THE JOURNAL OF PEDIATRICS • www.jpeds.

com ORIGINAL
ARTICLES
Infants Born with Down Syndrome: Burden of Disease in the Early
Neonatal Period
Therese Martin, MB1, Aisling Smith, MB1, Colm R. Breatnach, MB1, Etaoin Kent, MD2, Ita Shanahan, MB2,
Michael Boyle, PhD1, Phillip T. Levy, MD3,4, Orla Franklin, FRCPCH5, and Afif El-Khuffash, FRCPI, DCE1,6

Objective To evaluate the incidence of direct admission of infants with Down syndrome to the postnatal ward
(well newborn nursery) vs the neonatal intensive care unit (NICU), and to describe the incidence of congenital heart
disease (CHD) and pulmonary hypertension (PH).
Study design This retrospective cohort study of Down syndrome used the maternal/infant database (2011-
2016) at the Rotunda Hospital in Dublin, Ireland. Admission location, early neonatal morbidities, outcomes, and
duration of stay were evaluated and regression analyses were conducted to identify risk factors associated with
morbidity and mortality.
Results Of the 121 infants with Down syndrome, 54 (45%) were initially admitted to the postnatal ward, but 38
(70%) were later admitted to the NICU. Low oxygen saturation profile was the most common cause for the initial
and subsequent admission to the NICU. Sixty-six percent of the infants (80/121) had CHD, 34% (41/121) had PH,
and 6% died. Risk factors independently associated with primary NICU admission included antenatal diagnosis of
Down syndrome, presence of CHD, PH, and the need for ventilation.
Conclusions Infants with Down syndrome initially admitted to the postnatal ward have a high likelihood of re-
quiring NICU admission. Overall, high rates of neonatal morbidity were noted, including rates of PH that were higher
than previously reported. Proper screening of all infants with Down syndrome for CHD and PH is recommended to
facilitate timely diagnoses and potentially shorten the duration of the hospital stay. (J Pediatr 2018;193:21-6).

See editorial, p 9 and

related article, p 27

n Ireland, the incidence of Down syndrome is 1 in 444 live births, the highest rate in Europe.1 Down syndrome is associ-

I ated with significant cardiovascular and pulmonary morbidity and mortality in children, including congenital heart disease
(CHD), pulmonary vascular disease, pulmonary hypertension (PH), chronic hypoxemia, and recurrent respiratory illnesses.2-4
Compared with the general population, infants with Down syndrome have an increased propensity to develop severe PH sec-
ondary to CHD or airway obstruction.2,5,6 This type of PH typically develops over time, but newborn infants with Down syn-
drome without CHD also are at increased risk for persistent PH that may be symptomatic after birth.2-4 Although PH in infants
with Down syndrome without CHD has been described in up to 5% of newborn infants,2-4 this condition has not been thor-
oughly investigated, and the advent of a more systematic approach to the diagnosis of PH using objective echocardiography
techniques may reveal a higher incidence in this population.6-8
Currently, infants with confirmed or suspected Down syndrome are encouraged to remain with their mothers on the post-
natal ward to promote early maternal–infant bonding and establishment of feeding, unless critical CHD is suspected or car-
diopulmonary compromise arises.9 The impact of this approach on short-term outcomes is not well-described and warrants
further study. Although the incidence of admission of an infant with Down syndrome to the neonatal intensive care unit (NICU)
at any time point after birth has been reported at 46%,10 the overall incidence of direct NICU admission vs admission to the
NICU from the postnatal ward is unknown.
We hypothesized that infants with a confirmed or suspected diagnosis of Down
syndrome with and without CHD have a high incidence of PH identified on
echocardiography performed in the first 3 days of age that may necessitate NICU From the 1Department of Neonatology, The Rotunda
Hospital; 2Department of Obstetrics and Gynecology,
admission. In this study, we studied the rates of PH, CHD, and other clinically Royal College of Surgeons in Ireland, Dublin, Ireland;
3
Department of Pediatrics, Washington University School
of Medicine, St Louis, MO; 4Goryeb Children’s Hospital,
Atlantic Health System, Morristown, NJ; 5Department of
Pediatric Cardiology, Our Lady’s Children’s Hospital; and
6School of Medicine (Department of Pediatrics), Royal

