Better Prognosis in Newborns with Trisomy
13 Who Received Intensive Treatments: A
Retrospective Study of 16 Patients
Keiko Tsukada, George Imataka, Hiroshi
Suzumura & Osamu Arisaka

Cell Biochemistry and Biophysics
ISSN 1085-9195
Cell Biochem Biophys
DOI 10.1007/s12013-012-9355-0

1 23

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Cell Biochem Biophys
DOI 10.1007/s12013-012-9355-0

ORIGINAL PAPER

Better Prognosis in Newborns with Trisomy 13 Who Received
Intensive Treatments: A Retrospective Study of 16 Patients
Keiko Tsukada • George Imataka • Hiroshi Suzumura •Osamu ArisakaÓ The Author(s) 2012. This article is published with open access at Springerlink.com

Abstract Intensive treatment for newborns with trisomy
13 is controversial because of their lethal prognosis. We
report the better life prognosis of patients with trisomy 13
who received intensive treatment. At our hospital, we
provided an intensive management to such patients
including resuscitation and surgical procedures as required.
Herein, we present the results of a retrospective study(1989–2010) of 16 trisomy 13 cases who received an
intensive treatment. None was diagnosed to have trisomy
13 before birth; 9 were delivered by C-section and oxygen
was administered to all patients during postpartum resuscitation. Mechanical ventilation was used in 9 patients aftertracheal intubation and tracheotomy was performed in
2 patients when withdrawing of extubation was difficult.
Regarding prognosis, 9 patients died, 3 were referred toanother hospital, and 4 were discharged from the hospital.
Four and 7 patients died within 7 and 30 days after birth,
respectively. Nine patients survived for [1 month, 7 for[180 days, and 5 for [3 years. Median survival for 16
patients was 733 days. The patients who received intensive
treatments survived longer compared to the previous data.
This study provides useful information concerning genetic
counseling, especially from an ethical point of view,
before providing intensive management to newborns withtrisomy 13.
Keywords Trisomy 13  Prognosis  Intensive treatment 
Survival  Natural history

K. Tsukada  G. Imataka (&)  H. Suzumura  O. Arisaka
Department of Pediatrics, Dokkyo Medical University Schoolof Medicine, Kitakobayashi 880, Mibu, Tochigi 321-0293, Japane-mail: geo@dokkyomed.ac.jp

Introduction
Trisomy 13, first reported by Patau et al. [1], is the third
common trisomy in live born infants. It is clinically associated with various anomalies, found in 80 %, of cardiac
and circulatory systems, such as mainly ventricular septal
defect, patent ductus arteriosus, auricular septal defect and
60–80 % with cleft lip and/or palate of mouth, and 50 % ormore with the following: central nervous system withholoprosencephaly, hearing system with apparent deafness,cranium with microcephaly with sloping forehead, eyeswith microphthalmia and colobomata of iris, retinal dysplasia, abnormal auricle helices, skin with capillary hemangioma of forehead, distal palmar axial triadii, simiancrease, hypoconvex narrow fingernails, flexion of fingers
with or without overlapping and camptodactyly, polydacyly of hand, skeletal of thin posterior ribs and hypoplasiaof pelvis, males with cryptorchidism/abnormal scrotum andfemales with bicornuate uterus and another malformationaccompanied by severe psychomotor disorder [2, 3]. The
prevalence studies from Denmark and United Kingdom
reported birth prevalence in live born of trisomy 13 as *1
in 20,000 to 1 in 29,000 [4, 5]. The Hawaiian study
reported prevalence at birth of trisomy 13 as 1 in 12,048 inlive born infants [6]. Jones described that the incidence was*1 in 5,000 births [3]. Generally, natural prevalence ofdelivery at birth of trisomy 13 is between 1 in 5,000 and
1 in 29,000, which is the third most common autosomal
trisomy in newborns following trisomy 21 and trisomy 18.
The approach to the management policy of a third-trimester fetus and infant with trisomy 13 and 18 is quite
complicated, and the existing literature is controversial.
The principal reason for the complexity surrounding decision making in the care of infants with trisomy 13 relates tohigh neonatal and infant mortality in both conditions [7, 8].

