Within the last few decades, the prenatal
echocardiographic diagnosis of congenital heart defects has made
substantial progresses, allowing the recognition of virtually almost all
heart malformations between the 16th and 18th week of pregnancy, with a
sensitivity over 96% and a specificity close to 100% [1,2]. It helps in
better understanding of congenital heart defects (CHD), and ensures that
prenatal medical and interventional management is possible and delivery
can be performed safely at a tertiary center. Changlani, et al.
[3], in this issue of Indian Pediatrics, report a systematic
analysis of the infants who had prenatal diagnosis of CHD and delivered
at their tertiary cardiac center where they could be treated
effectively. This study reports the outcomes of 121 infants with
prenatally diagnosed CHD undergoing planned delivery in a cardiac
facility. Twenty-six percent of all screened fetuses were found to have
CHD. This high incidence may be due the referral bias as the fetal
diagnosis was done at a tertiary care center where most of the fetal
echocardiographies were performed after a suspected heart defect or
associated non-cardiac abnormalities.
Since these deliveries were conducted at a tertiary
care center, immediate cardiac intervention was possible ensuring better
neonatal survival. Many a time, it is not possible to deliver such
neonates in tertiary care centers for want of logistics. Some studies
from United Kingdom have reported feasibility of delivering infants with
prenatally diagnosed CHD outside specialized cardiac center and shifting
them to a tertiary care center after initial stabilization [4].
Unfortunately, this is not yet a feasible option in India. We do not
have many specialized centers that can take care of such critically ill
children, stabilize them and transfer to the tertiary center. In
addition, we do not have an organized referral system so that these
infants can reach a proper tertiary care center catering to the
specialized services. We have to rely on tertiary care centers that can
diagnose, deliver, and then treat these children immediately after the
birth, if required urgently. Transport of expectant mother with fetal
cardiac diagnosis seems to be the safest option in this situation.
As rightly pointed out in this study, it is difficult
to get pediatric echocardiography done in a sick neonate, and
consequently there is a delay in starting life saving medications like
prostaglandins. Neonatal transport program for these critically sick
babies is in a very primitive stage. It is very difficult to transport
these sick neonates to a tertiary care center, more so if they are born
preterm, are low birth weight, or are ventilator-dependent. These
children become very sick when they are shifted in a suboptimal state,
and the outcome after cardiac intervention is not always good. As the
pediatric cardiac care requires a state-of-art infrastructure and
expertise from many specialties, the centers are developed only in major
cities and the infants have to be shifted to these centers from
peripheries. Pediatric cardiac care is resource intense and therefore it
is expensive. If the prenatal cardiac diagnosis is not known, it comes
as big shock to the parents. Most of the CHDs do not get covered under
any insurance schemes, and parents have to bear these expenses which is
always not possible for the parents.
In the present study, 20% of infants delivered in the
cardiac facility were offered comfort care. The outcomes in this group
was poor. This highlights the need to diagnose such complex CHDs in an
earlier stage of pregnancy. An earlier diagnosis (<20 weeks) would have
given more options to the expectant family, including consideration for
termination of pregnancy. Some complex heart defects like hypoplastic
left heart syndrome (HLHS) need multistage treatment and a large
proportion may later need heart transplantation. In this situation, if
the heart defect is known in the early prenatal period, parents can have
an option of legal termination. In case the parents decide to continue
the pregnancy after fetal diagnosis of complex CHDs, significantly
improved outcome is expected if delivery occurs at a tertiary care
center. Reduced morbidity and mortality following antenatal diagnosis
has been reported for babies with coarctation of aorta, HLHS and
transposition of aorta [5].
Most of the studies even recommend chromosomal
analysis of all these children diagnosed to have CHD [6]. Knowledge of
fetal karyotype permits well-defined postnatal surgical intervention.
One of the indications of fetal echocardiography is having a previous
child with CHD. In this situation, knowing normal cardiac status of the
fetus has a big emotional impact on the family. In other situations,
knowing an abnormal heart helps to prepare them emotionally.
Diagnosis of prenatal CHD impacts the mode of
delivery and helps delivering these babies safely. There was an
increasing trend towards planned delivery in the present study, which is
expected in the settings of diagnosed CHD in the fetus. In the setting
of significant logistic hurdles for transport and delivering prompt
neonatal cardiac care, prenatal diagnosis is a very effective method in
improving the outcomes of children with complex heart defects [7]. The
strategy of planned delivery in a cardiac facility as reported in this
study potentially overcomes all these logistic difficulties. Planned
delivery also enables the baby and mother to be admitted in the same
facility, offering signifcant pyschological advantage for families.
The prenatal diagnosis of CHD has helped shape our
thinking about the development and natural history of congenital heart
disease. It has affected the clinical outcomes of patients with
congenital heart disease, and has influenced our counselling of
families. A new subspecialty of fetal cardiology has developed with this
diagnostic modality.
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CS, Simpson LL, et al. Prenatal diagnosis of congenital heart
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2. Peake LK, Draper ES, Budd JLS, Field D. Outcomes
when congenital heart disease is diagnosed antenatally versus
postnatally in the UK: A retrospective population-based study. BMC
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Outcomes of infants with prenatally diagnosed congenital heart disease
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Outcome of infants with prenatally diagnosed congenital heart disease
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