Maternal blood test set to improve trisomy screening

International researchers conducted a cohort study of 3228 women where serum cell-free DNA was analysed before they underwent invasive screening.

The researchers correctly identified 81 cases and one false positive of fetal trisomy 21, giving a sensitivity of 100% and a false positive rate of 0.03%. They also identified 37 of 38 cases and two false positives of fetal trisomy 18, giving a sensitivity of 97.4% and a false positive rate of 0.07%

“This is certainly the way that prenatal screening is moving,” said Dr Andrew McLennan, an obstetrician