A Practical Guide to
Newborn Bloodspot Screening
In Ireland
9th Edition May 2022

National Newborn Bloodspot Screening Laboratory
Children’s Health Ireland at Temple Street
Temple Street, Dublin D01 YC67
9th Edition – May 2022
Next review due May 2024

Contents
INTRODUCTION ............................................................................................................................... 6
Significant changes from 8th Edition ................................................................................................ 7
1

Contact Details and Laboratory Opening Times ...................................................................... 8

1.1

Telephone Numbers ....................................................................................................... 8

1.2

Laboratory Opening Times ............................................................................................. 82

Abbreviations .......................................................................................................................... 93

Conditions Screened .............................................................................................................. 10

3.1

Mode of Inheritance ...................................................................................................... 11

3 .2

Conditions included in the Irish Screening Programme ................................................ 12

4

3.2.1

Phenylketonuria (PKU) .......................................................................................... 12

3.2.2

Maple Syrup Urine Disease (MSUD) ...................................................................... 12

3.2.3

Homocystinuria (HCU) ........................................................................................... 13

3.2.4

Classical Galactosaemia (CGAL) ............................................................................. 14

3.2.5

Cystic Fibrosis (CF) ................................................................................................. 15

3.2.6

Congenital Hypothyroidism (CHT) ......................................................................... 17

3.2.7

Medium Chain Acyl CoA Dehydrogenase deficiency (MCADD) ............................. 18

3.2.8

Glutaric Aciduria Type 1 (GA1) .............................................................................. 19

3.2.9

Adenosine Deaminase deficient Severe Combined Immunodeficiency (ADA-SCID)
20

Responsibility for ensuring all babies are offered newborn bloodspot screening................ 21

4.1

Responsibility of the Health Service Executive............................................................. 23

4.2

Responsibility and role of the NNBSP Governance Group ........................................... 23

4.3

Responsibility of Community Healthcare Organisation (CHO) Child health leads ....... 23

4.4

Responsibility of Maternity Units and Maternity Hospitals ......................................... 23

4.5

Responsibility of the public health nursing service in the CHO.................................... 24

4.6

Responsibility of GP’s, self-employed community and private midwives.................... 24

4.7

Responsibility of parents/legal guardians .................................................................... 24

4.8

Responsibility of the national newborn bloodspot screening laboratory (NNBSL)...... 25

5Consent for Newborn Screening ........................................................................................... 25

5.1

General overview.......................................................................................................... 25

5.2

Consent and responsibility for obtaining consent........................................................ 25

5.3

Who can give consent .................................................................................................. 26

5.4

Other circumstances..................................................................................................... 28

5.5

Literacy difficulties........................................................................................................ 29

5.6

Right to opt-out of newborn screening ........................................................................ 29

5.7

Informing parent(s)/legal guardian(s) about the programme ..................................... 30

5.8

Retention of the Newborn Bloodspot Screening Card ................................................. 31

5.9

Data protection legislation, GDPR and newborn bloodspot screening ........................ 31

5.10

Return or disposal of newborn bloodspot screening cards .......................................... 32

6

Sample Collection .................................................................................................................. 33

6.1 Feeds at time of sample collection .......................................................................................... 33
6.1.1

Breast or formula fed babies ................................................................................. 33

6.1.2

Babies on total parenteral nutrition, intravenous fluids and soya feeds .............. 34

6.1.3

Feeds protocol for high risk (sibling) MCADD screens .......................................... 34

6.2

Babies receiving red blood cell (RBC) transfusions ...................................................... 35

6.3

Preterm and low birth weight babies ........................................................................... 35

6.4High Risk Screening for Metabolic Disorders ............................................................... 35
6.4.1

Family history of a metabolic disorder in extended family ................................... 38

6.4.2

Consanguinity and Endogamous populations ....................................................... 38

6.4.3

Maternal phenylketonuria (PKU) .......................................................................... 38

6.5High Risk Screening for Other Disorders ...................................................................... 38

6.6

Babies born to immigrant parents or refugees ............................................................ 39
6.6.1

Arriving before NBS has been performed in country of birth ............................... 39

6.6.2

Arriving after NBS screen has been performed in country of birth ...................... 39

6.7

Babies presenting with meconium ileus at birth .......................................................... 40

6.8

Infants over six weeks who missed CF screening due to programme issue................. 40

7

Recording of Information ...................................................................................................... 42

7.1

UPI, hospital codes and correct recording of LHOs ...................................................... 42

7.2

Recording of results of newborn blood spot screen .................................................... 44

7.3

Discharges from hospital before NBS ........................................................................... 44

7.4

7.3.1

Newborn bloodspot screening to be performed by PHN ...................................... 45

7.3.2

Newborn screening performed by GP or independent midwife ........................... 45
Transfer from maternity unit/hospital to another hospital ......................................... 46

8Procedure for taking the routine blood sample .................................................................... 47

8.1

Completion of the newborn bloodspot screening card ............................................... 47

8.2

Equipment required ..................................................................................................... 49

8.3

Technique for Sample Collection .................................................................................. 50

8.4

Sample collection from central line in sick babies ....................................................... 52

8.5

Packing and dispatching the newborn bloodspot screening cards .............................. 52

8.6

Quality of the bloodspot sample .................................................................................. 53

8.7

Why repeat blood samples may be requested............................................................. 54

8.8

Problems with card demographics incorrectly completed .......................................... 54

8.9

Bio-hazard samples ....................................................................................................... 54

8.10

Completion of newborn bloodspot screening card at time of discharge...................... 54

9Transport / drying boxes and pre-printed plastic envelopes ................................................ 55

9.1

Procedure for transporting samples............................................................................. 55

9.2

Responsibility of sender ............................................................................................... 56

9.3

Red weather alerts ....................................................................................................... 56

10

Procedure for reporting results ........................................................................................ 57

10.1

Setting up authorised users for eReports...................................................................... 57

10.2

Requests for repeat sampling and responsibility for checking eReports ...................... 57

11

Procedure for contacting parent(s)/legal guardian(s) with a screen positive result ....... 58

11.1

Follow up for suspected positive cases of PKU ............................................................. 58

11.2

Follow up for suspected positive cases of MSUD .......................................................... 59

11.3

Follow up for suspected positive cases of HCU ............................................................. 60

11.4

Follow up for suspected positive cases of Classical Galactosaemia .............................. 60

11.5

Follow up for suspected positive cases of MCADD ....................................................... 61

11.6

Follow up for suspected positive cases of GA1 ............................................................. 61

11.7

Follow up for suspected positive cases of Cystic Fibrosis ............................................. 62

11.8

Follow up for suspected positive cases of Congenital Hypothyroidism ........................ 62

11.9 Follow up for suspected positive cases of ADA-SCID ............................................................ 63
12

Appendices ....................................................................................................................... 63

Appendix No. 1

Incorrect Location Form ................................................................................ 64

Appendix No. 2

Opt Out Form................................................................................................. 65

Appendix No. 3

Scan of Newborn Screening card (front and back) ....................................... 66

Appendix No. 4

Copy result request form............................................................................... 67

Appendix No. 5

Specimen Gate eReports™ instructions ........................................................ 68

Appendix No. 6

Patient Detail Amendment form .................................................................. 70

Appendix No. 7

Metabolic follow-up sample request form ................................................... 71

Appendix No. 8

ADA SCID follow up sample request form .................................................... 72

Appendix No. 9

Sample Checklist ........................................................................................... 73

INTRODUCTION
The Newborn Screening Programme for phenylketonuria (PKU) was started in Ireland on
behalf of the Department of Health by Drs Seamus Cahalane and Doreen Murphy at theChildren’s University Hospital, Temple Street in February 1966; approximately four
years after the first newborns were screened in the States of Massachusetts and New York
(USA). The Irish programme was one of the first programmes in the world. Other
conditions have since been added. Some of these have been discontinued and others will
be added in the future. In December 2018 two additional metabolic disorders; MCADD
and GA1 were added to the screening programme. May 2022 marked the introduction of
screening for an immunological disorder, ADA-SCID.
The screening programme involves many healthcare professionals, each with their own
expertise and responsibilities. The programme is co-ordinated through the National
Newborn Bloodspot Screening Laboratory (NNBSL) at CHI Temple Street, on behalf of
the Health Service Executive (HSE) and the Directorate of Health and Wellbeing – Public
Health and Child Health. The screening laboratory is fully integrated into the Hospital’s
Department of Paediatric and Laboratory Medicine in Temple St., thus ensuring rapid
confirmatory testing of abnormal screens and the biochemical monitoring of thosediagnosed.
The worldwide screening community is small and we in Ireland are very cognisant of thedifferences between regional and national programmes and the Irish programme. The
Irish programme has been tailored for the local population and the incidence of disorders
occurring within the Irish population. The National Newborn Bloodspot Screening
Programme (NNBSP) will continue to develop as new information and treatments
become available for these rare disorders.
We would like to acknowledge the dedication and commitment that so many different
healthcare professionals put into this programme for the benefit of the few babies borneach year who are affected by one of these conditions.
We welcome any comments and feedback that individuals may have on this edition.
More information about the programme may be obtained at www.newbornscreening.ie
and www.hse.ie/go/newbornscreening

Significant changes from 8th Edition
Some of the more significant changes which have been incorporated into this edition arehighlighted below. However, users are advised to read the entire guide in order tofamiliarise themselves fully.
Section 3: Summary information on the additional disorder introduced to the programme:
Adenosine deaminase deficient severe combined immunodeficiency (ADA-SCID). Thisis a form of severe combined immunodeficiency (SCID) which causes a deficiency of the
enzyme adenosine deaminase (ADA). If not detected and treated early ADA-SCID can belife-threatening. Haematopoietic stem cell transplantation (HSCT) is the definitive
treatment and results in good overall outcome for the patient, gene therapy is an option
for those without a matched donor.
Section 5: Update on consent protocol to reflect updated HSE National Consent Policy
Section 6: Clarification on sub-optimal feeding issues
Section 6: ADA-SCID high risk screening guidelines

Important Messages:
Parent(s)/legal guardian(s) are entitled to and can be given a copy of their baby’s
results by their PHN.

N.B.: No screening test is 100% reliable
The purpose of newborn screening is to identify infants at risk that require moredefinitive testing. As with all screening programmes both false negatives and false
positives are possible.
Important information for samples due to be taken on Thursdays (all year round)To ensure samples reach the laboratory in a timely manner and to minimise a delay inreporting, can we ask that samples due to be taken on a Thursday, are collected earlyThursday morning if baby is 72 hours old, allow sample to dry fully, and post on
Thursday afternoon to arrive in our laboratory on Friday morning for analysis.

1 Contact Details and Laboratory Opening Times
1.1

Telephone Numbers
National Newborn Bloodspot Screening Laboratory (NNBSL)
Enquiries: 01 878 4277, 878 4610
Email:
info.newbornscreening@cuh.ie
Fax:
Website:01 878 4596
www.newbornscreening.ie

National Centre for Inherited Metabolic Disorders (NCIMD)
Temple St., Enquiries to 01 878 4317

1.2

Laboratory Opening Times
Monday to Friday
Analysis including Beutler tests and reporting of results

09.00 to 17.00

All samples received in the laboratory up to 12.00 on routine days will be analysed thatday, samples received after that will be analysed the next working day. The 12.00
deadline may change on Christmas Eve/ New Year, sample takers will be notified inadvance. Samples received after deadline and on a Friday or received over the weekend
are processed on the first run on the next working day.
Saturday Morning
09.00 to 12.00
Reporting of results and Beutler Assay
N.B. Beutler samples must be in the laboratory before 10.00am on Saturdays and Bank
holiday Monday, the test takes approx 2.5hrs and all maternity units are phoned withresults. Samples will not be reported electronically until the next working day.
To facilitate phoning of results please note contact number where Beutler results are to bephoned back to.
Christmas/ New Year: Changes of opening hours will be circulated in advance.

2 Abbreviations
ADA-SCID Adenosine deaminase-deficient severe combined immunodeficiency
ADOM/PHN Assistant Director of Midwifery/ Public Health Nursing
CHO
Community Healthcare Organisation
CHI
Children’s Health Ireland
CHT
Congenital Hypothyroidism
CF
Cystic Fibrosis
CFTR
Cystic Fibrosis Transmembrane Conductance Regulator
C Gal
Classical Galactosaemia
CLN
Clinical liaison nurse
DBS
Dried blood spot
DPHN
Department of Public Health Nursing
DOB
Date of Birth
DON/M
Director of Nursing/Midwifery
GA1
Glutaric Aciduria type 1
GCDH
Glutaryl-CoA dehydrogenase
GDPR
General Data Protection Regulation
GP
General Practitioner
HCRN
Health Care Record Number
HCU
Homocystinuria
HIPE
Hospital Inpatient Enquiry
HSE
Health Service Executive
IHI
Individual Health IdentifierIV
Intravenous (fluids)
KPI
Key Performance Indicators
IRT
Immunoreactive Trypsinogen
LHO
Local Health Office
MCADD
Medium chain Acyl CoA dehydrogenase deficiency
MSUD
Maple Syrup Urine Disease
NBS
Newborn Bloodspot Screening
NBSC
Newborn Bloodspot Screening Card
NCIMD
National Centre for Inherited Metabolic Disorders
NNBSL
National Newborn Bloodspot Screening Laboratory
NNBSP
National Newborn Bloodspot Screening Programme
NSAC
National Screening Advisory Committee
OLCHC
Our Lady’s Children’s Hospital, Crumlin
PHN
Public Health Nurse
PKU
Phenylketonuria
RBC
Red Blood Cell
SCBU
Special Care Baby Unit
SECM
Self-employed community midwives
TPN
Total Parenteral NutritionTS
Temple Street
TSH
Thyroid Stimulating Hormone
UPI
Unique parenteral identifier3 Conditions Screened
All conditions which form part of the Newborn Bloodspot Screening Programme, havebeen selected because they all have a relatively high incidence within the Irish populationand they fulfil, in part or in full, the criteria which have been set out internationally fornewborn screening. These include: the conditions screened are treatable;
 there is a test available which is easily applied to large population groups;
 there are few false positive and false negative results i.e. the test is reliable;
 the incidence of the conditions in the community is sufficiently high to warrant
screening; the cost of screening makes the process cost-effective.
For all of the conditions, early diagnosis and treatment significantly improves the clinicaloutcome. Some of the conditions, for example Phenylketonuria, Congenital
Hypothyroidism, Classical Galactosaemia, Maple Syrup Urine Disease, Medium Chain
Acyl CoA Dehydrogenase deficiency, Glutaric Aciduria Type 1 and ADA-SCID benefit
from the earliest detection possible. Unfortunately, as with all screening programmes, not
all individuals with a condition will be detected. This is particularly true for
Homocystinuria and for Cystic Fibrosis where milder variants of the condition may not
be detected.
N.B.: No screening test is 100% reliable
Table 1: Conditions included in the Irish Newborn Bloodspot Screening Programme
Datestarted

Irish
Incidence

1. Phenylketonuria (PKU)

1966

1:4,500

1:12,000

2. Homocystinuria (HCU)1971

1:69,400

1:120,000

3. Classical Galactosaemia (CGal)

1972

1:16,200

1:45,000

4. Maple Syrup Urine Disease (MSUD)

1972

1:155,200

1:225,000

5. Congenital Hypothyroidism (CHT)1979

1:2,300

1:3,500

6. Cystic Fibrosis (CF)2011

1:2,300

1:3,500

7. Glutaric Aciduria Type 1 (GA1)2018

1:54,000

1:100,000

8. Medium Chain Acyl CoA Dehydrogenase
deficiency (MCADD)

2018

1:66,000

1:14,600

2022

1:78,500

1:200,000*

Condition

9. Adenosine Deaminase-Deficient Severe

Combined Immunodeficiency

Worldwide
Incidence*https://www.orpha.net/consor/cgibin/OC_Exp.php?Lng=GB&Expert=277#:~:text=SCID%20due%20to%20ADA%20deficiency,mal
es%20and%20females%20are%20affected.

