Should cell‐free fetal DNA be included in first trimester screening (FTS) for common trisomy? A possible scenario on 6697 women screened over 10 years

Abstract

Public health system would not be able to cover the cost of including cff DNA in women undergoing first trimester screening on universal basis. However, assuming a possible scenario based on implementation of FTS by cff DNA in women at high-risk would result in a 6-fold reduction in the number of invasive procedures while avoiding two false negative results (trisomy 21) that were diagnosed in women with intermediate-risk using current screening strategy by combined test.

Benefits and limitations of prenatal screening for Prader–Willi syndrome

“…A recent review of 6697 women was reported with screening during the first trimester over the past ten years with cell‐free fetal DNA was reported . Fetal aneuploidies are now detected with high precision facilitating a reduction in the number of invasive diagnostic procedures performed .…”

“…87 A recent review of 6697 women was reported with screening during the first trimester over the past ten years with cell-free fetal DNA was reported. 88 Fetal aneuploidies are now detected with high precision facilitating a reduction in the number of invasive diagnostic procedures performed. 84,[89][90][91] The investigators assumed a possible scenario implementing first trimester screening based on identification of high risk prenatal factors such as specific abnormal ultrasound and maternal serum findings and concluded that this new technology may result in a sixfold reduction in the number of invasive procedures.…”