College of Surgeons in Ireland, Dublin, Ireland

CHD Congenital heart disease
The authors declare no conflicts of interest.
NICU Neonatal intensive care unit
PDA Patent ductus arteriosus 0022-3476/$ - see front matter. © 2017 Elsevier Inc. All rights
PH Pulmonary hypertension reserved.
https://doi.org10.1016/j.jpeds.2017.09.046

21
THE JOURNAL OF PEDIATRICS • www.jpeds.com
relevant comorbidities in a cohort of infants with Down syn-
drome over a 5-year period in a tertiary neonatal center in
Ireland, and described their early management and short-
term outcomes.
Methods
This retrospective study included all infants born with an
antenatally confirmed diagnosis of Down syndrome, or a sus-
pected clinical diagnosis of Down syndrome later confirmed
with karyotyping. The study was conducted over a 5-year period
between January 2011 and June 2016 at the Rotunda Hospi-
tal, Dublin, Ireland. The Rotunda Hospital is a stand-alone ter-
tiary maternity and neonatal center with over 8500 annual
births. The incidence of live births with Down syndrome in
the Rotunda Hospital ranged between 2 to 4 per 1000 over the
last 5 years. Data collection was approved by the Rotunda Hos-
pital Clinical Audit Department.
Maternal and neonatal clinical and demographic data were
collected from the medical records. Antenatal details col-
lected included maternal age and parity at delivery, the pres-
ence of a documented antenatal scan, identified anomalies, and
antenatal testing for Down syndrome. We identified common
morbidities associated with Down syndrome, including the
presence of CHD, PH in infants with CHD, PH in infants
without CHD, gastrointestinal malformations, and hemato-
logical disturbances. The details of each infant’s hospital stay
was collected including initial and subsequent place of ad-
mission (NICU vs postnatal ward), the use of inotropes and
inhaled nitric oxide, first blood gas, full blood count, paren-
teral nutrition, duration of hospital stay, and death before
discharge.
Low oxygen saturation levels as an indication for admis-
sion was defined as persistent pulse oximetry preductal oxygen
saturation levels of 85% or lower for a period of 5 minutes
in the presence of a clear signal while the infant was in a resting
state.
Echocardiography Evaluation
Echocardiography was obtained in all infants with Down syn-
drome during their initial hospital stay before discharge, and
performed using a commercially available ultrasound imaging
system (Vivid S6; GE Medical Systems, Milwaukee, Wiscon-
sin). Two designated trained cardiac sonographers obtained
all echocardiographic images using a phased-array trans-
ducer (7.5-12 MHz).11 The echocardiographic images were ac-
quired using a standardized image acquisition protocol in the
supine position during a restful period without changing the
position of the infant or disturbing the hemodynamic condi-
tion to minimize heart rate and respiratory variation during
image acquisition.8,12
All scans were reviewed by a pediatric cardiologist to iden-
tify the presence of CHD and PH. An atrial septal defect was
defined as an interatrial communication >8 mm in diameter