3.1 Mode of Inheritance
The majority of the conditions screened for involve a defect in a metabolic process orpathway and are inherited as ‘autosomal’ conditions and can occur with equal frequency
in both males and females.
Each step in a metabolic pathway is governed by an enzyme. An enzyme is a protein
produced by a set (two) of genes on a pair of chromosomes. Each parent transfers totheir off-spring one gene so that the off-spring has a set assembled from both parents. If
one of these genes is defective (mutated), the metabolic pathway continues but at a
reduced rate. These individuals, known as carriers, do not have symptoms of thecondition but carry the defective gene. For autosomal recessively inherited conditions,both parents must be carriers of a defective gene and each of their off-spring has a
one in four chance of having the condition and a one in two chance of being a carrier.

The clinical presentation and severity of the condition may vary between unrelatedfamilies. Different mutations may affect the same metabolic process differently; someindividuals may present with a severe form of the condition and others with a very mild
form.
Congenital hypothyroidism is slightly different in that for 90% of cases the condition justoccurs, for reasons which are not fully understood; it is twice as common in girls as inboys. However, for one in 10 babies (10%) the condition is inherited as an autosomal
recessive condition, as described above.

3 .2 Conditions included in the Irish Screening Programme
3.2.1 Phenylketonuria (PKU)
Screening case definition: to detect babies with Phenylketonuria (PKU). No distinction
is made between those with PKU, hyperphenylalaninaemia and Dihydropteridine
Reductase deficiency. Although it must be acknowledged that some babies with mild
hyperphenylalaninaemia may not be detected by newborn screening as the blood level ofthe amino acid phenylalanine may be below the action cut-off level when screened.
Phenylketonuria is an autosomal recessive condition involving the breakdown of theamino acid phenylalanine. Approximately one in every 4,500 babies born in Ireland has
PKU or a milder form called hyperphenylalaninaemia. When diagnosed within the
newborn period and started on treatment, these babies grow up healthy and well.
However, without treatment this condition may cause intellectual or physical disability.
In the majority of cases, the condition is caused by a lack of the enzyme phenylalaninehydroxylase, which normally converts phenylalanine, one of the building blocks inprotein, into tyrosine. In the absence of the enzyme, phenylalanine accumulates and thesehigh levels have a direct toxic effect on the brain.
Early treatment is very beneficial; it aims at giving a reduced intake of phenylalanine but
a normal intake of all the other amino acids. This diet has to be continued for life. The
screening test depends on detecting a high level of phenylalanine in the blood. If the test
is carried out before 72 hours after birth, there is a possibility that the level ofphenylalanine in blood may not be sufficiently elevated for the condition to be detected.
The treatment for PKU has been one of the major successes in medicine since it was first
introduced in the early 1950s. There is substantial evidence to show that the earlier thetreatment is started, the better the biochemical control throughout life and the better theoutcome.
3.2.2 Maple Syrup Urine Disease (MSUD)
Screening case definition: to detect babies with the more severe neonatal onset form of
Maple Syrup Urine Disease (MSUD). The programme may not detect those babies withthe milder variants such as late onset or intermittent MSUD.
Maple Syrup Urine Disease is a life threatening condition if it is not detected and treatedearly. It too is an autosomal recessive condition caused by a defect in the metabolism of
three amino acids, known as the branched chain amino acids because of their similar
biochemical structure. Approximately one in every 155, 200 babies born in Ireland may
have this condition or about one baby born every two to three years. The disorder is socalled because the urine may have an odour similar to that of maple syrup.
Screening was originally justified on the basis that chronic handicap and even premature
death had occurred in a number of families where this condition had gone undetected.

The branched chain amino acids accumulate in blood following the establishment offeeding during the first few days of life, and may cause brain damage.
A diet similar to that for PKU but with low levels of the branched-chain amino acids isstarted as soon as the diagnosis is made. Normal brain development and good healthresult from early treatment; life-long adherence to the diet is essential. Urgent medical
intervention may be required during illness, which may be precipitated by infection or
stress.
3.2.3 Homocystinuria (HCU)
Screening case definition: to detect babies with Classical Homocystinuria (HCU).
The programme may not detect those babies with the milder variants such as those withpyridoxine (vitamin B6) responsive HCU and babies with inadequate protein intake.
Homocystinuria results from the accumulation in blood of the amino acid methionine andone of its metabolic products homocysteine. Homocysteine accumulates due to a
deficiency of the enzyme cystathionine β-synthase. Homocysteine is toxic to the lining ofblood vessels and predisposes the individual to thrombus formation, blood clots and anumber of other complications including osteoporosis (thinning of the bones) anddislocation of the lens of the eye. Again the treatment is similar to that for PKU. For
those individuals who adhere to the diet, the risk of developing any of the complications
is greatly reduced. Approximately one in every 69,400 babies born in Ireland may havethe condition or one baby every year.
The screening programme detects high blood levels of methionine. This is one of themore difficult conditions to detect, as the blood methionine level may not be raised
initially. The methionine concentration is low in many baby foods, particularly in breast
milk. The screening programme may not detect approximately one in every five babies
born with this condition. There are a variety of reasons why this may occur. These
include: Breast fed babies as there may be an inadequate intake of methionine in the feed
to enable the blood methionine level to rise above the level for diagnosis.
 A milder vitamin B6 responsive form of the condition. These patients usually havemilder symptoms and disease progression is slower and they are unlikely to be
detected by newborn screening.
Consequently, if protein intake is deemed to be suboptimal, a further sample should betaken on or about day 10 of life for Homocystinuria screening. All babies or children who
present clinically in later life with signs and symptoms suggestive of Homocystinuria,
such as dislocation of lenses, osteoporosis or inappropriate tall stature should have thedisorder excluded formally by measuring plasma levels of methionine and total
homocysteine.

3.2.4 Classical Galactosaemia (CGAL)
Screening case definition: to detect babies with Classical Galactosaemia.
The programme tries to avoid diagnosing individuals with non-classical galactosaemia
such as the Duarte/Galactosaemia variant as they usually remain asymptomatic
throughout life. The NNBSP does not screen for Epimerase or Galactose Kinase
deficiency.
Classical Galactosaemia is an autosomal recessive condition caused by the deficiency ofthe enzyme galactose-1-phosphate uridyl transferase. This enzyme is important for the
breakdown of galactose, one of the two sugars that make up lactose in human and cow’s
milk. Approximately 1 in every 16,200 babies born in Ireland each year may have thiscondition. However, it is particularly common among babies born to Irish Traveller
parents in whom the incidence is approximately 1 in 450 births. Consequently, in the
non-traveller Irish community the incidence is about one in every 36,000 births.
If not detected and treated during infancy, the disorder may cause damage to the liver orthere may be an increased risk of infection, which may be life threatening. As a result of
the condition, galactose and its metabolite galactose-1-phosphate accumulate in blood.
Galactose-1-phosphate is extremely toxic. The baby may present with jaundice and there
may be a bleeding disorder with a tendency to bleed spontaneously. The affected baby
may also develop an E coli infection of the blood, septicaemia or present with cataracts intheir eyes. Early detection and treatment with a lactose or galactose-free diet will preventthe early clinical complications of the disorder; some of the longer term complications,such a dyspraxia, ataxia or reduced fertility in women, may still occur in older children
and adults despite dietary treatment.
Because the condition is more common in babies born to Irish Traveller parents and to
siblings of known cases, a special screening test, the Beutler test, is offered to all thesebabies at birth (preferably Day 1 of life). Parents/legal guardians are advised to keep baby
on a galactose free feed (Soya-based) until the result of the Beutler test is available. This
protects the baby should he/she have the condition. For those mothers wishing to breast
feed, they should discuss this with their midwife as they can express their milk until the
result of the Beutler test is available.
Clinicians should never depend upon the general population screening for the diagnosis
of Classical Galactosaemia, but should query this condition in any baby who presents
early with jaundice and other symptoms suggestive of Galactosaemia e.g. vomiting,
floppiness, hypoglycaemia, conjugated hyperbilirubinaemia or abnormal clotting of
unknown cause.

3.2.5 Cystic Fibrosis (CF)Screening case definition: to detect babies with Cystic Fibrosis (CF) who would havepresented clinically with significant respiratory symptoms or fat malabsorption. The
programme is not designed to detect individuals with minor respiratory symptoms orother symptoms, such as infertility in men due to congenital absence of the vas deferens.
Ireland has one of the highest incidences of CF in the World with approximately one inevery 2,300 babies being affected. CF is also an autosomal recessive condition with bothparents carrying an abnormal Cystic Fibrosis Transmembrane Conductance Regulator(CFTR) gene.
As a consequence of the condition, thick mucus secretions are produced by a number oforgans including the lungs and pancreas; it is this thick mucus secretion which causes the
problems. The thick secretions in the lungs may become infected, ultimately causing
damage to the lungs. If the pancreas is involved this may cause diabetes mellitus,
digestive problems and malabsorption of important vitamins. Consequently babies with
CF may present with failure to thrive and frequent chest infections.
Newborn blood spot screening means that babies with CF are identified earlier; they canbe treated with a high energy diet to improve weight gain and medicines andphysiotherapy to improve lung function. Although a child with CF may still become ill,
early treatment does improve their quality of life, significantly reducing length of stay inhospital. They can live healthier and longer lives. Specific treatment is now available fora significant number of persons with CF depending on the specific mutation affecting the
CFTR gene.
The screening programme measures the blood level of immunoreactive trypsinogen(IRT). IRT is normally excreted by the pancreas into the intestinal tract, but in individuals
with CF, it is regurgitated back into the blood due to the thick mucus secretions whichblock the pancreatic ducts. Levels of IRT may remain high in blood for about the first six
weeks of life. If the blood IRT level is high the sample will be referred for CFTR
mutational analysis. This DNA test screens for the presence of 38 possible mutations on
the original bloodspot collected.


If two CF mutations on the newborn screening sample are identified, then thebaby probably has CF and this will be confirmed by a sweat test which will beorganised and carried out by the baby’s local CF centre without delay.
If one mutation is identified then a sweat test will be performed to determine
whether the baby is a carrier of CF or has the condition. If the sweat test is
positive, further DNA analysis will be undertaken to identify the second mutation.

Figure 1: Algorithm for Newborn Screening for Cystic Fibrosis

The ‘sweat test’ used to confirm or out-rule CF, measures the chloride concentration insweat, and is usually performed before the fourth week of life in one of six designatedHSE paediatric CF centres, based on the baby’s address. The sweat test is considered the‘gold’ standard for confirming the diagnosis of CF. Not all babies with CF will be
detected by the newborn bloodspot screening programme. Milder variants of thecondition may not be detected; some of these individuals may have a very benign clinicalcourse which may not require treatment.
Note Newborn dried bloodspot IRT screen for CF is not suitable for babies/children
over six weeks of age.
 Babies with meconium ileus (MI) should be strongly suspected of having CF andfollowed up accordingly, including CF mutations at birth. These babies may havea normal CF screen (normal IRT). MI must be noted on the screening card.
 The Irish CF mutational genetic panel screens for 38 mutations chosen to reflect
the Irish population, therefore babies of non-Irish ethnic origin are at increased
risk of non-detection within the Irish programme, particularly if parents areconsanguineous.

3.2.6 Congenital Hypothyroidism (CHT)
Screening case definition: to detect babies with congenital hypothyroidism, with either
thyroid agenesis or dysgenesis or dyshormonogenesis, based on the results of aTechnetium-99m pertechnetate thyroid scan. The programme is not designed to detectminor aberrations of thyroid function in the newborn.
Unlike the other conditions, CHT is a congenital rather than an inherited condition, in the
majority of cases. This is an endocrine condition, which results from failure of the thyroid
gland to produce the hormone thyroxine. There are a number of different forms of thecondition. Some babies may have a very small thyroid gland or no gland at all whileothers may not be able to make thyroxine. It is important to identify the cause; this can bedone by performing a thyroid scan soon after the diagnosis has been made and usually
before treatment has been started. Approximately 1 in every 2,300 babies born in Ireland
may have the condition; early detection allows for early treatment and the prevention ofsymptoms.
The diagnosis is made by measuring blood thyroid stimulating hormone (TSH), highlevels of which are suggestive of the condition. However, TSH rises in blood
immediately after birth and then falls to normal by about the second day of life. This is
one of the reasons why the routine heel-prick sample should not be taken before 72 hours
after birth, otherwise a false-positive result for congenital hypothyroidism may occur.
The majority of babies with congenital hypothyroidism require thyroid hormone
replacement. Some children will be reviewed by their endocrinology team between two
and three years of age at which time a small number may be able to discontinue treatment
under medical supervision. Otherwise treatment is for life and dose of thyroxine adjusted.
Compared to some of the other conditions, the frequency of false positive results for CHT
is relatively high. Consequently the number of requests for repeat blood samples is alsohigh. Possible reasons include: A transiently raised TSH concentration, which returns to normal in time. Thesebabies may require a number of repeat samples to be collected.
 Hypothyroidism is more common in babies and children with Down Syndrome; asa result a disproportionate number of repeat samples may be requested from thesebabies as they may have a transiently elevated TSH level during the newborn
period before developing hypothyroidism later.
 Babies, who have had surgery before having the screening sample taken, may
have a transiently elevated TSH level. This may occur as some antiseptic skinpreparations contain iodine which may be absorbed through the skin and cause
transient hypothyroidism. This occurs more commonly in premature babies.

