Fetal Fraction Signatures: A Quality Control Tool to Detect Potentially Confounding Situations in NonInvasive Prenatal Diagnosis of Monogenic Conditions.

Abstract excerpt

Noninvasive prenatal diagnosis relies on the analysis of the small amount of cell-free fetal DNA circulating in maternal plasma. Widely used to screen for chromosomal anomalies, the technique can also be applied to Mendelian diseases (NIPD-M). However, asserting the presence of a maternal variant in the fetus is challenging and requires the determination of the maternal haplotypes transmitted to the fetus. This...

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