Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications.

ABSTRACT:

Objective

To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES-CNV/SNV) in fetuses with structural anomalies following negative chromosomal microarray analysis (CMA) and karyotyping, and to delineate the practical challenges encountered during its clinical implementation in prenatal settings.

Methods

In this multicenter prospective cohort study (2018-2021), 275 fetuses with structural anomalies were categorized into three groups: sporadic single-system (n = 128), sporadic multisystem (n = 88), and recurrent anomalies (n = 59). Trio-based ES-CNV/SNV analysis was used to identify SNVs, CNVs, or compound heterozygous CNV/SNV combinations- the latter being defined as two dist

SUBMITTER: Jiang Y 

PROVIDER: S-EPMC12819912 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature