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Article

Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR.

Clinical chemistry - 1 Feb 2018

Camunas-Soler Joan, Lee Hojae, Hudgins Louanne, Hintz Susan R, Blumenfeld Yair J, El-Sayed Yasser Y, Quake Stephen R

Abstract excerpt

BACKGROUND: Prenatal diagnosis in pregnancies at risk of single-gene disorders is currently performed using invasive methods such as chorionic villus sampling and amniocentesis. This is in contrast with screening for common aneuploidies, for which noninvasive methods with a single maternal blood sample have become standard clinical practice. METHODS: We developed a protocol for noninvasive prenatal diagnosis of...

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Identifiers

PMID: 29097507
DOI: 10.1373/clinchem.2017.278101

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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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