09May 2022
Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta‐analysis

Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta‐analysis

The study conducted a systematic review and meta‐analysis to determine the diagnostic yield of exome sequencing (ES) for prenatal diagnosis of fetal structural anomalies, where karyotype/chromosomal microarray (CMA) is normal. The study included studies with ≥10 structurally abnormal fetuses undergoing ES or whole-genome sequencing after electronic searches of four databases. The incremental diagnostic yield of ES over CMA/karyotype was calculated and pooled in a meta‐analysis. In addition, sub-group analyses investigated the effects of case selection and fetal phenotype on diagnostic yield. Prenatal ES provides a diagnosis in an additional 31% of structurally abnormal fetuses when CMA/karyotype is non‐diagnostic. The expected diagnostic yield depends on the body system(s) affected and can be optimised by pre-selecting cases following a multi‐disciplinary review to determine that a monogenic cause is likely.

  • #gynaecology - ivf

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