on echocardiogram and requiring long-term follow up by our
pediatric cardiologist. A patent ductus arteriosus (PDA) was
labeled pathologic if it measured >3 mm with unrestrictive flow.
22
Volume 193 • February 2018
PH was defined as the presence of systemic or suprasystemic
pulmonary pressures occurring beyond the first 24 hours of
age and the presence of one or more of the following: a right-
to-left shunt across the PDA, interventricular septal bowing
into the left ventricle, or the presence of a tricuspid regurgi-
tant jet estimating the right ventricular pressure to be greater
than the systemic systolic pressure.13
Statistical Analyses
Continuous data were presented as medians (IQR) and cat-
egorical data were presented as counts (percentage). Two
group analyses were conducted using Mann-Whitney U tests
or c2/Fisher exact tests as appropriate. The cohort was divide
into 3 groups: (1) infants admitted directly to the NICU
(primary NICU), (2) infants placed with their mothers on
the postnatal ward who were subsequently admitted to the
NICU (NICU after postnatal ward), and (3) infants who
were managed entirely at the mothers’ bedside on the post-
natal ward (postnatal ward only). Three group analyses were
conducted using the Kruskal-Wallis test. Logistic regression
analysis was conducted to assess the independent effect of
relevant variables (gestational age, any CHD, and PH) on the
need for ventilation (first model) and mortality (second model)
in this population. SPSS (IBM, Version 23, Armonk, New
York) was used to conduct the analysis. P < .05 defined sta-
tistical significance.
Results
One hundred twenty-four infants with Down syndrome were
identified during the study period. Complete medical charts
were available for 121 infants who were included in this study.
The median gestational age was 38.3 weeks (IQR, 36.5-39.1)
and the birth weight was 2.94 kg (IQR, 2.57-3.34). There were
62 male infants (51%). Forty-nine infants (41%) were born
by caesarean deliveries with a median maternal age of 37 years
(IQR, 33-39) and parity of 2 (IQR, 1-3). Eleven infants were
born prematurely (less than 37 weeks of gestation) with a ges-
tation of 30.3 weeks (IQR, 28.4-32.2) and birth weight 1.45
kg (IQR, 1.14-1.94).
Thirty-one mothers had a presumed or confirmed antena-
tal diagnosis giving an overall detection rate of 26%. A fetal
ultrasound scan was available for 114 infants (94%), with the
initial scan performed at a gestational age of 13 weeks (IQR,
12-16). Fetal anomalies were identified in 39 infants (32%).
The most common anomaly diagnosed on ultrasound was
atrioventricular septal defect (n = 12), followed by intrauter-
ine growth restriction (n = 8), increased nuchal thickness
(n = 5), and a double gastric bubble (n = 5). Prenatal diag-
nostic testing confirmed the diagnosis of Down syndrome in
56% of this subgroup. Postnatal diagnosis was confirmed in
all cases with karyotype testing.
NICU vs Postnatal Ward Admission
Sixty-seven infants (55%) were admitted directly to the NICU,
including most of the infants with a known antenatal diag-
nosis (n = 28, 90%). The most common reason for primary
Martin et al
February 2018 ORIGINAL ARTICLES