123

Cell Biochem Biophys

Avoidance of delivery by cesarean section when a fetus is
known to have trisomy 13 appears to be the trend in
Denmark as shown by obstetrics literature. There wasstrong consensus among physicians working in perinatal
medicine toward abortion for social reasons or because ofabnormal prenatal diagnostic results that abortion is
acceptable until week 21 in the case of trisomy 13 [9].
Moreover, there tends to be extremely negative information
about survival of trisomy 13. It is important to acknowledge that the prognosis is lethal. Approximately, 50 % ofinfants with trisomy 13 will live longer than a week and5–10 % of infants will live past 1 year [7, 8]. Tradition, as
reflected in the pediatric literature, also indicates a nonintervention approach in the newborn management of trisomy 13. Bos et al. [10] summarized these issues, arguingthat early diagnosis was very important so that surgery
could be withheld. The important issues that emerge in thecounseling and management of newborn infants with trisomy 13 are high infant mortality. Survivors have severe
mental retardation, often seizures, and fail to thrive. So thatsurgical or orthopedic corrective procedures should be
withheld in early infancy to await the outcome of the firstfew months [3].
In Japan, the policies for the treatment of chromosomal
anomalies including trisomy 13 and 18 with poor long-term
prognoses are determined based on either of two controversial concepts: (i) the provision of thorough love and carewhile avoiding excessive intensive treatment; or (ii) the
provision of active intensive treatment including resuscitation and surgery according to the clinical conditions of an
infant and in accordance with the wishes of the infant’s
parents [11, 12]. The most important problems in thisargument were that there was no evidence about the
improvement of prognosis of trisomy 13 treated at the
Neonatal Intensive Care Unit (NICU) of Dokkyo Medical
University Hospital. In the same context, Kosho et al. [11,13] investigated the prognosis of intensive treatments in 24
Japanese patients with trisomy 18 at NICU. This reportargued better prognosis of trisomy 18 through treatment at
NICU based on improved survival period, and the data
provide helpful guidelines for clinicians by offering thebest information on treatment options for families ofpatients with trisomy 18. However, there is still a lack ofprecise data concerning the clinical details and prognosis
regarding intensive treatments of patient with trisomy13.
The NICU at the Dokkyo Medical University Hospitalprovides the intensive treatments including resuscitation of
intratracheal intubation, respiratory support, and some kindof surgery for trisomy 13 and 18, if informed consent isobtained from the family after counseling. At NICU, thefive tentative treatment policies for trisomy 13 and 18 withpoor long-term prognoses of survival are as follows: (1)The treatment policy is determined without relation with123

trisomy 13 and 18, and is determined after the pathology,
treatment options and risks involved have been explained
to the parents; (2) The actual initial treatment with resuscitation and medical therapy after delivery are provided toneonates who have ordinary cases, and surgical treatment isalso not limited; (3) With respect to surgical treatment andresuscitation, even in case of long-term survival; (4) Psychological care for family is regularly provided by clinicalpsychotherapists; and (5) Management at home is actively
discussed if the family wishes for it.
In this study, in order to determine the survival period of
trisomy 13 patients who received intensive treatment,
we retrospectively analyzed the detailed clinical data of
16 patients with trisomy 13, admitted to NICU at the
Dokkyo Medical University Hospital from 1989 to 2010.

Patients and Methods
This study comprised 6,230 newborn infants who were
hospitalized at the neonatal care unit of Dokkyo University
Hospital, Japan during the period of 22 years from 1989 to2010. Newborn infants presenting with external malformations or organ malformations that were observed during
the clinical examinations underwent chromosomal
analysis, and 183 patients (2.94 %) were diagnosed withchromosomal anomalies. Of these, 138 patients (2.22 %)were diagnosed with numerical autosomal aberration. A
breakdown of these patients of numerical autosomal aberration shows trisomy 21 in 83 patients (1.33 %), trisomy 18
in 39 patients (0.63 %), and trisomy 13 in 16 patients(0.26 %). Other chromosomal abnormalities were 45
patients (0.72 %) including 2 patients with trisomy 8mosaic and 2 patients with 4p-syndrome and others. In thisstudy, we retrospectively investigated the NICU medical
records at our hospital regarding the clinical details of 16
patients with trisomy 13 who received intensive treatment.

