P723: Contribution of neuromuscular disorders to nonimmune hydrops fetalis diagnosed by exome sequencing: A meta-analysis and systematic literature review

Genetics in Medicine Open 2026 Open access

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Authors: Stephanie M. Rice, Mona M. Makhamreh, Kavya Shivashankar, Leshae A Cenac, Seth I. Berger, Huda B. Al‐Kouatly
DOI: 10.1016/j.gimo.2026.104215
Cited by: 0

Abstract

Neuromuscular disorders (NMD) affect 1 in 3000 live births and are increasingly recognized in association with nonimmune hydrops fetalis (NIHF). Our objective was to assess the monogenic contribution of NMD to NIHF and review the pooled exome sequencing (ES) diagnostic yield of NMD in NIHF.

Fields of Study & Subjects

Genomics and Rare Diseases Prenatal Screening and Diagnostics Connective tissue disorders research

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104215–104215
Publication date
1 January 2026
Language
EN