Figure. Breakdown of admission indications. GI, Gastrointestinal.

admission to the NICU was a low oxygen saturation level
(n = 48; 72%) in the delivery room; 25 of these infants had
CHD, 13 infants were admitted due to prematurity (<34 weeks)
or low birth weight (<2000 kg), and 6 had other associated
anomalies (3 with duodenal atresia, 1 omphalocele, 1 hydro-
nephrosis, and 1 with pleural effusions)
Fifty-four infants (45%) were initially cared for on the post-
natal ward, of which 38 (87%) were later transferred to the
NICU. Sixteen infants (13%) remained in the postnatal ward
through discharge; none of those infants required readmis-
sion to our hospital over the subsequent 2-week period. In the
group transferred to the NICU after admission to the post-
natal ward, the age of transfer was at a median of 15 hours
(IQR, 6-72). The most common reason for transfer to the NICU
was also low oxygen saturation levels (n = 22; 58%) followed
by poor feeding (n = 10; 26%), and hypothermia (n = 6; 16%;
Figure). Table I details the clinical characteristics and clini-
cal outcomes of infants in the 3 groups.

Table I. Demographics and morbidities in the 3 admission groups

Primary NICU admission NICU after postnatal ward Postnatal ward care only
(n = 67) (n = 38) (n = 16) P
Gestation (wk) 38.0 [34.4-39.0] 38.5 [37.7-39.1] 38.9 [37.1-39.6] .10
<34 wk 11 (16) 0 0 <.01
Birth weight (kg) 2.9 [2.3-3.4] 2.9 [2.7-3.3] 3.1 [2.7-3.7] .51
Caesarean section 35 (52) 10 (26) 4 (25) .01
Small for gestational age 17 (25) 7 (8) 0 .07
Male gender 29 (43) 23 (61) 10 (63) .15
5 minute Apgar score 9 [8-10] 10 [9-10] 10 [10-10] <.01
Antenatal diagnosis 28 (42) 2 (5) 1 (6) <.01
Any CHD 53 (79) 23 (60) 4 (25) <.01
AVSD 20 (30) 3 (8) 1 (6) <.01
PH 28 (42) 11 (29) 2 (13) .02
GI morbidity 12 (18) 3 (8) 0 .09
Polycythemia 13 (19) 8 (21) NA .14
Jaundice requiring phototherapy 32 (48) 19 (50) 9 (56) .83
Invasive ventilation 24 (36) 5 (13) 0 <.01
Ventilation days 4 [2-9] 4 [3-4] NA .62
O2 days 13 [5-26] 13 [8-16] NA .63
Inotropes 15 (22) 5 (13) 0 .08
Nitric oxide 14 (21) 4 (11) 0 .07
First pH 7.34 [7.28-7.37] 7.36 [7.33-7.38] NA .04
pCO2 (Kpa) 6.0 [5.6-7.0] 5.5 [4.8-6.2] NA <.01
HCO3−(mmol/L) 23.4 [21.0-25.0] 23.1 [21.6-25.0] NA .91
First hemoglobin (g/L) 197 [186-206] 215 [201-208] NA .02
Platelets (103/µL) 151 [100-201] 169 [102-208] NA .39
White blood cells (×109/L) 18.6 [12.9-24.0] 21.1 [16.4-26.7] NA .02
TAM 5 (8) 1 (3) 0 .34
Days on TPN 7 [2-11] 3 [2-11] NA .69
Hospital days 26 [11-47] 26 [19-29] NA .20
Death 7 (10) 0 0 .05

AVSD, Atrioventricular septal defect; GI, gastrointestinal; NA, not applicable; TAM, transient abnormal myelopoiesis; TPN, total parenteral nutrition.
Data are presented as medians [IQR] or count (%) and compared using the Kruskal-Wallis test or c2/Fisher exact test as appropriate.

Infants Born with Down Syndrome: Burden of Disease in the Early Neonatal Period 23
THE JOURNAL OF PEDIATRICS • www.jpeds.com Volume 193

Table II. Clinical outcomes and morbidities in the 3 admission groups

Primary NICU admission NICU after postnatal ward Postnatal ward care only
(n = 67) (n = 38) (n = 16) P
Any CHD 53 (79) 23 (60) 4 (25) <.01
AVSD 20 (30) 3 (8) 1 (6) <.01
PH 28 (42) 11 (29) 2 (13) .02
GI morbidity 12 (18) 3 (8) 0 .09
Polycythemia 13 (19) 8 (21) Not assessed .14
Jaundice requiring phototherapy 32 (48) 19 (50) 9 (56) .83
Invasive ventilation 24 (36) 5 (13) 0 <.01
Ventilation days 4 [2-9] 4 [3-4] 0 .62*
O2 days 13 [5-26] 13 [8-16] 0 .63*
Inotropes 15 (22) 5 (13) 0 .08
Nitric oxide 14 (21) 4 (11) 0 .07
First pH 7.34 [7.28-7.37] 7.36 [7.33-7.38] Not measured .04*
pCO2 (Kpa) 6.0 [5.6-7.0] 5.5 [4.8-6.2] Not measured <.01*
HCO3−(mmol/L) 23.4 [21.0-25.0] 23.1 [21.6-25.0] Not measured .91*
First hemoglobin (g/L) 197 [186-206] 215 [201-208] Not measured .02*
Platelets (103/µL) 151 [100-201] 169 [102-208] Not measured .39*
White blood cells (×109/L) 18.6 [12.9-24.0] 21.1 [16.4-26.7] Not measured .02*
TAM 5 (8) 1 (3) Not assessed .34*
Days on TPN 7 [2-11] 3 [2-11] 0 .69*
Hospital days 26 [11-47] 26 [19-29] 4 [3-5] <.01
Death 7 (10) 0 0 .05