Note Preterm infants with hypothyroidism can have a delayed thyrotropin increase
most likely because of immaturity of the hypothalamic – pituitary thyroid axis;
these infants are at increased risk of being undetected in the screening process. A
repeat samples should be collected at 37 weeks gestational age.

3.2.7 Medium Chain Acyl CoA Dehydrogenase deficiency (MCADD)
Screening case definition: to detect babies with MCAD deficiency (MCADD).
Not all babies with MCADD will be detected by newborn screening, patients carryingc.199T>C mutation in combination with c.985A>G or another mutation have been shownto have significantly lower acylcarnitine markers compared to other genotypes and there
is a potential for false negative screening result. Also older infants with MCADD(greater than approximately one month of age) may have C8 levels below the screening
cut-off and there is a potential for false negative screening result. Babies with carnitine
depletion and very low concentration of free carnitine might not be detected by newborn
screening. It must be noted that rarely, a baby may present clinically before results of anewborn screening are available.
MCADD is an autosomal recessive inherited defect of fatty acid oxidation due to
deficiency of the enzyme medium-chain acyl-CoA dehydrogenase. This enzyme isrequired for the metabolism of medium-chain fatty acids and is necessary to enable thebody to use its own fat reserves to produce energy in periods of fasting or stress.
Symptoms are not apparent at birth and about one third of cases of MCADD remain
asymptomatic throughout life, however, symptoms can develop very quickly in affected
infants who are not feeding well. Complications typically arise during periods of stresscaused by an illness, fasting or vomiting, when the infant needs to break down stored fat
quickly.
Episodes of metabolic decompensation can be prevented through avoidance of fasting,and monitoring of the infant to determine ‘safe’ time periods between meals andfollowing a strict feeding schedule. MCADD mainly presents before the age of two years
with a mean age of thirteen months, although neonatal presentations have also beenreported.
Hypoglycaemia and a decompensated state develop which can result in serious life
threatening symptoms including seizures and brain damage. When diagnosed within the
newborn period and started on treatment, these babies grow up healthy and well.
However, without treatment this condition may cause intellectual or physical disability oreven death.

Note If a baby is on IV/Glucose or Dextrose a false negative screen may be reported for
MCADD. It is imperative that this is noted on the screening card, and a repeat
card taken when IV fluids discontinued.

3.2.8 Glutaric Aciduria Type 1 (GA1)
Screening case definition: to detect babies with GA1. The programme may not detect allbabies with GA1, particularly those who excrete a low concentration of glutaric acid (lowexcretors) and those with very low concentration of free carnitine.
Glutaric aciduria type 1 (GA1) is an autosomal recessive inherited condition caused by a
deficiency of the enzyme glutaryl-CoA dehydrogenase (GCDH). With this condition the
body is unable to break down certain proteins properly. It is an organic acid condition as
it can lead to harmful amounts of organic acids and toxins in the body. If left untreated it
can cause brain defects or even death, however if the condition is detected early in lifeand proper treatment begins children with GA1 can lead healthy lives.
The enzyme GCDH is involved in the decarboxylation of glutaryl-CoA, which is anintermediate in the breakdown of the amino acids lysine, hydroxylysine and tryptophan.
Defective catabolism causes the toxic accumulation of glutaric acid, 3-hydroxyglutaricacid, glutaconic acid and glutaryl carnitine.
Over 150 disease causing mutations have been identified; of these the R402W mutation is
the most prevalent among Caucasians. Most mutations, including the R402W mutation,
are associated with undetectable GCDH activity and excretion of high amounts ofglutaric acid. However, mutations that lead to varying levels of residual GCDH activity
and low excretion of glutaric acid have also been reported. Consequently, patients with
GA1 can be divided into two biochemically defined subgroups low or high excretors,
based on the levels of glutaric acid present in the urine.
About 70% of patients (including both low and high excretors) have an encephalopathic
crisis, which is most common at around nine months, with 90% by age two years. These
are usually precipitated about 1–3 days after onset of a non-specific intercurrent illness,gastrointestinal infection or pneumonia and lead to dystonia and dyskinesia as permanent
sequelae but with relative preservation of the intellect.

3.2.9Adenosine Deaminase deficient Severe Combined Immunodeficiency(ADA-SCID)
Screening case definition: To detect babies with ADA-SCID. Babies with the delayed orlate onset forms of ADA deficiency may also be detected. The programme does notscreen for other types of SCID.
ADA-SCID is a specific form of severe combined immunodeficiency (SCID) and is themost common cause of SCID in Ireland. It is an autosomal recessive condition whichcauses a deficiency of the enzyme adenosine deaminase (ADA). The lack of ADA
enzyme is caused by biallelic mutations on the ADA gene. Approximately one in every
78,500 babies born in Ireland may have this condition. However, it is more common
among babies born to Irish Traveller parents in whom the incidence is approximately 1 inevery 1,200 births.
If not detected and treated early ADA-SCID can be life-threatening. The ADA enzyme isimportant for the breakdown of adenosine and deoxyadenosine. If the enzyme isdeficient, adenosine and deoxyadenosine can accumulate and become toxic.
Lymphocytes are particularly sensitive to the resulting toxic effect of deoxyadenosine,causing a marked depletion of T, B, and NK cells leading to SCID. As a result patients
can present with frequent and severe infections such as pneumonia, often caused by anorganism (Pneumocystis jirovecii) that does not cause illness in healthy individuals.
ADA is active in other cells of the body, so patients with ADA-SCID can also have nonimmune symptoms. There can be an impact on nervous, auditory, skeletal, pulmonary,
hepatic cardiac and renal systems.
Early treatment with enzyme replacement therapy (PEG-ADA) can be used until
definitive treatment (haematopoietic stem cell transplantation (HSCT)) is available.
HSCT (with a matched donor), results in good overall outcome for the patient, genetherapy is an option for those without a matched donor. Long-term follow-up is importanteven for those who have been treated successfully, with careful monitoring ofdevelopmental, behavioural and psychological effects.

Note: Other conditions, if approved by the National Screening Advisory Committee(NSAC) and the department of Health may be added to the screening panel and sample
takers will be notified well in advance of any change in practice.

4 Responsibility for ensuring all babies are offered newborn
bloodspot screening
Newborn bloodspot screening is an integral part of the health service provided tonewborn babies. Screening involves the co-operation of many agencies involved insample collection, sample transport, sample analysis and recording of results to thereferral and management of those babies diagnosed with one of the conditions. It is acomplex process ensuring that all babies born in hospital or in the community are offered
screening and followed-up until the screening process has been completed.
Ref.: HSE Standard Operating Procedure for Maternity Hospitals/Units and Primary Care
Services delivering the National Newborn Bloodspot Screening Programme.
Figure 2: National Governance Structure for Child Health Screening and
Surveillance Programmes

Figure 3: National Newborn Bloodspot Screening Governance Structure

4.1

Responsibility of the Health Service Executive
The ultimate responsibility for ensuring that all babies are offered screening inaccordance with agreed protocols and procedures rests with the HSE and the AssistantNational Director of Health and Wellbeing – Public Health and Child Health, who chairs
the National Newborn Bloodspot Screening Programme (NNBSP) Governance Group.
The Director of the National Newborn Bloodspot Screening Laboratory (NNBSL) is
responsible for the day to day coordination and management of the programme.

4.2

Responsibility and role of the NNBSP Governance GroupThe NNBSP Governance Group is responsible for providing multidisciplinary advice tothe HSE regarding technical and operational aspects of the programme and to the
Director of Childhood Screening regarding strategic direction, policy and quality
standards, funding objectives, legislation reviews and documentation relating to theprogramme, such as referral guidelines, manuals for practitioners, guidelines for storage,
retention and use of residual bloodspots etc. The Governance Group is responsible forcoordinating a quality assurance programme in partnership with health professionals andparents and monitors and facilitates improvements in the quality of the screening
processes and their outcomes for parents and babies. The Governance Group is also
responsible for supporting the development of information and training resources forhealth professionals and parents.

4.3

Responsibility of Community Healthcare Organisation (CHO) Child healthleads
The CHO Child Health Leads are responsible for ensuring that all babies born andresiding in their CHO are offered screening and that structures for the timely checking
and recording of the test results are in place. The CHO Child Health Leads are also
responsible for reporting newborn screening uptake and coverage to the NNBSP
Governance Group.

4.4

Responsibility of Maternity Units and Maternity Hospitals
Directors of Nursing/Midwifery in maternity units/hospitals are responsible for ensuringthat all babies born in hospital are offered screening. If the test is not performed in thematernity unit/hospital before discharge, hospital staff are responsible for ensuring thatthe baby is screened either by returning to the maternity unit/hospital or in thecommunity, by informing Public Health Nurses (PHNs). The maternity unit/hospital
informs the PHN Nursing Service of the discharge and the requirement for newborn
bloodspot screening.
Biohazard samples: The maternity unit/hospital must inform the PHN Nursing service if
the newborn screening sample is to be flagged as biohazard due to maternal infection, thenature of the infection does not need to be disclosed. It is sufficient to enclose the sample‘fully dried’ in a biohazard bag, the outer envelope for posting should not be labelledbiohazard.

4.5

Responsibility of the public health nursing service in the CHO
Directors of Public Health Nursing (PHN) are responsible for ensuring that the screen iscarried out in their Local Health Area (LHO) following notification from the maternity
unit/hospital on babies residing in their designated area. The Directors of PHN are also
responsible for the timely recording of results in the newborn screening register including
details of those babies who require follow-up, repeat sample or further investigation.
Babies born in Northern Ireland but with an address in the Republic should have ascreening card taken and sent to the NNBSL, Temple St. Dublin.
N.B In the case where the maternity hospital/unit requests a repeat sample on a newborn
and the NNBSL have already reported a ‘Not suspected’ result on that baby, the requestfrom the maternity unit must be followed up. The NNBSL cannot override this request
for a repeat from the maternity hospital/unit staff.
N.B. Parents can request and are entitled to a copy of results from their PHN

4.6

Responsibility of GP’s, self-employed community and private midwives
General Practitioners (GP), self-employed community midwives (SECMs) and Private
Midwifery groups are responsible for performing the NNBSP screen in accordance withagreed HSE protocols and procedures and for dispatching the newborn bloodspot
screening card to the NNBSL as soon as possible after collection in accordance withpackaging transport regulations (see section 9). GPs rarely take heel prick samples andshould contact the NNBSL for advice; they should also ensure they have an ‘in date’newborn screening card if taking samples.
The dispatching of the sample is the responsibility of the sample taker and should not bedelegated to the parents.

4.7

Responsibility of parents/legal guardians
Parent(s)/legal guardian(s) are responsible for their baby and their participation in the
NNBSP. In the case of parent(s)/legal guardian(s) opting out of the NNBSP and having
been informed by healthcare practitioners of the potential consequences to their baby inso doing, the responsibility for any possible adverse consequences of their decision lies
with the parent(s)/legal guardian(s). They must be requested to signify their decision to
opt-out in writing by completing the Opt-out Form (see Appendix 2). A copy of thecompleted form must be retained by the parent(s)/legal guardian(s) and a copy forwarded
to the Directors of Midwifery/Nursing and Public Health Nursing, the NNBSL and thebaby’s GP. If parent(s)/legal guardian(s) change their mind in the future, it is their
responsibility to bring this ‘change of mind’ to the attention of the PHN or their GP.
If the parents refuse to complete the opt-out form, notice of this should be sent to the
NNBSL by email. See appendix 2

4.8

Responsibility of the national newborn bloodspot screening laboratory(NNBSL)
The NNBSL is responsible for managing the programme on a day to day basis within theparameters and standards laid down by the Director of Childhood Screening and the
NNBSP Governance Group. The NNBSL is responsible for overseeing the quality
management system and reporting activities of the screening programme and ensuringthat all screen positive cases are referred to the appropriate clinical care team withinagreed standards and procedures and that a definitive diagnosis is ultimately made.
The NNBSL is responsible for providing on-going training and education where possible
for all staff involved with the programme within agreed standards as required. The
NNBSL also liaises with the individual clinical care groups to ensure that appropriate
clinical audits are performed, thus optimising screening outcomes.

5 Consent for Newborn Screening
5.1

General overview
The Irish NNBSP screens for conditions that if not identified and treated promptly canhave devastating consequences for the infant such as disability and possibly premature
death. The newborn bloodspot screening or ‘heel-prick’ test should be offered to all
infants through their parent(s)/legal guardian(s). All infants who are born in Ireland, or
who enter the country (before the screen would have been performed in their country oforigin) if they are under one year of age, are eligible.
As per current legislation and the 31st Amendment to the Constitution, the NNBSP
Governance Group regards the best interest and welfare of the infant as the paramountconsideration but is cognisant of the 2001 Supreme Court case of North Western Health
Board v HW/CW. The 31st Amendment to the Constitution which involved the additionof Article 42A and governs the legal position around parental decision making has not yet
been definitely tested by the Irish Courts.
The HSE National Consent Policy is also available for reference by staff and has recently
been updated. Consent is also covered in the Nursing and Midwifery Board of Ireland
Code of Professional Conduct and Ethics (2021).

5.2

Consent and responsibility for obtaining consent
Parent(s)/legal guardian(s) must be given the appropriate verbal and written informationand sufficient time to make an informed decision. The HSE Parent Information Leaflets
are available and should be given to parents during the third trimester of pregnancy by
midwives and again when the newborn bloodspot screening sample is being taken.
Parent(s)/legal guardian(s) should also be given the top page of the newborn bloodspot
screening card which contains information about the NNBSP.

