P652: Utility of SNP chromosomal microarray in neonatal testing

Genetics in Medicine Open 2026 Open access

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Authors: Isabel Ganzert, Kristen L. Deak, Ludmila Francescatto, Sarah Rapisardo, Catherine Weaver Rehder, Stefan Rentas, Jennifer L. Cohen
DOI: 10.1016/j.gimo.2026.104142
Cited by: 0

Abstract

In the neonatal setting, SNV chromosomal microarray (SNV CMA) remains an early genetic test ordered for newborns with congenital anomalies and syndromic features. SNV CMA is a diagnostic tool for detecting chromosomal and segmental deletions, duplications, regions of homozygosity, and uniparental disomy. Furthermore, due to frequency of testing in the Molecular Pathology, Genetics and Genomics/Cytogenetics clinical laboratory at Duke University Health System (DUHS), results of SNV CMA are rapidly available, which can inform neonatal care or indicate the need for additional testing.

Fields of Study & Subjects

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

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104142–104142
Publication date
1 January 2026
Language
EN