Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia

PURPOSE: Prenatal diagnosis of fetal Mendelian disorders can benefit from non-invasive approaches using fetal cell-free DNA in maternal plasma. Detecting metabolic disorders before birth can result in immediate treatment post partum in order to optimize outcome. METHODS: We developed a mathematical...

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Main Authors: Gu, Wei, Koh, Winston, Blumenfeld, Yair J., El-Sayed, Yasser Y., Hudgins, Louanne, Hintz, Susan R., Quake, Stephen R.
Format: Artigo
Sprog:Inglês
Udgivet: 2014
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4079742/
https://ncbi.nlm.nih.gov/pubmed/24406457
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2013.194
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