The sample taker is responsible for ensuring that appropriate signed consent is obtained
and informing the Parent(s)/legal guardian(s) that by signing the NBSC they are
confirming that: He/she received, read and understood the HSE Parent Guardian Information
Leaflet –“What you need to know about Newborn Bloodspot Screening – heel
prick”. There are translated versions of the HSE Parent Guardian Information
Leafletavailable
on
the
HSE
websitefordownload
https://www2.hse.ie/screening-and-vaccinations/heel-prick-screening/heel-prickscreening-what-it-is.html. Translators can be used if required.
 The details of the infant on the NBSC are correct.
 They consent to the NBS sample being taken.
 They agree to the storage of the NBSC as per current Department of Healthpolicy.
N.B. It is important to note that the National Newborn Bloodspot Screening Laboratory
has a duty of care to analyse all newborn bloodspot screening samples they receive
irrespective as to whether they are signed by a parent(s)/legal guardian(s) or not. It is the
responsibility of the sample taker to ensure that signed consent is obtained when taking
the sample.
5.3

Who can give consent
The HSE has published the revised National Consent Policy (2022) and Appendix 5 of
the National Consent policy provides clarity as to who are a child’s legal guardians.
The National Consent Policy (2022) notes that this is a complex legal position and therelevant provisions are set out in the Guardianship of Children Act 1964 as amended by
the Child and Family Relationships Act 2015.
The Parent who signs the NBSC must be a legal guardian. Please note: Where a child’s mother and father are married at the time of birth both are thelegal guardians and either can give consent to newborn bloodspot screening as per
Section 6 of the Guardianship of Infants Act 1964.
 If a child’s mother and father are not married, the birth mother is automaticallythe legal guardian of the infant and can only sign the NBSC. The unmarried
second parent may not be automatically the guardian of the infant, and may not be
in a position within the timeframe for the NBS to have legal responsibility to sign
the NBSC to provide consent.
 Since January 2016, the child’s father is an automatic legal guardian if he has
lived with the child’s mother for 12 consecutive months including at least 3
months with the mother and child following the infants birth. This may be
applicable for cases of newborn bloodspot screening where a child may be
screened up to the age of one year.



If the birth mother is unavailable to sign the consent, i.e. through illness or
hospital transfer, the unmarried second parent cannot sign the consent. In thesecases, the sample taker should make every effort to contact the birth mother to getverbal consent and to document this in the relevant clinical notes/child healthrecord. Written consent from the birth mother must be obtained at the earliest
opportunity and forwarded to the NNBSL.



If the birth mother is not contactable, for example due to severe illness, then the
HSE must act in the best interest of the infant which would be to take the newborn
bloodspot screening sample and inform the birth mother as soon as possible as tothe decision taken and to record that in the child health record. If appropriate, thisshould ideally be in discussion with the second parent or primary care giver of theinfant to ensure that they are aware of the need and benefit of newborn bloodspot
screening.



If the infant has been discharged home to the care of the second parent and thebirth mother is too unwell to be discharged, the maternity hospital/unit shouldplan on the infant’s discharge that the second parent should bring the infant backinto the hospital to obtain consent from the birth mother at the time of sampling.



RPHNs/RMs arranging a house call to perform the newborn bloodspot screening
must insist on the birth mother being present. Grandmothers or otherrelatives/friends cannot provide written consent.



If a Midwife is taking the newborn bloodspot screening sample in hospital and thebirth mother is not present on the ward, the midwife should return when the birthmother is present.

Every effort should be made to obtain consent at the time of sample collection;
this is especially relevant to cards taken in emergency situations and in the NICU.
As per screening protocol when there is a screen positive for Cystic Fibrosis
samples are referred to CHI Crumlin for CF genetic testing. Signed consent must
be provided to release these genetic results which may have an impact on thebaby’s family and possible future pregnancies. If a baby passed away and noconsent was obtained, it is very difficult to go back to parents for retrospective
consent

5.4

Other circumstances
Where an interim care order is in place only the parent(s)/legal guardian(s) can provide
consent.
If there is a full care order in place consent can be provided by the relevant health orsocial care provider. HSE National Consent Policy notes that it is good practice to seek
consent of parent/legal guardian but not mandatory.
Other circumstances which more than likely will not apply to newborn screening due tothe timing, although could be applicable for late screening up to the age of one year, but
are worth noting include: Adoption: Where a child has been jointly adopted, the adoptive parents are thechild’s legal guardians. However, adoption is unlikely to have been completed at
the time that newborn bloodspot screening is due to take place (72-120 hours after
birth) and the birth mother would be the legal guardian at that time.










Surrogacy: Where a child is born through surrogacy in Ireland, the surrogate
mother is the legal guardian at birth, until the commissioning mother/father are
appointed as legal guardians. The surrogate mother, as birth mother, has legal
responsibility for the newborn until the infant is legally adopted.
For infants born to surrogates in Ireland it is permissible under the National
Consent Policy for consent to be obtained from the surrogate mother by the
sample taker by telephone/electronic means (Part 2 Section 4.2.2) if deemednecessary.
If practicable, the surrogate mother may give consent prior to the infant being
discharged but is must be made clear to the surrogate mother that she isconsenting to the heel prick screening for the infant. The discussion that has takenplace and the consent agreement must be documented in the healthcare record.
If the commissioning father’s sperm was used in the surrogacy procedure, he may
apply to the Court for a declaration of parentage; once granted, this would
immediately entitle him to apply to the Court for guardianship. The
commissioning mother, or a commissioning father whose sperm was not used in
the procedure, may apply to the Court for legal guardianship one they/she has
fulfilled the relevant legal requirements.
Surrogacy in another jurisdiction: Under current Irish legislation, the surrogate
mother, as birth mother, has legal responsibility for the newborn until the infant islegally adopted. This may mean that the birth mother is resident in anotherjurisdiction. There is currently no provision in Irish legislation allowing consent
to be provided by the parents who bring the infant back into Ireland after birthabroad to a surrogate mother until legal adoption has taken place. This Procedure
will be updated when there has been an update in the relevant Irish legislation
around surrogacy abroad.



5.5

In respect of same sex couples, the infant’s biological parent is a legal guardian.
The biological parent’s partner or spouse may apply to the Court to become alegal guardian in accordance with the requirements below.
Where a same-sex couple has a child through donor assisted human reproduction(not including surrogacy) and has complied with the provisions of Part 2 of theChildren and Family Relationships Act 2015, (i.e. they have used a recognised
fertility clinic and have signed all the relevant consents and declarations) the
spouse, civil partner or cohabitant of the parent will be the legal parent of thechild. In this situation, the spouse or civil partner of the biological parent willautomatically be a legal guardian. A cohabitant will be a legal guardian if they
fulfil the residence requirement (i.e. have lived with the infant’s mother for 12
consecutive months including at least 3 months with the mother and the infant
following the infants birth).

Literacy difficulties
If the parent(s)/legal guardian(s) has literacy difficulties they can be asked to make amark on the newborn bloodspot screening card to indicate that they have been fully
informed about the benefits and risks of newborn bloodspot screening.

5.6

Right to opt-out of newborn screening
Newborn bloodspot screening should take place as it is in the infant’s best interest.
Parent(s)/legal guardian(s) do have the right to opt-out from the newborn bloodspot
screening programme on behalf of their infant. If married, either parent can decide to opt
out. If unmarried, only the mother can decide to opt out. However, they should be clearlycounselled and fully informed about acting in the best interest of their infant’s health. Ifparent(s)/legal guardian(s) do decide to opt-out, it is essential that they are fully informedof the potential clinical consequences to their infant. Parent(s)/legal guardian(s) must sign
the National Newborn Bloodspot Screening Programme Opt-Out form (available on
www.newbornscreening.ie). Appendix 2. If the parents refuse to complete the opt-out
form notice of this should be sent to the NNBSL.
Parent(s)/legal guardian(s) must be informed that they may change their mind in the
future but that it is their responsibility to make their change of mind known to either the
PHN or their GP. They must also be aware, that depending on the age of the infant at thispoint, it may alter how and for what conditions can be screened for.


If parent(s)/legal guardian(s), in this case married parents, both disagree as to theprovision of consent for newborn bloodspot screening the HSE National Consent
Policy provides guidance on this in Section 3.2.2 (National Consent Policy2022). All reasonable efforts should be made to recognise and respect their views
as regard what is in the best interest of the child including when these views
differ from those of the service provider. Where a second-opinion is sought by
the parent(s)/legal guardian(s), this should be facilitated as far as possible by theservice provided.







5.7

Where parent(s) or legal guardian(s) refuse to consent to an intervention which
the healthcare worker reasonably believes to be in the best interests of the child,every effort should be made to reach a consensus position as regards the bestinterest of the child. This may require involving one or more other healthcare
workers, including the provision of independent second opinions, as well as
mediation or other external supports (if these are available).
If, having taken these steps, it is not possible for the healthcare workers and theparent(s) or legal guardian(s) to reach an agreement as to what is in the bestinterests of the child, it may be necessary to seek legal advice as to whether anapplication to the Court is required.
In such a situation, the parent (s) or legal guardian(s) should be informed of theirright to seek legal representation and to be heard in relation to the application.
The healthcare worker has an obligation to act in the best interests of the child at
all times. This means that if in the opinion of the healthcare worker theintervention is immediately required and there is no time to make an application
to Court without exposing the child to an immediate risk of death or serious
injury, the intervention should proceed notwithstanding the parental objection. In
such a situation, the healthcare worker should record the basis for his or her
evaluation that immediate intervention is required and the steps which they havetaken on this basis.

Informing parent(s)/legal guardian(s) about the programme
Parent(s)/legal guardian(s) should be told:









About the nature of the conditions included in the screening programme.
If these conditions are detected soon after birth, treatment can be started early andsignificant handicap and possibly premature death can be prevented. Treatment
varies depending on the disorder identified, for example dietary modifications or
medication such as for the treatment of congenital hypothyroidism and for theprevention of CF related complications. Gene therapy and HSCT are the current
treatments for ADA-SCID. Parents will be educated and supported by therespective clinical teams.
That a further sample may be required, either to check the first result or becauseof an equivocal or borderline result or a technical problem in the first analysis, aninsufficient quantity of blood collected, a contaminated sample or assay
interference.
A further sample may be requested if the identity of the baby is unclear; this canoccur if the screening card is not filled in accurately – this is particularly
important for twins, triplets etc. It is important to record on the card the rank of
the baby, twin 2 of 2, recorded as 2/2.
That parent(s)/legal guardian(s) of babies with a positive result will be contacted
directly, usually by the maternity unit/hospital; clear instructions on how toproceed will be given.

Depending on the condition suspected, parent(s)/legal guardian(s) may be asked to bring
their baby immediately to hospital, usually to CHI at Temple Street or CHI at Crumlin
where the baby may be admitted for a period of time while treatment is commenced.
If the baby is suspected of having CF, they will be contacted by a CF Nurse Specialist
from one of the six HSE designated paediatric CF Centres and asked to bring their babyin the following day for further tests.
5.8

Retention of the Newborn Bloodspot Screening Card
After screening, the NBS card is stored at a secure site by Temple St. on behalf of the
HSE as part of the baby’s health record, after which time it will be disposed of as per
HSE/ Department of Health policy.
After screening the sample may be used to: Check the results of the screening test or to perform other investigations
recommended by the child’s doctor, for which parent(s)/legal guardian(s) will be
asked to give their signed consent.
 In the event of sudden unexpected death, consent may be obtained from the State
Coroner.
 For quality assurance purposes and to help improve the screening programme asapproved by the HSE. In such circumstances, all samples will be completely
anonymised and it will not be possible to trace any result back to an individual
baby.

5.9

Data protection legislation, GDPR and newborn bloodspot screening
Under an agreement between the NNBSP Governance Group and CHI at Temple Street
the NNBSL manages the programme on behalf of the Governance Group on a day to day
basis. CHI at Temple St acts as the Data Processors under the terms of the Data
protection legislation on behalf of the NNBSP Governance Group, retaining baby
demographic details and a copy of the results as part of the baby’s record.
The information required for newborn bloodspot screening is that collected and recordedon the NBS card, this information on baby’s feeds, transfusion status, date and time ofbirth and sample collection etc, plus identifiers is required for result interpretation andreporting.
Under GDPR regulations, in order for the NNBSL to be compliant with the data
minimisation principle of GDPR there is a minimal amount of personal data that we
require when screening card details are being completed and if further clarification oramendments required to what was originally recorded. The NNBSL cannot now accept
birth notification or discharge summaries as details on parents(s) are included.

A Patient Detail Amendment form has been devised by the NNBSL for sample takers tocomplete if the need to amend any information on a newborn, refer to appendix 6, thecurrent version of this form is available from info.newbornscreening@cuh.ie
Access to the NNBSL ICT system is password protected and restricted to scientific andsecretarial staff working in the NNBSL and to a third party who supplied and maintains
the software. Maternity units/hospitals and local health offices have limited password
protected access to data and results, only on babies born in their maternity unit/hospital orresiding within their local health office through an electronic report handling system(eReports™).
5.10 Return or disposal of newborn bloodspot screening cards
Parent(s)/legal guardian(s) may request that the newborn screening card be returned or
disposed of. It is the NNBSL policy to retain all samples for a minimum of six months
before any return or disposal. Such requests must be made in writing to the; Risk
Management department, CHI at Temple Street, Dublin D01 YC67. Requestors will be
asked to provide proof of identity, e.g. a copy of their passport or driving license and a
recent utility bill and a copy of the baby’s birth certificate.
Consent References









Guardianship of Infants Act 1964
Child Care Act 1991
Thirty-first amendment of the Constitution (Children) Act 2012 – enacted April 2015
Children and Family Relationships Act 2015
North Western Health Board v HW/CW (2001) 3 IR 622
http://www.bailii.org/ie/cases/IESC/2001/90.html
Paper of Emily Egan SC delivered to the Citizens Assembly 4th March 2017 (page 15(https://www.citizensassembly.ie/en/Meetings/Emily-Egan-s-Paper.pdf)
HSE(2022) National Consent Policy https://www.hse.ie/eng/about/who/qid/other-qualityimprovement-programmes/consent/national-consent-policy.html
Nursing and Midwifery Board of Ireland (2021). Code of Professional Conduct and Ethics.
Available at https://www.nmbi.ie/NMBI/media/NMBI/Code-of-Professional-Conduct-andEthics.pdf?ext=.pdf

6 Sample Collection
Samples on all newborns must be collected by heel-prick irrespective of feed status,
prematurity or clinical condition between 72 hours and 120 hours after birth, air dried
and dispatched without delay to the NNBS Laboratory.
If the sample is collected outside this window (72-120 hours) it may adversely affectthe result as follows:
Collected before 72 hours – it is essential that all babies should receive an adequate
protein and lactose intake before the sample is taken, otherwise a false negative result
may occur, for this reason, the sample is taken after 72 hours.
The TSH level (test used to screen for congenital hypothyroidism) may be transiently
elevated immediately after birth; as a result, if the sample is taken too early (before 72hrs.), some babies may have a false positive screen for congenital hypothyroidism.
If the sample is collected before 72 hours a repeat card will be requested.
Collected after 120 hours – because the programme includes screening for ClassicalGalactosaemia, MCADD and MSUD, it is essential that samples are not collected too
long after birth, otherwise some babies may present clinically before the results of thescreening test are available.
Exceptions to 72-120 hours window are pre-transfusion samples and high risk
screens (see section 6.4)
For babies at high risk of Classical Galactosaemia (Irish Travellers or a family
history of Classical Galactosaemia) take a sample on day 1 for ‘BEUTLER’ test,in addition to a routine card taken at 72-120 hours.
Take a pre-transfusion sample on any baby that is due to have a red blood cell(RBC) transfusion especially premature/low birth weight / sick babies and presurgery, then take the routine card at 72-120 hrs.
If there is a family history of a metabolic condition seek advice from the NCIMD
on these occasions (phone 01 878 4317), and always take a routine card at 72-120
hours.