Data are presented as medians [IQR] or count (%) and compared using the Kruskal-Wallis test or c2/Fisher exact test as appropriate.
*Indicates a Mann-Whitney U test was performed to only compare the first 2 groups.

PH and Diagnosis of CHD

Discussion
Eighty infants (66%) had CHD. The most common lesions were
atrioventricular septal defect (n = 24) and atrial septal defect
In this study, 55% of live born neonates with Down syn-
(n = 24), followed by ventricular septal defect (n = 17) and PDA
drome were directly admitted to the NICU after birth; 70%
(n = 9). Four infants had a tetralogy of Fallot and 2 infants had
of infants initially admitted to the postnatal ward were trans-
a coarctation of the aorta. The overall incidence of PH was 34%
ferred to the NICU, for an overall NICU admission rate of 86%.
(41 infants), with no difference between infants with and
The predominant reason for NICU admission was low oxygen
without CHD (P = .47). PH was documented in 28 of 67 infants
saturation values. To date, most research in children with Down
(42%) directly admitted to the NICU, in 11 of 38 (29%) in
syndrome has focused on hospital admissions linked to later
those with later transfer to the NICU, and 2 (13%) of those
adult deaths or infant mortality beyond the transitional birth
cared for only in the postnatal ward.
period.14,15 Mann et al reported that 46% of infants with Down
Infants initially admitted to the NICU were more likely to
syndrome (960/2104) were admitted to the NICU across the
have an antenatal diagnosis of Down syndrome, CHD, or PH;
United Kingdom over a 2-year period from 2009 to 2011.10
require invasive ventilation; or die before discharge (Table II)
Similarly, Pisacane et al observed that 44% of all Italian infants
when compared with infants transferred to the NICU after ad-
with Down syndrome (246/560) were admitted to a NICU in
mission to the postnatal ward or those who were admitted to
2000 and 2001, but these studies do not differentiate the in-
the postnatal ward only. PH was independently associated with
cidence of direct NICU admission after birth vs transfer from
the need for invasive ventilation (adjusted OR, 15; 95% CI, 4-59;
the postnatal ward owing to a change in clinical status.9 In our
P < .01) and independently associated with death before dis-
study, infants with Down syndrome had a high overall rate of
charge when adjusting for gestational age and CHD (ad-
justed OR, 11; 95% CI, 2-110; P < .01). In infants without major
CHD, PH was associated with a longer duration of hospital
stay, increased need for ventilation, and more days of inhaled Table III. Independent effect of PH on important
nitric oxide (Tables II and III). outcomes*
There was a high incidence of structural anomalies and neo-
natal morbidities identified after birth (Table I). Fifteen infants Outcomes b coefficient P
(12%) had gastrointestinal morbidity, including duodenal Duration of hospital stay 7.5 .001
atresia (n = 7), Hirschsprung’s disease (n = 1), and omphalocele Need for ventilation 2.6 <.001
Days on nitric oxide 2.5 <.001
(n = 1). Six infants developed necrotizing enterocolitis. Seven Days on oxygen 5.7 .08
infants died before discharge, for an early mortality rate of 6%. Death before discharge 1.8 .1
The causes of death were hydrops fetalis/chylothorax (n = 3), *Model is adjusted for gestation, premature birth and gastrointestinal morbidity in infants without
hypoxic ischemic encephalopathy (n = 1), severe meconium as- major CHD (atrioventricular septal defect, ventral septal defect, tetralogy of Fallot, coarctation
piration (n = 1), systolic arrest (n = 1), and necrotizing en- of the aorta).
Linear regression was used for duration of hospital stay, days on nitric oxide, and oxygen. Lo-
terocolitis (n = 1). gistic regression was used for need for ventilation and death before discharge.

