Key result
Among 377 fetuses with prenatally diagnosed major structural congenital heart disease, 56.8% had isolated defects, 15.4% had extracardiac malformations, and 14.9% had chromosomal abnormalities.
Why the study?
The authors sought to assess the types of prenatally diagnosed congenital heart disease, their association with structural and chromosomal abnormalities, and perinatal outcomes according to heart defect type.
Cohort (n=377)
Prenatal diagnosis of congenital heart disease reveals a high rate of associated chromosomal and extracardiac abnormalities, emphasizing the need for detailed anatomic and genetic evaluation to guide perinatal care.
Supports detailed genetic evaluation in fetal major CHD; leaves open perinatal outcome associations pending prospective data.
We aimed to assess the types of prenatally diagnosed congenital heart disease (CHD) and their association with structural and chromosomal abnormalities and to evaluate the perinatal outcomes according to the type of the heart defect. We retrospectively reviewed 377 pregnancies with prenatally diagnosed CHD. The main outcome measure was to evaluate the pregnancy outcomes of CHD according to the type of the heart defect and associated structural or chromosomal abnormalities. Of 377 foetuses with major structural CHD, 214 (56.8%) were isolated, 49 (13%) had additional cardiac anomalies, 58 (15.4%) had extracardiac malformations with normal karyotype and 56 (14.9%) had chromosomal abnormalities. The most common chromosomal abnormality was trisomy 21 (55.4%). Prenatal detection of CHD allows early workup to identify chromosomal abnormalities and detailed anatomic evaluation of extracardiac malformations. Prognostication of each heart defect at diagnosis and facilitating patients with isolated surgically correctable CHD for targeted postnatal care is essential.IMPACT STATEMENTWhat is already known on this subject? CHD is the most common structural anomaly and is strongly associated with chromosomal anomalies and genetic syndromes.What do the results of this study add? Survival of the prenatally diagnosed CHD depends on the type and severity of the condition and coexisting extracardiac structural or chromosomal abnormalities.What are the implications of these findings for clinical practice and/or further research? Prenatal detection of CHD allows early workup to identify chromosomal abnormalities, detailed anatomic evaluation of extracardiac malformations and time to refer the parents to tertiary cardiac care centres and prepare for planned delivery, as well as to establish an appropriate perinatal and postnatal therapeutic plan.
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Madazlı et al. (2022) conducted a cohort in Prenatally diagnosed congenital heart disease (n=377). Prenatally diagnosed congenital heart disease was evaluated on Pregnancy outcomes of CHD according to the type of the heart defect and associated structural or chromosomal abnormalities. Among 377 fetuses with prenatally diagnosed major structural congenital heart disease, 56.8% had isolated defects, 15.4% had extracardiac malformations, and 14.9% had chromosomal abnormalities.
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