6.1 Feeds at time of sample collection
6.1.1 Breast or formula fed babies
The NBS should be taken not earlier than 72 hours and not later than 120 hours after
the infant’s birth. Infants should be established on full lactose and protein containing
feeds for at least 24 hours before the newborn bloodspot sample is taken to minimise therisk of a false negative result. However babies at high risk of Classical Galactosaemia
should not be given lactose/galactose containing feeds until the result of the Beutler test
is available, please see sections 6.1.2 and 6.4.
Professional clinical judgement should be used in decision making around establishedfeeding prior to taking the newborn bloodspot sample:For breastfed infants in the community, the Breastfeeding Observation
Assessment Tool (BOAT) should be used to guide assessment of feeding andsupport professional decision making.
 For breastfed infants the maternity hospital/unit local individual feeding records(i.e. LATCH score) are available to guide assessment of feeding and support
professional decision making.
 For infants on expressed breast milk/formula, the sample taker can review the
infant’s intake over the previous 24 hours to aid assessment of feeding andsupport professional decision making.
Using professional clinical judgement, if an infant has not been feeding well, then: The sample taker should arrange to revisit the next day if it is still within the 72120 hour window.
 Take the normal sample within the 72-120 hour window but an additional sample
should be taken on or around Day 10.
Please contact the NNBSL (01 892 1804) for advice on feeds if unsure.
6.1.2 Babies on total parenteral nutrition, intravenous fluids and soya feeds
This should be clearly noted on the screening card. These babies may not be on any
galactose/lactose or adequate protein containing feed and the screen could give a false
negative result.
 TPN and soya feeds do not contain galactose, as a result babies on TPN or soya
may produce a false negative result for Classical Galactosaemia (CGal). A Beutler
test can be performed on these babies to out-rule CGal provided baby has not had
a RBC transfusion. An RBC transfusion will invalidate the Beutler test.
 Babies on IV fluids may not have adequate protein and galactose intake and may
result in a false negative for MCADD, amino acid disorders as well as CGal.
 CGal cannot be out ruled on transfused babies who have not had a pre-transfusion
Beutler, until the baby is established on full lactose/galactose containing feeds fora period of time to indicate a possible raised galactose level.
 In the event where a baby remains on TPN/IV fluids and a Beutler could not be
performed due to RBC transfusion, the baby should be monitored for clinical andlaboratory signs (prolonged clotting times and raised liver enzymes) of
Galactosaemia when being established on lactose/galactose containing feeds.
 If a baby is on IV/Glucose or dextrose a false negative screen may be reported for
MCADD. It is imperative that IV fluid intake is noted on the screening card, and a
repeat card to be collected when IV fluids discontinued.
6.1.3 Feeds protocol for high risk (sibling) MCADD screens
It is essential to ensure that the baby maintains a good milk intake until results areavailable. If baby is well it should be bottle fed every 3 hours or if breast fed every 2-3
hours during day time and every 3 hours at night (at least 10 minutes on the breast).
Exclusively breast fed babies are particularly at risk in the first few days when the supplyof breast milk is poor; top up feeds of expressed breast or formula milk may be necessary
until a good milk supply is established. Seek advice from the metabolic clinical team in
Temple St. (01 8784317).

If oral feeds are not tolerated, or if the baby is unwell in any way, urgent referral should
be made to a Metabolic Paediatrician for review and consideration of IV glucose.
N.B.: If a baby is on IV/Glucose or dextrose a false negative screen may be reported for
MCADD. It is imperative that this is noted on the screening card, and a repeat card collected
when IV fluids discontinued.

6.2

Babies receiving red blood cell (RBC) transfusions


If a RBC transfusion is scheduled to be given before the routine 72-120 hr. screen
is taken, a pre-transfusion sample should be collected to perform a Beutler test to
out-rule CGal.
 A newborn screening sample must also be collected between 72-120 hrs. after
birth regardless if the child has had a further transfusion. Do not delay this 72-120
hr. sample due to transfusions.
 For any further cards collected on these transfused babies, please allow 72 hrs. topass post any further transfusions before taking any more cards, unlessspecifically requested by the laboratory or clinical team.
 If the baby received an intrauterine transfusion, this should be clearly noted on
the screening card, as this will invalidate the result of the Beutler test and could
give a false negative screen result.
NB. A RBC transfusion invalidates the Beutler test for Classical Galactosaemia as the
enzyme measured is in the red cells.
6.3

Preterm and low birth weight babiesAll premature babies should have a pre-transfusion sample taken if a RBC
transfusion is planned or likely, to out-rule Classical Galactosaemia. These babies
may not be established on full feeds for some time (may be on TPN and/or IV
fluids) and a false negative may be reported. A routine sample should be taken
between 72-120 hours after birth.
 Further samples should be collected at regular intervals e.g. as a guideline 1 week,
2 weeks, 4 weeks and term-corrected gestational age. On some occasions
additional samples may be requested by the NNBSL or Clinical team.
 Preterm infants with hypothyroidism can have a delayed thyrotropin increase
most likely because of immaturity of the hypothalamic – pituitary thyroid axis;
these infants are at increased risk of being undetected in the screening process if
repeat samples are not collected at term corrected gestational age.
Please call the laboratory for advice if unsure (01 892 1804).
6.4High Risk Screening for Metabolic Disorders
Guidelines for siblings or children of known cases of metabolic disorders
In all cases note family history of disorder on screening card e.g. sibling, parent or otherextended family member. Please see next page for details.

High Risk Screening Guidelines for siblings or children of known cases*
Contact Telephone Details :NCIMD National Centre for Inherited Metabolic Disorders, for clinical advice: 01 8784317
Metabolic laboratory CHI at Temple St., for sample requirement advice: 01 8784458/ 5557/ 4724
NNBSL CHI at Temple St. for sampling advice : 01 8921804*For GAL, PKU, MSUD, HCU, MCADD and GA1 follow-up. Refer to appendix 7

Condition

Sample to be taken

When to take - timeafter birth

PKU

Lithium heparin liquid sample (2 mls)

72-120 hours

Routine NBS card
72-120 hours
If the 72 hrs. following birth is due to fall on a Saturday, then werecommend that the liquid sample is taken and sent to the
Metabolic laboratory in Temple St on the Friday morning andlaboratory phoned in advance, in order to avoid parental anxiety
over the weekend
NBS Card
Day 10HCU

Lithium heparin liquid sample (2 mls) for Methionine and 72-120 hours
Total Homocysteine, separate within 15 mins and freeze
immediately (contact metabolic laboratory for details 01
8784724)
Routine NBS card

72-120 hours

Lithium heparin liquid sample (2 mls) for Methionine and Day 10
Total Homocysteine, separate within 15 mins and freeze
immediately (contact metabolic laboratory for details 01
8784724)
Lithium heparin liquid sample (2 mls), separate promptly & Day 1 after 2nd
refrigerate/ freeze within 2 hours
feed, then daily
Informuntil established
Metabolicon full feeds
clinical team if Urine or blood for ketones
Daily
FHx of MSUD
prior to delivery Routine NBS card
72-120 hours
MSUD

NBS card at Day 10 or Lithium heparin liquid sample, Day 10
separate promptly & refrigerate/freeze within 2 hours

Condition

Sample to be taken

Classical
Galactosaemia

NBS card for Beutler test.
Day 1 Beutler
Advise lactose/galactose free feeds (e.g. soya feeds) only,
until results of Beutler test available. Cord blood sample is notsuitable, record if baby has had a red cell transfusion or
intrauterine transfusion as this will invalidate the Beutler test.

Routine NBS card

MCADD
InformMetabolicclinical team if
FHx of
MCADD prior
to delivery

When to take - timeafter birth72-120 hours

It is extremely important that babies at risk of MCADD are 24-48 hours
tested at the earliest opportunity. Pregnancy should be
discussed with the metabolic clinical team NCIMD for carefulmanagement at birth to minimise risk of decompensation.
Management at birth may depend on presentation of previous
sibling.
Send DBS Acylcarnitine on metabolic screening card or NBS
card if not available. Write ‘Family History of MCADD’,indicate if baby on IV fluids, glucose/ dextrose
N.B. It is essential that the baby maintains a good milk
intake until results are available, see section 11.5.
Urine Organic acid - 5 mls fresh sample (frozen immediately 24-48 hours
at -20°C) with no preservative
Routine NBS card

72-120 hours

DBS Acylcarnitine on metabolic screening card
or NBS card if not available

Day 10DBS Acylcarnitine on metabolic screening card or NBS card 24-48 hours
if not available
InformWrite ‘Family History of GA1’
Metabolic
Urine Organic acid - 5 mls fresh sample ( frozen immediately
clinical team if at -20°C) with no preservativeFHx of GA1 Routine NBS cardprior to delivery
72 – 120 hours
GA1

DBS Acylcarnitine on metabolic screening card or NBS card
In all cases note family history of disorder on screening card

Day 106.4.1 Family history of a metabolic disorder in extended family
If there is a history of a metabolic disorder within the extended family other than asibling, this should be clearly stated on the screening card to include the name of thedisorder, in such circumstances please contact the NNBSL or NCIMD Temple Street for
advice.
6.4.2 Consanguinity and Endogamous populations
Twenty percent of the world's population practice consanguinity. This is a traditional
practice in the Middle East, Pakistan, Bangladesh and North Africa. Consanguineous
marriages/unions and couples who come from the same endogamous (small close)
community (e.g. Irish Travellers and Roma) have an increased risk of having a childwith a rare medical condition (specifically autosomal recessive disorders). There arecertain autosomal recessive disorders that occur more commonly in different countries or
endogamous populations. The Department of Clinical Genetics in CHI at Crumlin cangive advice on these disorders, the likely risk and genetic tests to consider in high risk
groups.
6.4.3

Maternal phenylketonuria (PKU)

Phenylalanine is actively transported across the placenta; as a result the blood level in the
foetus is about twice that of the mother. Therefore, women who themselves have PKU,
should plan conception so that their condition is under optimal control at the time ofconception. Regular and frequent monitoring of blood levels of phenylalanine andtyrosine are required throughout pregnancy in order to safe-guard the well-being of theirfoetus. Following the birth of the baby a liquid sample should be taken from the baby at
the same time as the newborn screening sample (72-120 hrs.) and a repeat screening
sample on day 10 of life.
6.5

High Risk Screening for Other Disorders
Cystic Fibrosis, Congenital Hypothyroidism and Adenosine Deaminase Deficient Severe
Combined Immunodeficiency
Cystic Fibrosis
For a child born to a parent with CF, where no prior CF genetic testing has been carriedout for the parents or the pregnancy, a blood sample from the baby and both parents
should be sent (with parent(s)/legal guardian(s) consent), to the Department of Clinical
Genetics in Children’s Health Ireland, Crumlin.
For a sibling of a known CF case, an EDTA blood sample should be sent directly by thematernity unit/hospital (if parent(s)/legal guardian(s) request/consent), to the Departmentof Clinical Genetics in CHI at Crumlin, clearly stating the name and DOB of the affected
sibling. A routine NBS card must still be taken at 72-120 hours.

Congenital Hypothyroidism
Thyroid Function Tests (TFTs) liquid sample should be taken at Day 3 and analysed
locally. Sample takers should consult local laboratory for sampling guidelines; lithium
heparin or serum. A routine NBS card must still be taken at 72-120 hours
Adenosine deaminase deficient severe combined immunodeficiency
All parents of infants diagnosed with confirmed ADA-SCID are referred for genetic
counselling after the diagnosis. In the event of future pregnancies, once the Immunology
team is informed, information on relevant screening at birth is shared with the mother’sobstetric team and the relevant neonatal/paediatric team.
To screen newborn siblings of a known ADA-SCID case, take 2mls of blood in EDTA
(ambient temperature, do not freeze) for flow cytometery and ADA enzyme analysis atbirth. This should be sent immediately to the Immunology Laboratory, Lab Med
Department, St James' Hospital, James' Street, Dublin 8, D08 NHY1.
The department of immunology and infectious diseases in CHI Crumlin should be
informed once the infant is delivered and results discussed with the PaediatricImmunologist once available. A routine NBS card must still be taken at 72-120 hours.
6.6

Babies born to immigrant parents or refugees
6.6.1 Arriving before NBS has been performed in country of birth
All babies and infants of immigrant parent(s)/legal guardians, up to one year of age, whoarrive in Ireland before any newborn screening test has been performed, should bescreened for all the conditions on the Irish panel (excluding CF if baby over six weeks ofage). Screening for CF by measuring blood IRT is not reliable for any infants over six
weeks of age. See section 6.8
6.6.2 Arriving after NBS screen has been performed in country of birth
The sample taker should be aware that many countries including Northern Ireland’s
newborn screening programme do not include screening for Classical Galactosaemia or
ADA-SCID. If there is clinical concern of Classical Galactosaemia, then the Beutler test
should be requested on a dried bloodspot. The full screening panel (excluding CF if baby
over six weeks of age) can be performed on babies under one year of age.
Decision to screen is a local clinical decision, dependent on family history and country oforigin of parents. Often a venous sample is taken and spotted onto the card as it may not
be possible to take a heel prick sample, it is imperative that this sample is whole bloodand has not been collected in a tube with any preservative (such as EDTA, lithium
heparin etc.).
If there is no documented evidence in a child’s medical records that screening was
performed please contact the NNBSL who may have a record and can advise.

