What question did this study set out to answer?

The aim is to evaluate the effectiveness of prenatal whole exome sequencing in diagnosing congenital heart disease.

Application of Prenatal Whole Exome Sequencing for Congenital Heart Anomalies

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Narrative review shows prenatal whole exome sequencing improves diagnosis of congenital heart disease, indicating enhanced genetic understanding.

The aim is to evaluate the effectiveness of prenatal whole exome sequencing in diagnosing congenital heart disease.
Narrative review of 28 studies involving over 2000 fetuses tested with whole exome sequencing.
Comparison of diagnostic yields between whole exome sequencing and conventional methods like chromosomal microarray.
Evaluation of trio-based sequencing effectiveness versus proband-only sequencing.
Whole exome sequencing provided an additional diagnostic yield ranging from 8.0% to 66.7%.
Higher yields were observed in syndromic or non-isolated congenital heart disease cases compared to isolated cases.
Trio-based sequencing improved accuracy and reduced uncertainty of genetic variants compared to proband-only sequencing.

Kamlungkuea et al. (2026) studied this question.

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Narrative review shows prenatal whole exome sequencing improves diagnosis of congenital heart disease, indicating enhanced genetic understanding.