Prenatal Diagnosis of Fetal Malformations by Ultrasound

Fetal fraction‐based risk algorithm for non‐invasive prenatal testing: screening for trisomies 13 and 18 and triploidy in women with low cell‐free fetal DNA

“…In this study, we found an over‐representation of chromosomal abnormalities associated with low FF and pregnancy loss, but not trisomy 21 or monosomy X. Given the high rate of fetal loss observed among cases receiving high FFBR scores, and the fact that most cases of trisomy 13, trisomy 18 and triploidy can be detected by ultrasound examination, clinical management of women receiving high FFBR scores should include confirmation of fetal viability and GA, genetic counseling, anatomy scan and the offer of diagnostic testing. These results also suggest that care plans take into consideration the residual risk for pregnancy loss.…”