6.7

Babies presenting with meconium ileus at birth
Meconium ileus is a common complication in babies with CF, occurring in about 18% of
all CF babies born in Ireland. Not all these infants present with a raised blood IRT (i.e. a
positive CF screen) from the NBS screen. Therefore, CF should be considered in allbabies who present with meconium ileus within the first days of life. An ETDA sample
should be collected and sent directly by the maternity unit/hospital to the Department ofMedical Genetics, CHI at Crumlin for CF mutation analysis, giving full clinicalinformation.
The routine NBS sample should be taken at 72- 120 hours to screen for the otherconditions. Meconium ileus should be noted on card.

6.8

Infants over six weeks who missed CF screening due to programme issue
Children who have missed the 72-120 hours window for newborn bloodspot screening forlogistical reasons can have their screen completed without delay when issues identified.
Immunoreactive trypsinogen (IRT) the screen for cystic fibrosis (CF) is not suitable if theinfant is over six weeks of age. This applies to premature infants as well as term infants.
Beyond six weeks of age the IRT value is not interpretable and a bloodspot sample isinvalid for the purpose of CF screening.
Therefore, for children greater than six weeks of age who were missed or there was a
problem with the sample, or the testing, such that no result for CF NBS is available, asweat test should be performed to out rule CF.
The sweat test should be performed in one of the six specialist CF centres involved in
accepting children for assessment as per the CF NBS programme. The following steps
should be undertaken;
1. The individual aware of or concerned that, a child has not been screened for CF as
part of the CF NBS programme should inform the National Newborn Bloodspot
Screening laboratory (NNBSL) in CHI at Temple St, Dublin.
2. The NNBSL should collect the relevant details of the infant involved, and thedetails of why screening was missed, and then contact the specialist CF centre
nearest the baby’s geographic catchment area to request a sweat test.
3. Contact with the specialist CF Centre should use the existing lines ofcommunication for the CF NBS programme; i.e. a telephone call to the CF
clinical nurse specialist (CNS) followed by written details. This will be carriedout by the NNBS laboratory.
4. The CF CNS will organise a sweat test and review by a CF Consultant as per theusual procedure for the CF NBS programme.
5. The specialist CF centre will provide the results to the parents/legal guardians and
NNBSL as soon as they are available.

6. The NNBSL will inform the individual who highlighted the case that the infant
has been assessed and will inform the maternity unit and the Director of Public
Health Nursing in that area.
The procedure as described above does not apply to infants who had newborn bloodspot
screening performed in another country which did not include CF NBS, and then moved
to Ireland at a later date. These children should not be screened for CF, but should have asweat test performed only if clinically indicated, such as if they develop clinical features,or have a strong family history of CF.
If a sweat test cannot be performed genetic analysis to be offered following parental
consent.

7 Recording of Information
7.1

UPI, hospital codes and correct recording of LHOs
Correct use of UPI: Until the HSE’s Individual Health Identifier (IHI) is introduced
nationally, the unique perinatal identifier (UPI), issued by the maternity units/hospitals
must be used to track each baby through the NBS process. The UPI consists of the three
digit hospital inpatient inquiry (HIPE) code of the maternity unit/hospital of birth (seeTable 2.) followed by the Healthcare Record Number (HCRN) of the baby. Babies born
either at home or in a maternity hospital outside Ireland will be issued with a UPI by the
Director of Public Health Nursing in the area in which the birth is registered following
notification of the birth.
A baby only has one UPI and this must be used on all screening samples sent to thelaboratory to track the baby through the screening process. If a baby is transferred toanother hospital the HCRN of the transfer hospital must also be included in theappropriate section of the screening card, see below for an image of the screening card.
The onus is on the birth hospital transferring the baby to ensure that the baby’s UPI isincluded on all referral/transfer correspondence. If the UPI is not provided, the receiving
hospital must contact the birth hospital to obtain the UPI. They should not generate theirown UPI.

Accuracy in recording of Local Health Office (LHO)
All results are issued via eReports to the Local Health Office that is recorded on the card.
If an incorrect LHO is recorded the result will be sent to the incorrect area.
This can lead to delays in follow up of babies who may need a repeat sample taken andalso is problematic for Liaison PHNs who are tracking results of babies from their LHO
area.
Examples of some errors- Community Healthcare Organisation (CHO) recorded incorrectly instead of LHO,
e.g. CHO Area 5 recorded which covers four LHOs Carlow/Kilkenny, Waterford,
Wexford and South Tipperary, this can be confused with CCD5 in Dublin.
-

Address not filled in correctly to help identify area e.g. Adamstown recorded asaddress but no county noted.

-

Baby’s address recorded as “Apt 4, Dublin Road” with no further detail provided.
A full address with LHO is required.

-

There are four LHO areas in Cork: North Lee, South Lee, North Cork and West
Cork but parts of Mitchelstown, Co. Cork are in Limerick. There are otherexamples of addresses on county borders that are in a neighbouring LHO.

Eircode: the Eircode should be recorded in the appropriate box. This will in time belinked to the Local Health Office (LHO) to verify that the LHO on the sample is correct.
Table 2 HIPE Code Numbers for 19 Maternity Units/Hospitals
HIPE
Code
201

Maternity Hospital / Unit

Maternity Hospital / Unit

Midland Regional Hospital Portlaoise

HIPE
Code
724

202

Midland Regional Hospital Mullingar

726

Kerry University Hospital, Tralee

301

University Maternity Hospital Limerick

800

University Hospital Galway

402

Cavan General Hospital, Cavan

802

Mayo University Hospital

500

Letterkenny University Hospital

919

Portiuncula Hospital, Ballinasloe

501

Sligo University Hospital

922

600

Waterford University Hospital

930

Our Lady of Lourdes Hospital,
Drogheda
Coombe Women’s Hospital, Dublin

601

St. Luke’s General Hospital Kilkenny

931

605

Wexford General Hospital

932

607

South Tipperary General Hospital

Cork University Maternity Hospital

National Maternity Hospital,
Holles St, Dublin
Rotunda Hospital, Dublin

7.2

Recording of results of newborn blood spot screen
The following steps must be adhered to, to ensure that adequate records are maintained in
the hospital of birth in order to identify any baby who has not been screened before
discharge:a) A person should be nominated by the hospital to take responsibility forchecking records;b) Details of each baby should be recorded in a single register;c) The register must indicate whether or not the test was performed and if there isfollow-up required;d) When the results of the test are returned from the NNBSL, the entry should beticked in a different colour pen (if a manual procedure is used) or entered into
the electronic register – therefore, any case where there is no report received
from the NNBSL is noticeable at a glance and can be followed up;e) The person who checks the register to identify possible omissions should initialthe entries to indicate that he/she has undertaken the exercise.
Parents can request and are entitled to a copy of results from their PHN

7.3

Discharges from hospital before NBS
The nurse/midwife discharging a baby from hospital before the screen has been carriedout must ensure that the mother understands the importance of the screen and when thescreen should be done.
If it is not appropriate to carry out the screen before discharge from hospital, thenurse/midwife should ensure that the baby is screened either: by returning to the hospital or in the community. The nurse/midwife should notify the DPHN thatthe baby has been discharged.
The DPHN in the LHO in which the parent(s)/legal guardian(s) live is responsible
for ensuring that babies, discharged from hospital prior to having the screen
performed, have the screen carried out.
Weekend sampling varies across the country as not all areas provide a weekend PHN
service and babies may have to return to the hospital for the sample to be taken.

7.3.1 Newborn bloodspot screening to be performed by PHN
If the screen is to be performed by a PHN, the following procedures should be followed:(a) The ward manager should ensure that the appropriate DPHN has been
notified that the screen is to be carried out. The Director should be provided
with the full details of the baby, including the UPI. They should also be
informed if either the baby or mother is being investigated for an infectious
disease.
(b) The Director of Public Health Nursing should: Keep a register of requests from hospitals;
 Request the appropriate PHN to perform the screen and to send thesample by registered post (and obtain a receipt of postage) to the
NNBSL, CHI at Temple St. Dublin D01 YC67.
 Notify the maternity unit/hospital where the birth took place that thescreen has been carried out.
The NNBSL send a copy of all results electronically to both to the maternity
unit/hospital and to the LHOs. For this reason, it is essential to ensure the LHO iscorrect.
If results are received back to an LHO that a baby does not reside in, an 'incorrect
location form', can be completed and location changed, forms are available on thewebsite or see appendix 1. The report will then be resent to correct area.
7.3.2 Newborn screening performed by GP or independent midwife
If the screen is to be performed by a GP or an independent midwife, the following
procedures should be followed:(a) The DPHN must contact the GP or the independent midwife to ensure that thescreen will be performed and sample sent by courier/registered post (retain
proof of postage) to the NNBS Laboratory. It is the responsibility of the
GP/independent midwife to arrange the transport of the sample; this should
NOT be delegated to the parents.
(b) The NNBSL will send a copy of results to the maternity unit/hospital, theDPHN and to the GP / independent midwife if noted on the NBS sample.
(c) The GP/ midwife must contact the DPHN in cases of non-attendance by theparent(s)/legal guardian(s).
In the situation where a family have moved out of the area before the screen was
performed, the DPHN must be informed of the circumstances as early as possible so thatalternative arrangements may be made.
NB. It is not normal practice for GPs to take NBS samples and they do not hold asupply of cards. GPs should contact the laboratory for advice if performing
newborn blood spot screening.

7.4

Transfer from maternity unit/hospital to another hospital
The nurse/midwife responsible for the transfer of a baby from a maternity unit/hospital toa tertiary referral paediatric unit MUST inform the receiving unit of the status of the NBS
and give them the baby’s UPI.
The paediatric unit must have written procedures for:









Performing the screen between 72-120 hrs. after birth
Documenting that the sample has been collected
Have a valid, in date card to collect sample on
Be aware of necessity for signed consent
Be informed about taking pre-transfusion samples
Sending the sample to the NNBSL
Recording the results in the baby’s medical records
Informing the maternity unit/hospital of the results of the screen and any request
for repeat sampling or follow-up action

Transfer Hospitals: If a sample is taken in a transfer hospital, and this information isrecorded on the screening card, the transfer hospital also receives a copy of the result. If
a baby was transferred to another hospital after a sample is collected, the hospital where
the sample was taken has responsibility to inform the transfer hospital re repeat sample.
Babies admitted to SCBU: Responsibility to ensure initial or repeat samples are takenlies with hospital of birth. Each maternity hospital has two logins for eReports, as do
community care and it is the responsibility of those checking results to inform SCBU if
initial or repeat screen required, as SCBU will not have access to electronic reports.

8 Procedure for taking the routine blood sample
The blood sample should be taken between 72 hours and 120 hours after birth
8.1

Completion of the newborn bloodspot screening card
Ensure that the NBS card has been completed in full and that all the information iscorrect and legible, including the name of the baby. Particular care should be taken to
distinguish twins, triplets etc. The NBS card must be signed by a parent(s)/legal
guardian(s) before the sample is collected to show evidence of consent.
Changes to data collected on screening cards: In September 2020 changes were madeto data collected on screening cards as a result of specific feedback from Public Health
Nurses, Midwives and the NNBS Laboratory in Temple Street. Existing screening cards
in stock can still be used provided the expiry date has not passed.
The changes and rationale are outlined in the table below:
Change1. Contact email address for
the National Newborn
Bloodspot Screening
Laboratory has been added
to the contact details.

Rationale/Comment
For ease of contact with the Newborn Bloodspot
Screening Laboratory.

2. Birth weight now needs tobe recorded to 3 decimal
places, where available.
3. Additional type of feed/fluid
has been added – Glu/Dex =Glucose/Dextrose

Birth weight recorded to 3 decimal places, if available, isrequired to ensure optimal performance and on-going
quality assurance of laboratory methods.
If a baby is on Glucose/Dextrose IV fluids when the
bloodspot sample is taken, this could give a false negative
result for Medium Chain Acyl CoA Dehydrogenase
Deficiency (MCADD). Therefore it is very important thatthe laboratory is made aware of babies on
Glucose/Dextrose fluids.
4. Mothers Surname has theOn occasion the surname of the parent providing consent
addition of ‘IF DIFFERENT can differ from the baby’s surname. The mother’s
FROM BABY’S”
surname needs to be queried to ensure consent is provided
by the appropriate person.
5. Location sample taken is
now either‘Community/Home’ or‘Hospital’.

‘Early Transfer Home’ has been removed as there werevery few cases of this.
‘Community/Home’ refers to any sample taken outside theMaternity Hospital/Unit setting; i.e. for samples taken at
home, a clinic or local health centre.

6. The ‘hospital ward’ fieldhas been changed to ‘Iftransfer state hospital’.

This is to capture cases where a baby has been transferred
to another hospital and the initial or repeat sample may betaken at that hospital. This is not the birth hospital.

7. Parent’s ethnicity.

Ethnicity is highly relevant with respect to newborn
bloodspot screening, as different ethnic groups will havedifferent prevalence of the eight conditions that are
currently screened for in Ireland. Ethnicity data is required
to ensure equity of the programme and inform programme
reviews.
Sample takers are requested to record a code on thescreening card. The list of ethnicity codes are included on
the back of each screening card and are consistent with thecodes used by the Central Statistics Office (CSO) whencarrying out the national census.
1 = White Irish
2 = White Irish Traveller
3 = Any other White background
4 = Black or Black Irish – African
5 = Black or Black Irish – any other Black background
6 = Asian or Asian Irish – Chinese
7 = Asian or Asian Irish – any other Asian background
8 = Other, including mixed background – specify.
It is noted that space is at a premium on the screening card
so if the ethnicity code is 8 - Other please try to record theethnicity on the screening card in the space provided.

Further details around ethnicity are detailed below



Ethnic Equality Monitoring

According to the HSE’s National Office for Social Inclusion a person’s ethnic group or
cultural background, country of birth, religion and language spoken can have an effect on
their health. Collecting this information from all who use the health service will help toensure that the health services provided are right for everyone.
This is particularly important for newborn bloodspot screening where the aim is to detectbabies that are at high risk of having a serious inherited condition. There is very little
knowledge of the prevalence of these conditions in Ireland amongst our increasingly
multi-cultural society.
Collecting the ethnicity of parents of babies screened will enable the screening
programme to determine the birth prevalence of these inherited conditions in various
ethnic groups and is a first step to understanding the short and long term disease
management needs faced by affected communities, especially ethnic groups that may be
more affected by particular conditions.