Results
Family History, Ages of the Parents, Historyof Pregnancy, and Delivery (Table 1)
None of the 16 patients with trisomy 13 had chromosomal
abnormalities in their family histories. The age of themothers ranged from 20 to 42 years (average: 32.9
years) including mothers who were over 35-years-old for7 patients and over 40-years-old for 2 patients. The age of thefathers ranged from 22 to 47 years (average: 33.8 years)
including fathers who were over 35-years-old for 7 patientsand over 40-years-old for 3 patients. Regarding the history ofprevious delivery, 5 patients had parous mothers. In terms of

Cell Biochem Biophys
Table 1 Family history, age of parents, pregnancy, and delivery regarding 16 patients with trisomy 13
Patients

Age of parents(father/mother)

History ofpreviousdelivery

GenderPrenatal ultrasonographic
findings

CesareansectionApgar score(1 min/5 min)Gestationalage (weeks)Birthweight
(g)

1

31/29

–

M

Hydrocephalus IUGR

–

3/4

35

1,582

2

32/32

–

F

Holoprosencephaly
umbilical hernia severe
IUGR

?

1/2

35

1,756

3

32/31

–

M

IUGR

?

3/6

40

2,162

4

35/42

?

M

Hydronephrosis

?

1/3

33

3,378

5

41/40

?

M

IUGR oligoamnios

?

2/5

37

2,254

6

22/20

–

F

IUGR

–

6/7

37

2,237

7

33/33

–

F

Hydrocephalus oligoamnios

?

8/9

35

2,540

8

30/35

?

M

–

–

8/9

36

2,380

9

34/32

–

F

Holoprosencephaly IUGR

?

1/3

36

2,784

10
11

22/21
36/35

–
–

M
F

IUGR
Hydrocephalus IUGR
polydactyly origoamnios

–
–

8/8
4/9

37
35

2,342
1,960

12

29/33

–

M

Severe IUGR

–

3/7

34

1,602
1,746

13

39/37

?

M

Origoamnios

14

36/36

–

F

Severe IUGR

–

8/10

37

15

47/34

?

M

IUGR

–

4/8

39

3,366

16

41/37

–

M

IUGR

?

3/6

35

1,950

M male, F female, IUGR intrauterine growth retardation

gender, there were 10 males and 6 females. A definitive
prenatal diagnosis of amniotic fluid test for trisomy 13 was
not carried out for any of the 16 patients. However, in 15
patients diagnosed with trisomy 13, some type of abnormality was indicated in the ultrasonography test during thecourse of pregnancy, such as intrauterine growth retardationin 11 patients and brain malformations in 5 patients. The termof delivery ranged from 33 to 40 gestational weeks (average:
35.9 gestational weeks). Regarding the method of delivery, 9patients were delivered via a cesarean section and 7 patientswere delivered via a spontaneous cephalic delivery. The
delivery term for the performance of cesarean section ranged
from 33 to 40 gestational weeks (average: 35.8 gestational
weeks).
The average of Apgar Score at the time of birth was 4.25
points for 1 min scores and 6.5 points for 5 min scores. The
birth weight ranged from 1,582 to 3,378 g, with an average
weight of 2,243 g. The breakdown includes 7 patientsweighing 1,500 to 2,000 g, 5 patients weighing 2,000
to 2,500 g, 2 patients weighing 2,500 to 3,000 g, and2 patients weighting at least 3,000 g.
Chromosomal Analysis, External Malformations,and Organ Malformations (Table 2)
The chromosomal karyotypes of all 16 patients were diagnosed using a G-band method. The r karyotypes included

