Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndrome.

doi:10.1016/j.ajog.2022.01.002

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Article

Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndrome.

American journal of obstetrics and gynecology - 1 Jul 2022

Dar Pe'er, Jacobsson Bo, Clifton Rebecca, Egbert Melissa, Malone Fergal, Wapner Ronald J, Roman Ashley S, Khalil Asma, Faro Revital, Madankumar Rajeevi, Edwards Lance, Strong Noel, Haeri Sina, Silver Robert, Vohra Nidhi, Hyett Jon, Demko Zachary, Martin Kimberly, Rabinowitz Matthew, Flood Karen, Carlsson Ylva, Doulaveris Georgios, Daly Sean, Hallingström Maria, MacPherson Cora, Kao Charlly, Hakonarson Hakon, Norton Mary E

Abstract excerpt

BACKGROUND: Historically, prenatal screening has focused primarily on the detection of fetal aneuploidies. Cell-free DNA now enables noninvasive screening for subchromosomal copy number variants, including 22q11.2 deletion syndrome (or DiGeorge syndrome), which is the most common microdeletion and a leading cause of congenital heart defects and neurodevelopmental delay. Although smaller studies have demonstrated...

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Identifiers

PMID: 35033576
DOI: 10.1016/j.ajog.2022.01.002

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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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