Telling the parents: Newborn blood spot screening for cystic fibrosis
Authors: Di Asplin
Journal: Journal of the Royal Society of Medicine (2008)

Newborn blood spot screening for all babies for phenylketonuria (PKU) commenced in 1969, following a government directive.1 Screening for congenital hypothyroidism (CHT) was added 11 years later. In Birmingham, a pilot project for sickle cell disorders (SCD) commenced in 1978; this program was expanded to cover the whole of the West Midlands in 2003/4. Screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) commenced as a pilot project in 2004, and screening for cystic fibrosis (CF) began in November 2006. The current recommendation is that the CF test should be taken when babies are 5–8 days of age.2

My role as Clinical Nurse Specialist (CNS) enables me to be the first contact for parents, at home, following a positive screening test result. I also have a clinical role with patients with PKU and other inherited metabolic disorders (IMDs), undertake home and other community visits and organize and participate in regular teaching about newborn screening for midwives and other health professionals. This teaching aspect is laboratory-based and has been established for over 20 years.

The vision that a nurse working with PKU patients would not only work with the consultant and dietician, but would also visit, at home, the families of babies found to have a positive screening test result, gave families accurate information about the test result and condition prior to their visit to the hospital. The service was originally set up for PKU throughout the West Midlands, as well as CHT and SCD in Birmingham, but it was expanded to include MCADD and SCD for all the West Midlands in 2004. Home visits for the families who needed to be followed up for CF were therefore based on sound and established principles. An understanding of the laboratory aspect of newborn screening, a basic knowledge of CF and experience in both the role and community work was an advantage.

The simplified protocol used in the West Midlands for immunoreactive trypsin (IRT) screening can be seen in Figure 1.



Figure 1

The simplified protocol used in the West Midlands for immunoreactive trypsin (IRT) screening



Following a positive test result and after repeat tests have been undertaken on the same sample, an informing process takes place. The biomedical scientist informs the duty biochemist, who in turn contacts the CF team and one of the CNSs (now two nurses, both community trained). The community team, which consists of a general practitioner, health visitor and midwife, are informed and the family will have a visit at home, usually on the same day.

Babies who are siblings of known CF patients and those with echogenic bowel or meconium ileus should have previously been referred to appropriate paediatricians for investigations.

Modern technology (mobile phones and GPS) have changed the ease with which families can be seen. An initial introduction enables the CNS's role to be explained and inform the family of the positive test result and its implications. Other test results can also be given, as although it is unlikely that their child would have another condition, at this point families often feel that ‘bad luck’ has struck once, so it could also strike again.

Basic information about CF, including leaflets, the hospital appointment and information about the sweat test, blood test and faeces specimen, is given during the visit. It's also useful to leave them with a ‘poo pot’ so that they can potentially save some time the following day! Contact details, directions and timings to the hospital, as well as parking information, are also given. Coming to a hospital is stressful for most families, particularly with a newborn baby, and part of the CNS's role is to lessen the stress as much as possible.

Although the baby will have been previously examined by a health professional, where possible the baby is examined again, to reassure the family that without the blood test, it would be unlikely that anything ‘unusual’ will have been noticed. The Child Health Record is also completed.

Disadvantages of a CNS home visit are that we will probably only see family for the visit, during the sweat test and during the introduction to the CF team; however, many surgeons will also only see their patients for a limited number of visits. Time to prepare and drive to the family home can be an issue, as we cover an area with a radius of approximately 50 miles – but this does include the M6! We also have limited information about the family prior to visiting.

A joint visit together with a midwife or health visitor is ideal, although midwifery practices vary: some have restricted visiting patterns and many areas have team health visiting, meaning that health visitors may have only met the family once. Ideally the health professional would already know the family and can give some information on history, background and family dynamics, and will be able to see the family for support in the future. It is known that families only take in a small amount of information when given new and unexpected news, so the presence of another health professional enables them to repeat information given at that first visit, accurately, at a later stage.3–5

Reactions from the family are never the same, as a positive result is almost always unexpected. Their baby is usually pre-symptomatic and families are usually surprised and shocked. Babies have usually previously been examined by other health professionals and families have no concerns. Therefore, unlike seeing a baby or child whose family have previously been worried, for most parents, the information about the positive test result and CF is being given to them from a different angle. It is unexpected and will often cause uncertainty and distress. Families often feel isolated and in need of extra support and reassurance.

If families have some understanding of the newborn screening test conditions and positive test result procedure, it helps to minimize some of these reactions and families seem to have less fears on the day of their visit.

In the West Midlands, families are usually seen at the hospital on the day following a CNS visit (for PKU, MCADD and CF), and confirmation of the condition is then undertaken. Following the home visit, or the confirmation of the diagnosis, families will grieve. Stages of grief are well documented, particularly denial, anger and depression.6

In my experience and from my previous unpublished questionnaires, families may not remember accurately how they were informed of the positive result. For this reason, a joint visit with another health professional helps to ensure that families can have a sensitive reminder should it be required in the future.

Experience from the Duchenne muscular dystrophy (DMD) programme in Wales has shown that most families preferred to know about DMD at an early stage, but families may experience higher levels of emotional trauma if they have not had an information sheet prior to testing.7

Feedback from the MCADD and SCD screening programmes show that parents acknowledge that there is no easy way to break the news, but they do want to speak to someone as soon as possible. If parents receive an appointment for the hospital by phone or post, they realize that there is a problem, and may worry about other issues.8 A personal visit can help to alleviate or prevent misunderstandings and help families to accept that it is better for them to know about the diagnosis and to be seen promptly.

Home visits can help the family have a positive attitude about the screening test result and the future care of their child and enables the CNS to react to specific situations. Accurate and honest information – at all times and from an informed background – gives the family the best opportunity to come to terms with their child's diagnosis.

When a newborn screening blood test is taken, no one knows which baby will be positive. All families have a right to have accurate pre-screening information, prompt testing, and analysis and reporting of the test results. Newborn blood spot screening aims to improve the long-term outcome results for those with CF or other conditions. Sensitive communication with the family about a positive test result is therefore essential, and should be the first stage in giving the best support available to help that child achieve their maximum potential.