Resources available for staff on Ethnic Equality Monitoring

The HSE National Office for Social Inclusion has developed a range of resources tosupport putting ethnic equality monitoring in place in the Irish health service.

8.2-

An online training module called First Steps in Ethnic Equality Monitoring whichis available to all HSE staff on HSELand. This training is aimed at:o Hospital and community healthcare staff involved in collecting personal
data from service users
o Directors and managers of healthcare services
o Data analysis personnelo Health and/or social care researcherso Staff of community or voluntary sector organisations-

A public information leaflet and poster have been developed which explains why
the health service requires information about a person’s ethnic group; religion;
country of birth and language – examples are included in this appendix and allthese resources are available at:https://www.hse.ie/eng/about/who/primarycare/socialinclusion/interculturalhealth/ethnic-equality-monitoring/

Equipment required Sterile lancet (metered tip no more than 2.5 mm in depth) Latex free gloves
 Gauze Newborn bloodspot screening card, card must be in date, check expiry
 Envelope for dispatch to lab, water resistant and tear-proof (Tyvek or equivalentenvelope)

8.3

Technique for Sample Collectiona) Ask the parents/legal guardians to keep the baby’s feet warm prior to
sampling, by applying two sets of socks or placing a set of socks beneaththe babygro.
b) Read the instructions printed on the back of the NBS card.
c) Explain to the parent(s)/legal guardian(s) the reason for the screen and its
importance to the baby’s well-being.
d) Obtain signed consent (See Section. 5).
e) Tear off the top information sheet and the <Parent Copy> from the NBS
card and give it to the parent(s)/legal guardian(s), along with the Parent
Information leaflet, retain the <Nurse Copy> for filing in the child record.
f) Ensure <Laboratory Copy> remains attached to the card.
g) Assemble the equipment and put on gloves. Do NOT touch bloodspot ringson the card with gloves before, during or after the sample is taken. Ensure
there is no contact with Vaseline or other creams.
Latex interferes with Beutler test and may cause a false positive result.
Latex free gloves are to be used when carrying out the NBS.
h) Preferably take the sample from the baby while the Parent/legal Guardiancuddles the baby on their knee or on their shoulder; this not only assists you
but also comforts the baby. It also allows the Parent/legal Guardian theopportunity to ask questions about the screen.
i) Ensure that the heel is warm. Do not use active heating such as a hair dryer.
j) Place a paper towel on the lap of the individual holding the baby.
k) Ensure that the heel is visibly clean and warm. The skin may be gently
rubbed for 1-2 minutes to increase blood supply if deemed necessary. Neveruse any external warming source (e.g. hairdryer, warm water). This
introduces a risk of thermal burns and/or scalds.
l) Routine cleansing of the heel is not required. However, if the heel is visibly
dirty or soiled it can be cleaned with gauze soaked in cool sterile water.
Ensure that the heel is completely dry before taking the sample. Do not use
alcohol or baby wipes as they may interfere with sample results or cause
serum rings. Allow the heel to air dry completely.
m) Encircle the heel with finger(s) and thumb and squeeze gently until the skinlooks taut and suffused with blood.
n) Press the lancet firmly against the side of the ball of the heel and trigger thesterile lancet.

o) Hold the foot downwards and gently massage heel to encourage blood flow.
p) Wipe away the first drop of blood and allow another large drop to form.
(The first drop may be a diluted blood drop). Touch the circles marked on
the NBS card gently to the hanging drop of blood so that the blood soaks
through from the back of the NBS card to the front: blood drops must soak through from the back to the front of the card,
filling all circles completely; check that the blood has soaked completely through the circle on thefront as well as the rear of the card; do not press/squeeze the bloodspot to ‘force’ it through the NBS card as
this can compress the blood cells and may require repeat.
The Sample Taker will ensure sufficient blood is taken to meet therequirements to completely fill the four bloodspots circles on the card.
q) Wipe away excess blood with gauze. Press clean gauze firmly onto thewound until bleeding stops.
N.B. It is not recommended that a plaster is used as this may be a choking
hazard if swallowed.
r) Ensure that the NBS card is air-dried before putting it into the envelope. Do
not use excessive heating as this may invalidate screen. Failure to fully dry
the bloodspot before placing it in the envelope may result in serum rings,
invalidating the sample and thus requiring a repeat sample to be taken.
s) If a repeat sample is required for one test only, then two well-saturated
bloodspots are sufficient, ensure sample is saturated through from back tofront.
t) Parents/legal Guardians should be informed of the reason for a repeat
sample if repeat requested.
u) The blood spots collected do not need to be the outside spots; they can be
any of the four spots outlined on the card.
See figure 4 for a visual example of both a suitable sample, and unsuitable samples.

N.B.: Do not use any active heating mechanism such as warm water or ahair dryer to warm baby’s heel prior to undertaking newborn bloodspot
screening as there is a risk of thermal burns from such practice.

8.4

Sample collection from central line in sick babies
On occasion the blood sample may be collected from a central line. Ensure that sufficient
blood is discarded prior to placing drops of blood on the card. Failure to do this may
result in a dilute sample and give false negative results.

8.5

Packing and dispatching the newborn bloodspot screening cardsa) Send the NBS card by registered post or by courier to the NNBSL using theyellow fluorescent address labels, to reach the laboratory as soon as possible
after collection. Do NOT store or batch the completed NBS cards.
b) If more than one NBS card is placed in an envelope, they should be placed
at 180O to each other so that blood does not touch blood.
c) The sender MUST indicate how many NBS cards have been placed in eachenvelope and provide a separate list of the names of the babies and UPIs
whose specimens have been included in each envelope.
d) Keep a record of all samples sent in each envelope; a sample checklist isavailable for downloading from the newbornscreening.ie website.
e) Dispose of lancets as per local guidelines; never enclose the lancet in theenvelope with the NBS card. Please read Section. 9 on the transport ofsamples.

8.6

Quality of the bloodspot sample
Please ensure that there is an adequate amount of blood on the NBS CARD thatcompletely fills each circle. An inadequate amount of blood or a poor quality dried
bloodspot will require the procedure to be repeated causing potential trauma to the baby,
anxiety to the parent(s)/legal guardian(s) and inconvenience to the sample taker and may
result in delay in making a diagnosis.
Figure 4: Quality of suitable and unsuitable dried bloodspots

Quality of Dried Bloodspot

Possible Causes/Comments
Insufficient blood collected

Insufficient sample

Blood should be soaked through from back to front to provide sufficient
sample for analysis

Sample sent to laboratory before completely dry
Wet samples can give a false result and pose a health and safety risk to staff
Sample received wet

Applying layers of blood to card
Sample over saturated/layered

Sample appears contaminated

Applying blood to both sides of card

Squeezing area surrounding puncture site
Allowing card to come in contact with gloved hands or substances such as
milk, hand lotion etc.
Blood spot sample being compressed, causing cells to separate resulting ina diluted sample in the centre of spot

Sample shows serum rings

Good quality blood sample with enoughblood should a test need to be repeated

Allowing card to come in contact with liquids e.g. hand lotion, water,
milk.
Drying specimen incorrectly, or dispatching to laboratory when still wet
Sufficient amount of blood to soak through to completely fill all
circlesN.B.: 3.2 mm punches are taken from the card, all testing calculations are
based on a completely filled punch, this is why a fully saturated spot isessential

8.7

Why repeat blood samples may be requested
1. Insufficient blood on card for all or some of the screens to be performed.
2. Unsatisfactory sample quality – compressed/diluted sample, serum rings orcontaminated
3. Abnormal, borderline or equivocal test result.
4. Baby too young when blood sample was collected, sample collected before
72 hrs. after birth.
5. Blood on the card not dried properly before being put into a plastic coatedTyvek® envelope, thus causing serum rings or a diluted sample.
6. There is a query about the identification of the baby or babies if multiple
births.
7. The sample was taken on an expired card.
8. The card was delayed, greater than 14 days getting to the NNBSL and is too
old for analysis which can result in a false negative.
9. The bloodspot portion of the NBS card and demographic portion were reattached but NBS card barcodes do not match up.
10. The name on the bloodspot portion does not match that on the demographic
portion of the card; the identity of the baby may need clarification or arepeat sample.
11. Sample is unsuitable for analysis if taken within 72hrs of a RBC
transfusion.
N.B. It is the responsibility of the sample taker to tell the parents thecorrect reason why the repeat sample is required.

8.8

Problems with card demographics incorrectly completed
Unlabelled or inadequately labelled specimens cannot be accepted for analysis.

8.9 Bio-hazard samples
Newborns, whose mothers are known or suspected of being infected with an infectious
disease e.g. Covid19, HIV or Hepatitis B, MUST have the screen performed in the 72120 hr. window.
The word ‘Biohazard’ to be noted on the card, but nature of biohazard should not be
noted as it is not relevant to screens being performed.
The sample should be placed in a biohazard bag (or ‘Biohazard’ noted on bag/envelope)
once completely air dry. The outer envelope does not require the UN3373 sticker, and‘Biohazard’ does not need to be noted on the outer envelope.
All samples received ‘wet’ pose a health and safety risk to staff and may give a
false result, due to possible sample contamination or separation, please allow cards
to fully air-dry.
8.10 Completion of newborn bloodspot screening card at time of discharge
It is the practice of some maternity units/hospitals to give the NBS card to theparent(s)/legal guardian(s) either completed or blank at the time of discharge from
hospital. It is the responsibility of the sample taker to check that ALL the details arecorrect, including the date and time of collection. In addition, the name of the baby, bothsurname and first name may have changed since discharge and these corrections MUST
also be made. The responsibility for above lies with sample taker.

9 Transport / drying boxes and pre-printed plastic envelopes
The NNBSL has designed drying/transport boxes in conjunction with Mega-Pak Ltd, tofacilitate the transport of samples from the baby’s home to the PHN’s car in a safemanner. Once the bloodspot has dried, the sample should be removed from the box andpackaged according to the regulations. These boxes can contain two cards and arereusable. However, if they become contaminated with blood they should be disposed ofeither by incineration or through the accepted procedure for disposal of hazardous waste.
These boxes can be ordered directly from Mega-Pak Ltd – the minimum order is 150
boxes, flat packed in batches of 50.
Mega-Pak Ltd (Irish Office)16 Highfield Green
Swords, Co. Dublin
Tel: +353 (0) 1 840 2063
Fax: +353 (0) 1 840 2063
e-mail: megapakireland@eircom.net
Website:www.mega-pak.com
Figure(s) 5: Transport/Drying Box

9.1

Procedure for transporting samples
The sender of samples by registered post or by courier is responsible for ensuring that the
packaging and transportation of the sample complies with current transport regulations
regarding Health and Safety as laid down in the European Directive (ADR 2015)
Packaging Regulations P650. Dried bloodspots must be packaged appropriately. NNBSL

recommends that once the blood has dried, the sample should be inserted into a water
resistant, tear proof Tyvek® envelope or equivalent. The yellow fluorescent address label
should be fixed to the outer envelope.
Pre-printed registered envelopes
Pre-printed plastic envelopes may be purchased directly from An Post by e-mailing
customer care at An Post.
Please send an email for the envelopes to customer care, stating the amount of envelopes
required and quoting a HSE purchase order number.
A Pro Forma invoice, with the HSE purchase order number as reference, will then be
returned to enable payment by EFT. Once the EFT payment has reached An Post’s bankaccount the Philatelic Section will despatch the order.
9.2

Responsibility of senderIf more than one screening card is put in an envelope, they should be placed at 180o toeach other (i.e. the bloodspots should not overlap and therefore not touch). The sendershould state in writing how many cards are in each envelope and include a list of thenames of the babies; a sample checklist is available to download fromwww.newbornscreening.ie (see appendix 9).
Screening cards, appropriately packaged, should be sent daily and not batched. It is the
responsibility of the sender to dispatch the sample as soon as possible after collection,either by registered post or by courier. It is not appropriate to put the package into thepost knowing that there may be a delay in it arriving at the NNBSL due to either a postal
dispute (local or national) or over the Christmas period when the post is delayed.
Alternative arrangements should be made by maternity units/ hospitals and CHO/LHOs
to ensure samples are despatched to NNBSL without delay. Parents should never be
asked to post or deliver samples to the NNBSL. This is the responsibility of the sample
taker.
Important information for samples due to be taken on Thursdays (all year round)To ensure samples reach our laboratory in a timely manner and to minimise a delay inreporting, can we ask that samples due to be taken on a Thursday, are collected earlyThursday morning if baby is 72 hours old, allow sample to dry fully, and post on
Thursday afternoon to arrive in our laboratory on Friday morning for analysis.

9.3

Red weather alerts
In the event of a red weather alert due to adverse weather conditions, the sample taker in
conjunction with the ADOM / ADPHN must assess the risk of travel of either the PHN or
the parent and baby against the risk of delayed screening. Further advice can be soughtfrom the laboratory on such occasions.

10 Procedure for reporting results
Parent(s)/legal guardian(s) are entitled to and can be given a copy of baby’s resultsby their PHN.
All Newborn Screening reports are transmitted electronically via eReporting™ to The maternity unit/hospital of birth To the baby’s LHO
 And to the referral or tertiary hospital if baby has been transferred and thisis noted on the card
Therefore, it is essential that the correct LHO is recorded on the sample, and theparent(s)/legal guardian(s) residence Eircode.
eReporting™ is a secure data protected means of transmitting newborn screening reports.
No paper copies of reports are now issued by the NNBSL. eReporting is password
protected, only those with access to eReports can view results. It allows designated staff
in the respective maternity unit/hospital and LHOs to review the reports in pdf format.
The reports are available to view for 60 days from the date of issuing. They are thenarchived in the NNBSL.
10.1 Setting up authorised users for eReports
Each maternity unit/hospital and LHO nominates two authorised users; each will require
access to the internet. Staff from the NNBSL will provide them with a User Name andUser ID. They will also be provided with the internet link in order to access eReports.
Use of eReporting Authorised users can verify that a NBS sample has been received by the
NNBSL.
 Results are available as soon as they have been authorised by laboratory
staff, usually within 2 days of receipt of the sample.
 As requests for repeat samples are sent electronically, these repeat
samples can be taken sooner.
 A search facility can be used to find or link results; this includes baby’s
or mother’s surname, baby’s UPI and DOB or range of dates within theprevious 60 days.
 Individual baby newborn bloodspot reports can be printed locally andthen filed in the healthcare record and/or a copy given to theparent(s)/legal guardian(s).
10.2 Requests for repeat sampling and responsibility for checking eReports
Authorised users must review eReports daily and notify colleagues if a repeat sample has
been requested. The reason for requesting a repeat sample will be indicated on theindividual report.
If results are sent to a LHO that a baby does not reside in, an 'incorrect location form' canbe completed and the location changed; forms are available on the website or see
appendix 1. The report will then be resent to the correct LHO.

