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Article

Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma.

The Journal of clinical endocrinology and metabolism - 1 Jun 2014

New Maria I, Tong Yu K, Yuen Tony, Jiang Peiyong, Pina Christian, Chan K C Allen, Khattab Ahmed, Liao Gary J W, Yau Mabel, Kim Se-Min, Chiu Rossa W K, Sun Li, Zaidi Mone, Lo Y M Dennis

Abstract excerpt

CONTEXT: Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition that arises from mutations in CYP21A2 gene, which encodes for the steroidogenic enzyme 21-hydroxylase. To prevent genital ambiguity in affected female fetuses, prenatal treatment with dexamethasone must begin on or before gestational week 9. Currently used chorionic villus sampling and amniocentesis provide genetic results at...

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Share to Adrenal Hyperplasia, Congenital
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24606108
DOI: 10.1210/jc.2014-1118
PMCID: PMC4037720

Provenance

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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