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Specifying a Gold Standard for the Validation of Fetal Fraction Estimation in Prenatal Screening.
BACKGROUND: An estimate of fetal fraction (FF) is needed for DNA-based screening for trisomy 21 and other aneuploidies, but there is no gold standard to validate FF measurement methods. We specify a gold standard and use ...
Prenatal maternal plasma DNA screening for cystic fibrosis: A computer modelling study of screening performance.
Background: Prenatal cystic fibrosis (CF) screening is currently based on determining the carrier status of both parents. We propose a new method based only on the analysis of DNA in maternal plasma. Methods: The method ...