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Article

Non-invasive prenatal diagnosis of monogenic disorders: an optimized protocol using MEMO qPCR with miniSTR as internal control.

Clinical chemistry and laboratory medicine - 1 Feb 2015

Guissart Claire, Debant Vanessa, Desgeorges Marie, Bareil Corinne, Raynal Caroline, Toga Caroline, Pritchard Victoria, Koenig Michel, Claustres Mireille, Vincent Marie-Claire

Abstract excerpt

BACKGROUND: Analysis of circulating cell-free fetal DNA (cffDNA) in maternal plasma is very promising for early diagnosis of monogenic diseases. However, this approach is not yet available for routine use and remains technically challenging because of the low concentration of cffDNA, which is swamped by the overwhelming maternal DNA. METHODS: To make clinical applications more readily accessible, we propose a new...

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PMID: 25274949
DOI: 10.1515/cclm-2014-0501

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