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Diagnostic yield of genome sequencing for prenatal diagnosis of fetal structural anomalies

28 Jan 2022

Abstract excerpt

OBJECTIVE: Genome sequencing (GS >30x) is beginning to be adopted as a comprehensive genome-wide test for the diagnosis of rare disease in the post-natal setting. Recent studies demonstrated the utility of exome sequencing (ES) in prenatal diagnosis, we investigate the potential benefits for GS to act as a comprehensive prenatal test for diagnosis of fetal abnormalities. METHODS: We performed GS on a prospective...

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PMID: 35089622
DOI: 10.1002/pd.6108

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