full trisomy 13 in 14 patients, mosaic type of trisomy 13 in
1 patient, and Robertsonian type of translocation in 1 patient.
The major external craniofacial malformations included
scalp defects in 5 patients for the head and cleft lip and palate
in 10 patients for the face; malformation of abdomen included umbilical hernia in 8 patients. Polydactyly was noted in 6
patients for the extremities. Among the major organ
malformations, 3 patients had alobar and 1 patient had semilobar type of holoprosencephaly. Dandy-Walker malformation was observed 1 patient and olfactory aplasia andfenestration of the septum pellucidum in 1 patient for thebrain. As for the heart, some type of congenital cardiac disorder was observed in all patients. The breakdown includes
atrial septal defect in 7 patients, ventricular septal defect in 6
patients, patent ductus arteriosus in 7 patients, coarctation of
the aorta in 3 patients, endocardial cushion defect in 2
patients, tetralogy of Fallot (TOF) in 3 patients, and doubleoutlet right ventricle (DORV) in 3 patients. Combined
respiratory malformations included congenital hypoplastic
lung in 2 cases and congenital tracheal stenosis in 2 cases.
Administration of Oxygen and the Use of Mechanical
Ventilation and Surgical Treatment (Table 3)
Signs of acute respiratory failure were observed in 13
patients after birth. To resuscitate, oxygen was administered to all 16 patients. Mechanical ventilators were used

123

123

Full trisomy

Full trisomy

Full trisomy

Full trisomy

Full trisomy

Robertson
type
trisomyFull trisomy

Full trisomy

Full trisomy

Full trisomy

Full trisomy

Full trisomy
Full trisomy

Full trisomy

Mosaic type
trisomyFull trisomy

1

2

3

4

5

6

7

8

9

10

11

12
13

14

15

16

Low set ears

Scalp defecthemangioma––
Scalp defectlow set ears

–

–

–

Scalp defectlow set ears––

Low set ears

Scalp defectScalp defecthemangioma

–

–

–

–

Cleft lip andpalate–Cleft lip andpalateCleft lip andpalateCleft lip andpalateCleft lip andpalate lack of
nose–

Cleft lip andpalate–Cleft lip andpalate–Cleft lip andpalateCleft lip andpalateCleft lip andpalate lack ofnose

Undescended testis

Bowel malrotation
inguinal hernia–

Umbilical hernia
Umbilical hernia–

Inguinal hernia–

Umbilical hernia–

Necrotizing
enterocolitis

Umbilical hernia

Prune belly
syndrome
umbilical hernia–

Umbilcal hernia

Umbilcal hernia
intestinal fistula

Polydactyly

Narrow fingernails
micropenis buried
penis

–

–
Polydactyly

Polydactyly––

Polydactyly narrow
fingernails––

Finger apposition
anomaly–

Polydactyly
cryptorchidism–

Polydactyly

Extremities others–

Septum pellucidum
fenestration olfactoryaplasia

Dandy–Walker
malformation

–
–

–

–

Holoprosencephaly (semilober type)–

Holoprosencephaly(alober type)

–

–

–

–

Holoprosencephaly(alober type)

Holoprosencephaly(alober type)

Brain malformation

Abdomen

Head

Face

(Organ malformations)(Major external malformations)

ASD PDAASD PDAASD

ASD PDATOF PAPDA CoATOF

VSD ASD
CoA

TOF
MAPCA

VSD PDAVSD CoAECD PSVSD DORVPDA ECD
DORV PSVSD ASDDORV

VSD ASDPDA PH

Congenital
heart disease

Respiratory failure

Respiratory failure

Respiratory failure

Vocal cord anomaly
Respiratory failure

PPHN respiratory failure

Respiratory failure

Respiratory failure

Respiratory failure

PPHN respiratory failure

Respiratory failure

Hypoplastic lung tracheal
stenosis respiratory failure

Tracheal stenosis
tracheoesophageal fistula
respiratory failure

Respiratory failure

Unseparate superior and inferior
with hypoplastic lungRespiratory complications

VSD ventriculoseptal defect, ASD atrial septal defect, PDA patent ductus arteriosus, DORV double-outlet right ventricle, ECD endcardial cusion defect, PS: pulmonary stenosis, CoA coarctationof the aorta, TOF tetralogy of Fallot, PPHN persistent pulmonary hypertension of newborn, MAPCA major aortopulmonary collateral arteries

