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Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage.

Clinical genetics - 1 Nov 2023

Fokstuen Siv, Quteineh Lina, Schwitzgebel Valérie M, Köhler-Ballan Bettina, Blouin Jean-Louis, Abramowicz Marc, Nouspikel Thierry

Abstract excerpt

Noninvasive prenatal diagnosis relies on the presence in maternal blood of circulating cell-free fetal DNA released by apoptotic trophoblast cells. Widely used for aneuploidy screening, it can also be applied to monogenic diseases (NIPD-M) in case of known parental mutations. Due to the confounding effect of maternal DNA, detection of maternal or biparental mutations requires relative haplotype dosage (RHDO), a...

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PMID: 37434539
DOI: 10.1111/cge.14399

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