First trimester screening for common trisomies and microdeletion 22q11.2 syndrome using cell-free DNA: A prospective clinical study
Fetal Diagnosis and Therapy Sep 06, 2020
Kagan KO, Hoopmann M, Pfaff T, et al. - In this prospective study performed at the Prenatal Medicine Department of the University of Tübingen, Germany, at 11–13 weeks, researchers investigated the false-positive and uninformative test rate with first trimester cell-free DNA (cfDNA) screening for common trisomies and microdeletion 22q11.2 (22q11.2DS). Further, they examined women’s attitudes toward such an approach. They included a total of 1,127 pregnancies in the final analysis. Observations suggest feasibility of adding 22q11.2DS in first trimester cfDNA screening for common trisomies. For common trisomies and 22q11.2DS, the uninformative test rate of 0.9%, and for 22q11.2DS, the false-positive rate of 0.3%, were observed. Based on observations, they emphasize improving awareness and education around 22q11.2DS.
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