This study investigated the effects of fetal fraction (FF) of cell-free fetal DNA on the positive predictive value in non-invasive prenatal testing (NIPT), identified an FF “grey zone” impairing NIPT performance, and developed a predicted model incor
This study investigated the effects of fetal fraction (FF) of cell-free fetal DNA on the positive predictive value in non-invasive prenatal testing (NIPT), identified an FF “grey zone” impairing NIPT performance, and developed a predicted model incorporating FF and z-scores. FF is a key factor affecting the PPV of NIPT, with the "grey zone" of 4.0% – 10.0% imparing z-score performance. Combining FF stratification and z-score enhances risk assessment, optimizing genetic counseling and minimizing invasive testing.
This study investigated the effects of fetal fraction (FF) of cell-free fetal DNA on the positive predictive value in non-invasive prenatal testing (NIPT), identified an FF “grey zone” impairing NIPT performance, and developed a predicted model incorporating FF and z-scores. FF is a key factor affecting the PPV of NIPT, with the "grey zone" of 4.0% – 10.0% imparing z-score performance. Combining FF stratification and z-score enhances risk assessment, optimizing genetic counseling and minimizing invasive testing.
Shenzhen people's hospital