P112: Diagnostic utility of validated episignatures for recurrent constellations of embryonic malformations in inpatient settings: A retrospective cohort analysis*

Genetics in Medicine Open 2026 Open access

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Authors: Ryan Monsberger, Kimberly M. Widmeyer, Robert James Hopkin, Diana S. Brightman, Jie Liu, Ethan D. Sperry, Anne Michele Slavotinek, Jacquelynn Berton, Kathryn Nicole Weaver, Amelle Shillington, Olivia Mirabella, Laura Krueger
DOI: 10.1016/j.gimo.2026.103606
Cited by: 0

Abstract

Congenital anomalies arising from disruptions in early embryogenesis, known collectively as recurrent constellations of embryonic malformation (RCEM), represent a significant cause of neonatal morbidity and mortality. Malformation patterns such as VACTERL association, oculo-auriculo-vertebral spectrum (OAVS), and omphalocele- exstrophy- imperforate anus-spina bifida (OEIS), are frequently encountered in neonatal intensive care units. Although these conditions share overlapping developmental pathways, their genetic cause often remains unidentified.

Fields of Study & Subjects

Congenital Anomalies and Fetal Surgery Genomics and Rare Diseases Prenatal Screening and Diagnostics

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103606–103606
Publication date
1 January 2026
Language
EN