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Article

Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2014

Gu Wei, Koh Winston, Blumenfeld Yair J, El-Sayed Yasser Y, Hudgins Louanne, Hintz Susan R, Quake Stephen R

Abstract excerpt

PURPOSE: Prenatal diagnosis of fetal Mendelian disorders can benefit from noninvasive approaches using fetal cell-free DNA in maternal plasma. Detecting metabolic disorders before birth can result in immediate treatment postpartum in order to optimize outcome. METHODS: We developed a mathematical model and an experimental methodology to analyze the case of a fetus with a 25% risk of inheriting two known mutations...

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Share to Amino Acid Metabolism, Inborn Errors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24406457
DOI: 10.1038/gim.2013.194
PMCID: PMC4079742

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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