P748: Diagnostic yield and clinical utility of exome sequencing with copy number analysis in adverse fetal outcomes: A retrospective case series

Genetics in Medicine Open 2026 Open access

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Authors: Sophia M. Adelson, Sarah Banerji, Carly M. Smith, Kevin Tran, Svetlana A. Yatsenko, Ruth Bunker Lathi, Dena R. Matalon, Christina G. Tise
DOI: 10.1016/j.gimo.2026.104240
Cited by: 0

Abstract

The availability and accessibility of comprehensive genomic testing vary greatly for individuals who experience fetal congenital anomalies or unexpected pregnancy losses, often leaving critical questions about etiology, recurrence risk, and future reproductive planning unresolved. To address this gap, we conducted a retrospective case series assessing the diagnostic yield and clinical utility of exome sequencing (ES) with copy-number variant (CNV) analysis in pregnancies with adverse outcomes, including spontaneous pregnancy loss, congenital anomalies, and stillbirth.

Fields of Study & Subjects

Prenatal Screening and Diagnostics Genomics and Rare Diseases Genomic variations and chromosomal abnormalities

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104240–104240
Publication date
1 January 2026
Language
EN