KaryotypePatients

Table 2 Chromosomal analysis, external malformations, organ malformations with 16 patients of trisomy 13

Cell Biochem Biophys

Cell Biochem Biophys
Table 3 Administration of oxygen and the use of mechanical ventilation and surgical treatment, others with 16 patients of trisomy 13
Patients

Resuscitationof oxygen

Mechanicalventilation

Mode ofventilation

Surgical treatment

Others

1

?

–

–

–

–

2

?

?

IMV

–

Seizures

3

?

–

–

–

–

4

?

?

IMV, HFO

Operation for paracentesis of hydronephrosis

–

5

?

–

–

–

–

6

?

–

–

–

–

7
8

?
?

–
?

–
IMV

–
Operation for umbilical hernia

–

9

?

?

IMV

–

Seizures

10

?

–

–

–

HOT

11

?

–

–

Plastic operation for cleft lip and palate operation
for PDA ligation subcravian method for CoA–
Seizures

12

?

?

IMV

–

13

?

?

IMV

Blalock–Taussig operation for TOF

–

14

?

?

IMV

–

–

15

?

?

IMV

Tracheotomy operation for inguinal hernia operation
for buried penis

Seizures

16

?

?

IMV

Tracheotomy

HOT

IMV intermittent mandatory ventilation, HFO high frequency oscillation, HOT home oxygen therapy, PDA patent ductus arteriosus, CoAcoarctation of the aorta, TOF tetralogy of Fallot

for 9 patients to control acute respiratory failure after tracheal intubation. The tracheal intubation was unsuccessful
in 1 patient due to severe tracheal stenosis.
The various types of congenital malformations wereobserved in all 16 patients with trisomy 13; consultations withspecialized surgeons were conducted to determine whether
surgical treatment would be possible. Due to the difficulty oftube withdrawal after prolonged intubation, tracheotomy was
performed for 2 patients. After tracheotomy, respiratory
conditions in both patients were stabilized and they were able
to survive for long-time period over 7 years. Abdominal
operation for umbilical hernia was performed in 1 patient andfor inguinal hernia in 1 patient. Plastic operation of the cleft
lip and palate was performed in 1 patient in order to improvethe cosmetic problem at 210 days of birth before discharge.
Cardiac surgery was performed in 2 patients with trisomy 13.
Ligation for patent ductus arteriosus and subclavian methods
for coarctation of the aorta were carried out for 1 patient but
she was died at 592 days of birth because of respiratory
failure. Cardiac operation using Blalock–Taussig method was
performed for TOF in 1 patient at 330 days of birth and she
has survived for more than 3 years and 3 months now.
Outcomes and Main Cause of Death (Table 4)In-hospital death at NICU occurred in case of 9 patients,
whereas 7 patients were discharged with the condition ofhomecare. Among them, 3 patients were referred by our
hospital to another specialized institution close to thepatients’ homes for training purpose of homecare nursing
at days 349, 251, and 63 after birth. The ages of 4 patientsdischarged from our hospital to their homes while they
were alive were 336, 331, 256, and 204 days after birth.
The average of median hospital stay regarding 7 patients
who could be discharged including stay in another specialized institute was 256 days after birth. The survival
period of the16 patients with trisomy 13 ranged from deathat day 1 (within 24 h of birth) to 10 years and 1 month(this patient lives until now).
The breakdown includes death at 1st day of birth, within
24 h, for 1 patient (6.25 %), death within 7 days of birthfor 4 patients (25.00 %), and death within 1 month of birthfor 7 patients (43.75 %). On the other hand, 9 patientssurvived for more than 1 month (56.25 %), 6 patientssurvived for more than 1 year (37.50 %), and 3
patients survived for more than 5 years (18.75 %). Therefore, the survival rates at ages of 1 day, 1 week, 1 month,
6 months, 1 year, 3 years and 5 years were 93.75, 75.00,
56.25, 43.75, 37.50, 31.25, and 18.75 %, respectively.
Median survival time for all 16 patients, both males andfemales, were 733, 887, and 534 days, respectively.
We also reviewed the data in detail to analyze the maincause of death. Some characteristic trend was recognized asfollows: death occurred in 4 patients within 1 week of birth123

Cell Biochem Biophys
Table 4 Outcomes and life prognosis with 16 patients of trisomy 13
Patients

Discharge(days)

Transfer anotherhospital (days)

Home care

Survival time (days)

Main cause of death

1

–

–

–

12 h

Respiratory failure due to hypoplastic lung

2

–

–

–

1

DORV

3

–

–

–

1

DORV tracheal stenosis

4

–

–

–

2

DORV

5

–

–

–

11

Heart failure

6

–

–

–

14

PPHN respiratory failure

7
8

–
–

–
–

–
–

21
39

Heart failure respiratory failure
Heart failure

9

–

–

–

50

Heart failure respiratory failure

10

204

–

?

325

Bacterial infection

11

255

–

?

592 (live)

–

12

63

63

?

1186

Respiratory failure

13

349

349

?

1219 (live)

–

14

251

251

?

1842 (live)

–

15

336

–

?

2,705

s/o central apnea

16

331

–

?

3,713 (live)–

DORV double-outlet right ventricle, PPHN persistent pulmonary hypertension of newborn, s/o suspect ofdue to a major organ anomaly; especially, 3 patients had
DORV and in 2 of 3, intubation with ventilation management was performed. On the other hand, 4 of 6 patientsfrom long-survival group (over 365 days, now living)
had some kind of surgery that included tracheotomy in
2 patients and cardiac surgery in other 2 patients. Moreover, 5 of 6 patients from long-survival group (over365 days) had a history of ventilation therapy.
The longest survival time was set at 365 days (Fig. 1)
and 1,825 days equal 5 years (Fig. 2) in the Kaplan–MeierFig. 1 Kaplan–Meier survival curves. Kaplan–Meier survival curves
are shown for patients with trisomy 13 who received treatment at theneonatal intensive care unit (NICU) of Dokkyo Medical University
Hospital. The data represent 16 trisomy 13 patients. The vertical andhorizontal axes represent % survival and survival time (days),respectively, setting the longest survival time at 365 days

123

survival curves prepared from the mortality data of all 16
patients with trisomy 13. These Kaplan–Meier survival
curves showed mainly two groups: one group that survived
for about 2 months and the other group survived for over
365 days.

Discussion
Among autosomal chromosomal abnormalities, birth isgenerally believed to be possible in patients of trisomies
21, 18, and 13. Of these, trisomies 18 and 13 are also
referred to as fatal chromosomal abnormalities that lead tothe development of many severe malformations [14]. Most
patients with trisomy 18 and 13 present with severe
psychomotor delay, even if they survive for a long period[4, 15, 16]. Historically since the 1980s, resuscitation andsurgical treatments for trisomy 18 and 13 have been discussed both from medical and ethical standpoints, taking
into consideration the quality of life for the patients andfamilies, medical and economical issues, and the medical
standards in different countries. In Japan, the concept of‘‘no treatments beyond current treatments’’ as proposed by
Nishida and Sakamoto [12] of the Tokyo Women’s Medical University has influenced many medical institutions
with regard to medical care and management of newborn
infants. However, recently, there are few reports of patientswith trisomy 13 in Japan who have survived for long
periods [17]. Notably, the current problem in Japan is, theprimary doctors who tend to patients with trisomy 13 or
trisomy 18 provide healthcare by their own medical