11 Procedure for contacting parent(s)/legal guardian(s) with ascreen positive result
Parent(s)/legal guardian(s) of a baby with a suspected positive screen are contacted
directly by telephone by the maternity unit/hospital. The procedure varies slightly
depending on the condition suspected. The NNBSP Governance Group has set out Key
Performance Indicators to ensure that babies detected with a condition are diagnosed andestablished on treatment within a specific time interval. The general procedure forcontacting parent(s)/legal guardian(s) is set out below with more specific details
depending on the condition.
Procedure of contacting parent(s)/legal guardian(s) with screen positive results









The Clinical Liaison Officer (or, depending on the condition the Director) in the
NNBSL contacts a designated liaison nurse or paediatric registrar in the maternity
unit/hospital by telephone – the following information is given:
The baby’s name, UPI, DOB and address
The disorder suspected and the result of the screening test
The designated liaison nurse or registrar in the maternity unit/hospital will be
asked to locate the baby and parent(s)/legal guardian(s) and explain to them;- Why the baby has to be referred to hospital.
- What disorder is suspected.
-Why a further card or blood sample is required, or thyroid scan if CHT
suspected.
Arrange for the baby to be brought directly to CHI at Temple Street, CHI at
Crumlin or to the local Paediatric Unit as requested by the NNBSL or the CHI at
Crumlin Immunology team (in the case of ADA-SCID).
Parent(s)/legal guardian(s) should be advised that their baby might be kept in
hospital for a few days, depending on the result of the repeat investigation.
Therefore, they should bring change of clothes for the baby and themselves.
The designated liaison nurse or registrar may contact the Director of the NNBSLor deputy through the CHI at Temple St switch board if further information isrequired.

At all times the designated liaison nurse or registrar must not instil any degree ofanxiety when communicating with the parent(s)/legal guardian(s) but must impart
the information in a calm and professional manner, being fully informed of all thefacts.
11.1 Follow up for suspected positive cases of PKU
The Clinical Liaison Officer in the NNBSL will book a bed for admission to
CHI at Temple Street and liaise with the on-call metabolic team. The designated liaison
nurse in the maternity unit/hospital will be contacted and asked to:

Arrange for the baby to attend CHI at Temple Street Hospital under thecare of the on-call Metabolic Paediatrician;Give the contact number of the NNBSL to the parent(s)/legal
guardian(s), and invite them to make contact for more information, if
they wish to do so.

Babies with PKU are given a trial of the drug Kuvan, to test for responsiveness. Thisrequires admission to Temple St, ideally before day 10 of life. During this time the baby
will also be started on lifelong dietary treatment and the parents will receive instruction
on the monitoring and dietary management of their baby.
Babies with a milder variant of the condition may be referred to the outpatient clinic. This
information will be clearly given to the designated liaison nurse at the time of the initial
contact.
11.2 Follow up for suspected positive cases of MSUDThe Director of the NNBSL or deputy will discuss the case with the on-call Metabolic
Paediatrician. He/She will then either contact the designated liaison nurse or the
Paediatric Registrar in the maternity unit/hospital directly and arrange for the baby to be
admitted as a matter of urgency, either to the local Special Care Baby Unit or directly to
CHI at Temple Street.
If the baby is to be admitted to: the local SCBU team;– Explain to the parents what disorder the baby is suspected of having– On admission, examine the baby in detail and check the urine/bloodfor the presence of ketones;– Arrange for 2mL of whole blood collected into a lithium heparin
tube for plasma branch chain amino acids to be sent immediately to
the Metabolic Laboratory, Temple Street.
Contact the on-call Metabolic Paediatrician at Temple Street for further advice onmanagement.
 CHI at Temple Street;– Parent(s)/legal guardian(s) must be informed that the baby will be
admitted to hospital until the results of tests are known. If thediagnosis is confirmed, the baby will remain in hospital until the
Metabolic Paediatricians are satisfied that the baby’s condition isunder control and that the parents will be able to cope at home.

11.3 Follow up for suspected positive cases of HCU
The Director, Clinical Liaison officer or deputy will contact the designated liaison nurse.
The designated liaison nurse will be asked to: Locate the baby and parent(s)/legal guardian(s) and explain to them why
a blood sample is required and what disorder the baby is suspected ofhaving;
 Arrange for the baby to have a blood sample taken 2 mL of whole bloodcollected into a lithium heparin tube for methionine, total homocysteine
and liver functions tests.
If the plasma methionine and total homocysteine are raised this supports thediagnosis, arrangements will be made for the parent(s)/legal guardian(s) to attend
the Metabolic outpatient at CHI at Temple Street.
11.4 Follow up for suspected positive cases of Classical Galactosaemia
The Director, Clinical Liaison officer or deputy will contact the Paediatric Registrar in
the maternity unit/hospital to arrange immediate admission to the local Paediatric unit.
They will be asked to:

Locate the baby and parent(s)/legal guardian(s) as a matter of urgency;
Explain the nature of the condition and to bring their baby directly into
the local paediatric unit where the baby will be admitted to hospital forfurther investigations.

On admission, all lactose and galactose containing feeds including breast milk should be
replaced by soya-based feeds. The baby should be examined and the following
investigations performed:– Liver function tests– Coagulation screen– Blood cultures (to exclude, for example, E coli septicaemia)– Repeat screening card
As soon as the results of the investigations are available the local clinicians must contact
the on-call Metabolic Paediatrician at Temple Street Children’s University Hospital todiscuss further action.

11.5 Follow up for suspected positive cases of MCADDThe Director, Clinical Liaison officer or deputy will contact the Paediatric Registrar
in the maternity unit/hospital. They will be asked to:

Locate the baby and parent(s)/legal guardian(s) as a matter of urgency;
Explain the nature of the condition suspected and to bring their baby
directly into the local paediatric unit for assessment and further
investigations
All babies with an MCADD suspected screening result should be referred to the
Metabolic Unit Temple St. on the same day the screening result is available. The
following tests should be performed: urine organic acids and DBS acylcarnitines and thefollowing may be considered: blood glucose, liver function tests, ammonia and CK.
N.B.: Feeds protocol for MCADD screen positives or babies at high risk
It is essential to ensure that the baby maintains a good milk intake until results areavailable. If baby is well it should be bottle fed every 3 hours or if breast fed every
2-3 hours during day time and every 3 hours at night (at least 10 minutes on the breast).
Exclusively breast fed babies are particularly at risk in the first few days when the supplyof breast milk is poor; top up feeds of expressed breast or formula milk may be necessary
until a good milk supply is established. Seek advice from the Metabolic clinical team in
Temple St.
If oral feeds are not tolerated, or if the baby is unwell in any way, urgent referral should
be made to a Metabolic Paediatrician for review and consideration of IV glucose.
11.6 Follow up for suspected positive cases of GA1
The Director, Clinical Liaison officer or deputy will contact the Paediatric Registrar
in the maternity unit/hospital. They will be asked to:

Locate the baby and parent(s)/legal guardian(s)Explain the nature of the condition suspected and to bring their baby
directly into the local paediatric unit or Temple St. for assessment. If
advised by Metabolic Consultant the baby may be admitted to hospitalfollowing further investigations.

All babies with a GA1 suspected screening result should be referred to the Metabolic unit
Temple St. on the same day the screening result is available. The following tests shouldbe performed: urine organic acids and DBS Acylcarnitine profile, Renal profile(locally). A liver profile may be considered (locally).
N.B.: Feeds protocol for GA1 screen positives
Feeding routine needs to be established and the baby must continue with regular feeding.
If oral feeds are not tolerated, or if the baby is unwell in any way, urgent referral should
be made to a Metabolic Paediatrician for review and consideration of IV glucose.

11.7 Follow up for suspected positive cases of Cystic Fibrosis
The results of the screening test will be available by approximately the third week of life:

The Clinical Liaison Officer will contact the designated liaison nurse in thematernity unit/hospital to obtain the parent(s)/legal Guardian(s) contact
details and any relevant clinical information. She/he will then contact the
CF Nurse Specialists in the appropriate HSE designated paediatric CF
Centres, to give them the full contact details, relevant clinical informationand the results of the mutational screen.
The CF nurse specialist will book a sweat test appointment, and thencontact the parent(s)/legal guardian(s) to arrange for the baby to attend thenearest CF centre the following day.

On arrival, the parents will be fully informed as to what will happen; the baby will have asweat test, the results of which should be available by early afternoon on the same day if
sufficient sweat is collected. Depending on the results of the sweat test, the parents will
be informed that their baby has CF or is a carrier of the condition. If the baby isconsidered to be a CF carrier and is therefore unlikely to have CF the parents will bereferred for genetic counselling.
HSE Designated Paediatric CF Centres
 Dublin:
CHI at Temple St.
CHI at Crumlin
CHI at Tallaght Cork:Cork University Hospital Limerick:
University Hospital Limerick
 Galway:
University College Hospital, Galway
11.8 Follow up for suspected positive cases of Congenital Hypothyroidism
The procedure may vary slightly depending on the age of the baby, the degree of
elevation of the blood Thyroid Stimulating Hormone (TSH) level and referral hospital.
However, clear instructions will be given. The designated liaison nurse will be asked to:

Locate the baby and parent(s)/legal guardian(s)Explain to the parent(s)/legal guardian(s) what disorder is suspected
Arrange for the baby to attend the designated hospital to be examined,
have blood tests performed, and a thyroid scan; depending on thyroid
function test result, following which the baby will usually be started on
thyroid hormone replacement.

If the blood TSH level is confirmed as being very high, and if the baby is approaching tendays of age, thyroid hormone replacement may be started before they attend the hospitalfor a thyroid scan.

The NNBSL on occasion performs TSH analysis on dried blood spot samples from
Down Syndrome patients, as it is often less traumatic than a venous sample.
11.9 Follow up for suspected positive cases of ADA-SCID
The Director, Clinical Liaison officer or deputy will contact the Paediatric Registrar
in the maternity unit/hospital. They will be asked to:

Locate the baby and parent(s)/legal guardian(s) as a matter of urgency;
Explain the nature of the condition suspected and to bring their baby
directly into the local paediatric unit for assessment and further
investigations.

Upon attendance take 2mls of EDTA (fresh, whole blood, ambient temperature, do notfreeze) and send immediately to the Immunology laboratory in St. James’s Hospital forflow cytometery and ADA enzyme analysis.
Perform a clinical evaluation of the baby this must be discussed with CHI at Crumlin
Immunology team to determine whether the infant needs hospital admission or can bedischarged home to await blood results. NNBSL will give specific instructions on theabove requirements at the time of a screen positive.

Acknowledgements
We would like to acknowledge the dedication and commitment that so many different
healthcare professionals put into this programme for the benefit of the few babies borneach year who are affected by one of these conditions.
We would welcome any comments and feedback that individuals may have on thisedition. More information about the programme may be obtained at:www.newbornscreening.ie and www.hse.ie/go/newbornscreening.

12

Appendices

Appendix No. 1: Incorrect Location FormAppendix No. 2: Opt-Out FormAppendix No. 3: Scan of Newborn Bloodspot Screening Card
Appendix No. 4: Copy Result Request FormAppendix No. 5: eReporting User Information
Appendix No. 6: Patient Detail Amendment form
Appendix No. 7: Metabolic Follow-up sample request form
Appendix No. 8: ADA SCID Follow-up sample request form
Appendix No. 9: Sample Checklist

Appendix No. 1

Incorrect Location FormAppendix No. 2

Opt Out FormAppendix No. 3

Scan of Newborn Screening card (front and back)Appendix No. 4

Copy result request form

Available from laboratory, email info.newbornscreening@cuh.ie

Appendix No. 5

Specimen Gate eReports™ instructions

To access e-reports: In your internet browser type or copy the following URL andsave to favourites.
http://sgateweblive.healthirl.net/ereportsor
http://10.0.37.81/ereports
Each user, logins using their own ‘user name’ and ‘password’ assigned by the
NNBSL, see below

From here it is possible to search for a specific sample or download list or single reports.

To Download Reports
 Select ‘Download Reports’ (left hand side menu) – the most recent reports(list and single) for your location will be visible to each user in pdf format.
 In this view, select ‘List Report’ to open the latest List Report of normal
results or select ‘Single Report’ to open separately in pdf viewer.
 Select ‘Show all Reports’ to view / print all reports for the previous 60 days.
Note: If reports have been archived after 60 days they will need to be
individually regenerated. If reports are greater than 18 months they cannot beregenerated.

To do a search for a Specific Sample or group of samples select ‘Specimen
Search’ (left hand menu). Use below criteria, use DOB either for 1 day or a range.

A specific sample can be searched for
Example: To search for a Baby Murphy DOB 11/03/2013 (MUST be dd/mm/yyyy)

Select ‘search’ for the following screen:

Report: To view the report select ‘View Report List’ from left hand side ‘Report’column to open. If the sample has been received in the laboratory but the results are not
yet available then this will be viewed as ‘Results Pending’.
Determination: The ‘Determination’ column will display ‘Normal’ if all therequested tests have a result of ‘Not Suspected’. This column will display ‘other’ if
a result for any condition is abnormal and/ or a repeat card is required.
Note:
1. To search for all samples from your location for a particular DOB enter range
only: all babies with DOB of 14/05/2013 enter from 14/05/2013 to 14/05/2013.
2. To search by UPI, dash (-) must be placed after the three digit HIPE Code andensure that the letter (if any) is included e.g. Coombe 930-B12345678.

Appendix No. 6
Patient Detail Amendment form
Available from laboratory, email info.newbornscreening@cuh.ie

Appendix No. 7
Metabolic follow-up sample request form
Available from laboratory, email info.newbornscreening@cuh.ie

Appendix No. 8
ADA SCID follow up sample request form
Available from laboratory, email info.newbornscreening@cuh.ie

Appendix No. 9

Sample Checklist