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Article

Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes.

American journal of obstetrics and gynecology - 1 Mar 2015

Wapner Ronald J, Babiarz Joshua E, Levy Brynn, Stosic Melissa, Zimmermann Bernhard, Sigurjonsson Styrmir, Wayham Nicholas, Ryan Allison, Banjevic Milena, Lacroute Phil, Hu Jing, Hall Megan P, Demko Zachary, Siddiqui Asim, Rabinowitz Matthew, Gross Susan J, Hill Matthew, Benn Peter

Abstract excerpt

OBJECTIVE: The purpose of this study was to estimate the performance of a single-nucleotide polymorphism (SNP)-based noninvasive prenatal test for 5 microdeletion syndromes. STUDY DESIGN: Four hundred sixty-nine samples (358 plasma samples from pregnant women, 111 artificial plasma mixtures) were amplified with the use of a massively multiplexed polymerase chain reaction, sequenced, and analyzed with the use of...

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Identifiers

PMID: 25479548
DOI: 10.1016/j.ajog.2014.11.041

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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