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Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing

9 Sept 2024

Abstract excerpt

BACKGROUND: Whole exome sequencing (WES) has been recommended to investigate the genetic cause of fetal structural anomalies. In this retrospective study, we aimed to evaluate the diagnostic yield of WES in our cohort of families with pregnancy loss or termination of pregnancy due to structural anomalies. METHODS: As aneuploidy, triploidy and copy number variations (CNVs) could be detected by exome-based CNV...

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PMID: 39252126
DOI: 10.1186/s13023-024-03340-5

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