Cell Biochem Biophys

Fig. 2 Kaplan–Meier survival curves. Kaplan–Meier survival curves
are shown for patients with trisomy 13 who received treatment at theneonatal intensive care unit (NICU) of Dokkyo Medical University
Hospital. The data represent 16 trisomy 13 patients. The vertical andhorizontal axes represent % survival and survival time (days),respectively, setting the longest survival time at 1,825 days

environments and policies, and no discrete guidelines inthis concern have been established. Regarding the medical
policy of negative intensive treatment performed without
the explanation of detailed medical information, a part of
support group members with trisomy 18 or trisomy 13 inJapan have expressed a desire for more active intensive
treatment after informed consent.
As for the prognoses of trisomy 13, there is one known
report published in 2003 by the American Research Group
regarding a large-scale survey of 5,515 cases. According tothis report, the average age at the time of death was
10 days, but 5.6 % of the cases survived for more than
1 year [8]. Besides, other long-term survival cases werereported including a 38-year-old adult case of trisomy 13[18]. There have been several other reports about long-term
survivors with trisomy 13 [4, 5, 8, 16, 19]. As summarizedin Table 5, our data represent significantly longer mediansurvival periods for the patients with trisomy 13 treatedintensively at the NICU.
Of note, two reports have compared between active
intensive treatment and non-active treatment with regard toprognosis of trisomy 18 [11, 14] but no such reports areavailable regarding trisomy 13. Herein, we present for the
first time a study of patients with trisomy 13 who received
active intensive treatment and discuss the clinical picture
and prognosis. Our data suggest that the patients with trisomy 13 who have survived over 60 days after birth may
have a high probability of long-term survival. In the previous report on survival of trisomy 18 patients, those who
survived longer than 7 months after birth might have a highprobability of long-term survival prognosis [14]. In thisstudy, we should not only consider 9/16 (56.25 %) ofpatients with trisomy 13 who died in the hospital without
discharge but also those 7/16 (43.75 %) of patients who
were discharged or transferred for purpose of homecare. As
our data reveal, one of the major causal factors involved inlong-term survival of patients with trisomy 13 is whether
the provision of active resuscitation should follow immediately after birth, and then the various surgical treatments
should be performed in survivors such as tracheotomy andcardiac surgery. Two previous studies reported intensive
cardiac management in patients with trisomy 13 or trisomy
18 [20, 21]. These studies summarized intensive cardiac
management including pharmacological intervention, performed to improve the survival periods in patients withtrisomy 13 or trisomy 18. In our study, two patients
underwent cardiac surgery. One surgical procedure
involved ligation of patent ductus arteriosus and subclavian
methods for coarctation of the aorta, the other was Blalock–Taussig procedure for TOF; and both survived forlong periods: 592 days and more than 3 years and3 months (living until date), respectively. In addition, all 3
patients with DORV died within 2 days of birth, despitethat fact that ventilation management was performed in 2
cases.

Table 5 Compared survival rates of trisomy 13 in our study with previously reported
Survival time (age)Denmark [4]n = 76% surviving

England [5]n = 16% surviving

Scotland [16]n = 84% surviving

Atlanta, USA [8]n = 114% surviving

Taiwan [19]n = 28% surviving

Japan (our study)n = 16% survival

1 day

77

69

75

86

89

93.75

7 days

40

38

50

56

61

75

1 month

23

13

28

30

29

56.25

6 months

10

0

ND

11

7

43.75

1 year

ND

0

3

9

4

37.5

3 years

ND

0

ND

ND

4

31.25

5 years
Median survival (days)

ND
2.5

0
4

ND
8.5

ND
7

ND
9

18.75
733

ND no data

123

Cell Biochem Biophys

In conclusion, although our clinical data represent asmall number of trisomy 13 patients, we did observe significantly better survival prognosis in the patients who
received intensive treatment management. Our clinicalresults underscore the need to consider obtaining informed
consent and counseling from patients’ families for the
future determinations of treatment policy for trisomy 13
patients.
Acknowledgments This work was supported by three grants: one
from Japanese Ministry of Education, Culture, Sports, Science andTechnology (MEXT) (Ref. KAKENHI 18790733), second Grantin-Aid for Young Scientists (B), and the Investigator-InitiatedResearch Grant from Dokkyo Medical University (No. 2005-01-5/
No. 2009).
Open Access This article is distributed under the terms of theCreative Commons Attribution License which permits any use, distribution, and reproduction in any medium, provided the original
author(s) and the source are credited.

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