24 Martin et al
February 2018
admission to NICU in and a high incidence of early PH iden-
tified during the transitional neonatal period when com-
pared with other reports. The presence of PH was associated
with an increased need for NICU admission, ventilation, need
for inhaled nitrous oxide, and death.
The incidence of CHD in this study was 66%, similar to
recent published reports in infants with Down syndrome.2 In
the first week after birth, PH with CHD occurred in 42% of
the infants, whereas PH without CHD occurred in 32%. Rates
of PH were significantly higher than the reported rates of 0.1%-
0.2% in the general population, and higher than previously
reported in infants with Down syndrome.2-4,16
It is well-established that the incidence of CHD increases
from 0.8% in the general population to approximately 40%-
70% in patients with Down syndrome.2 However, the current
Down syndrome health care guidelines published by the Ameri-
can Academy of Pediatrics17 and the Down Syndrome Medical
Interest Group of the United Kingdom and Ireland18 do not
elaborate on the possibility of PH in infants with Down syn-
drome without CHD. In infants without CHD, other authors
have reported the incidence of PH partially based on clinical
examination (ie, the need for ventilation, inhaled nitric oxide
use, and high requirements for supplemental oxygen),2-4 whereas
others only captured infants with Down syndrome admitted
to the NICU. 3,4 The true incidence of Down syndrome-
associated PH is probably underestimated, because these ap-
proaches may miss subclinical cases in infants without apparent
initial cardiorespiratory compromise. Weijerman et al de-
scribed a combined incidence of PH in 5.2% of all live Down
syndrome births (25/482) from the Dutch national registry.2
Shah et al observed a PH incidence in 14% of all infants with
Down syndrome (24/175) admitted to the NICU over a 3-year
period, of which 71% (17/24) had no CHD.3 The higher in-
cidence of PH in the infants with Down syndrome without
CHD in our study compared with rates described in the lit-
erature may be due to the differences in diagnostic criteria for
PH and the cohort of patient with Down syndrome included
in those studies.2-4
We used an objective echocardiographic assessment of PH
based on recently published guidelines,19 allowing for more ac-
curate assessment of PH. The need for early and accurate iden-
tification of PH is highlighted by the potential variable response
to management compared with the general population.20 In
our study, PH was an independent predictor for the need for
invasive ventilation and an independent predictor of death
before discharge when adjusting for gestation and CHD.
Children with Down syndrome have an increased risk of PH.5
Increased fetal lung anti-angiogenic factor expression owing
to trisomy 21 impairs lung vascular growth and signaling and
contributes to the pulmonary vascular phenotype typical in
patients with Down syndrome.21 The impaired vascular en-
dothelial function that is present in this population is associ-
ated with a decrease in endogenous nitric oxide production
and a reduced sensitivity to endogenous nitric oxide,22 further
disrupting vasculogenesis and contributing to the high risk for
PH at birth and persisting during infancy.21 The thinner tunica
media present in infants with Down syndrome renders the pul-
Infants Born with Down Syndrome: Burden of Disease in the Early Neonatal Period
ORIGINAL ARTICLES
monary vessels more vulnerable to the sheer stress damage
caused by increased pulmonary blood flow.5 Infants with Down
syndrome and CHD have exposure to increased left-to-right
shunt flow that can further increase sheer stress on endothe-
lium and induce endothelial dysfunction, followed by irre-
versible remodeling of pulmonary arteries. As a result, infants
with Down syndrome and CHD have a faster progression to
PH when compared with infants with CHD, but without a di-
agnosis of Down syndrome.6
The presence of PH in infants with Down syndrome is as-
sociated with significant morbidity and an increased risk of
