Articles with "monogenic" as a keyword



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cfDNA screening and diagnosis of monogenic disorders – where are we heading?

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Published in 2018 at "Prenatal Diagnosis"

DOI: 10.1002/pd.5207

Abstract: Cell‐free fetal DNA analysis for non‐invasive prenatal screening of fetal chromosomal aneuploidy has been widely adopted for clinical use. Fetal monogenic diseases have also been shown to be amenable to non‐invasive detection by maternal plasma… read more here.

Keywords: monogenic; maternal plasma; dna; diagnosis ... See more keywords