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Article

Clinical experience with a single-nucleotide polymorphism-based non-invasive prenatal test for five clinically significant microdeletions.

Clinical genetics - 1 Feb 2018

Martin K, Iyengar S, Kalyan A, Lan C, Simon A L, Stosic M, Kobara K, Ravi H, Truong T, Ryan A, Demko Z P, Benn P

Abstract excerpt

Single-nucleotide polymorphism (SNP)-based non-invasive prenatal testing (NIPT) can currently predict a subset of submicroscopic abnormalities associated with severe clinical manifestations. We retrospectively analyzed the performance of SNP-based NIPT in 80 449 referrals for 22q11.2 deletion syndrome and 42 326 referrals for 1p36, cri-du-chat, Prader-Willi, and Angelman microdeletion syndromes over a 1-year...

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Identifiers

PMID: 28696552
DOI: 10.1111/cge.13098

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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