mortality. In this study, there was a relatively high rate of early
mortality (6%) and PH was independently associated with mor-
tality. In the longer term, PH can evolve (or worsen) owing
to the susceptibility of infants with Down syndrome to recur-
rent respiratory tract infections, chronic upper and lower ob-
structive airway disease, the persistence of left-to-right shunts
that increase pulmonary blood flow, and neuromuscular un-
derdevelopment.5 Older children with Down syndrome are at
a significantly higher risk of requiring extracorporeal mem-
brane oxygenation owing to respiratory failure than the general
infant population (up to 6-fold), with PH being the leading
cause. Those infants are at a significantly higher risk of death
after extracorporeal membrane oxygenation (35% vs 25%).23
In addition, the mortality rate of critically ill infants and chil-
dren with Down syndrome admitted to pediatric intensive care
is high (40%), and respiratory morbidity associated with PH
is the leading cause.24 The high rate of invasive ventilation and
inhaled nitrous oxide use in our cohort suggests that PH also
can have an immediate impact on the health in newborn infants
with Down syndrome. However, it is worth noting that 2 infants
who received care only in the postnatal ward had a diagnosis
of PH based on our criteria and did not require medical in-
tervention. This highlights the varied clinical phenotype of PH.
Infants with either a confirmed antenatal diagnosis or a
strong clinical suspicion of Down syndrome should undergo
close monitoring during the early neonatal period.17 A balance
should be struck between the promotion of early bonding
between infants and their mothers and the need for early NICU
admission to identify and further diagnose morbidities that
may increase the duration of hospital stay if left untreated. The
relatively high incidence of PH identified in this population
supports the need for early echocardiographic examination to
identify both CHD and elevated pulmonary pressures. A finding
of elevated pulmonary pressures should prompt clinical evalu-
ation for symptoms of PH because some infants may benefit
from the judicious use of supplemental oxygen.
There were some limitations to our study. The number of
mothers who had a confirmed antenatal diagnosis of Down
syndrome and opted for a termination of pregnancy was
unknown and, therefore, the incidence of Down syndrome may
be underestimated. Prenatal screening for Down syndrome is
not routinely offered but is available on an opt-in basis in our
center. In Ireland, where termination of pregnancy is cur-
rently restricted, the prevalence is higher1 than the overall preva-
lence of Down syndrome worldwide (10 per 10 000 live
births).25 Our incidence of CHD may be an overestimate
25
THE JOURNAL OF PEDIATRICS • www.jpeds.com
because we included both atrial septal defects and PDA in our
definition of CHD, and these entities may close spontane-
ously (or reduce in size before discharge). We did not perform
longitudinal echocardiography to assess changes in atrial septal
defects, PDAs, or PH beyond the early neonatal period in this
population. To characterize the evolution of PH in infants with
Down syndrome as well as the impact of PH on respiratory
morbidity and 2-year neurodevelopmental outcome, a pro-
spective study from birth through 24 months of age will
commence in our center and other maternity centers within
Ireland.
This report highlights the need for early screening of all
infants with Down syndrome for the assessment of PH and
other morbidities to determine the need for intensive care treat-
ment. We recommend that this screening should comprise early
and regular preductal and postductal pulse oximetry in addi-
tion to an early echocardiographic examination to docu-
ment PH and CHD. ■
Submitted for publication Jun 22, 2017; last revision received Jul 28, 2017;
accepted Sep 19, 2017
Reprint requests: Afif El-Khuffash, FRCPI, DCE, Department of Neonatology,
The Rotunda Hospital, Parnell St, Dublin 1, Ireland. E-mail: afifelkhuffash@
rcsi.ie
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