TL;DR
Prenatal whole-exome sequencing demonstrates high clinical utility in the diagnosis of fetal monogenic disorders and shows the greatest effectiveness in fetuses with structural anomalies and in families at high genetic risk.
To characterize prenatal sonographic features, genomic findings from chromosomal microarray analysis (CMA) and whole‐exome sequencing (WES), pregnancy outcomes, and postnatal manifestations in KBG syndrome and to provide evidence for prenatal diagnosis and genetic counseling in at‐risk pregnancies.
WES is an effective method for identifying the genetic causes of NE, especially in full-term newborns and in combination with congenital malformations, especially in full-term newborns and in combination with congenital malformations.
Ultrasound findings suggest that genetic risk varies by CHD type, complexity, and extracardiac anomalies, which may inform more precise prenatal genetic risk stratification.
ES and GS in NIHF significantly reduce the number of unexplained cases and guide clinical management and recurrence risks, and the incremental diagnostic yield of GS over ES in NIHF remains under investigation.
WES effectively detects multiple variant types providing crucial insights for precise diagnosis, management, and genetic counseling in children with complex phenotypes, providing crucial insights for precise diagnosis, management, and genetic counseling in children with complex phenotypes.
Findings support the diagnostic value of genomic testing in selected symptomatic neonates and young infants, while the small, heterogeneous cohort, sequential non-equivalent workflows, and incomplete outcome data preclude conclusions about comparative WES/WGS performance or population newborn screening.
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