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

Rhiannon Mellis,Kathryn Oprych,2 Authors,L. Chitty

2022 · DOI: 10.1002/pd.6115
Prenatal Diagnosis · 142 Citations

TLDR

A systematic review and meta‐analysis was conducted to determine the diagnostic yield of exome sequencing (ES) for prenatal diagnosis of fetal structural anomalies, where karyotype/chromosomal microarray (CMA) is normal.

Abstract

We 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.

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