OBJECTIVE: We sought to assess performance of noninvasive prenatal testing for fetal trisomy in a routinely screened first-trimester pregnancy population. STUDY DESIGN: This was a cohort study of 2049 pregnant women undergoing routine screening for aneuploidies at 11-13 weeks' gestation. Plasma cell-free DNA analysis using chromosome-selective sequencing was used. Laboratory testing on a single plasma sample of 2 mL was carried out blindly and results were provided as risk score (%) for trisomies 21 and 18. RESULTS: Trisomy risk scores were given for 95.1% (1949 of 2049) of cases including all 8 with trisomy 21 and 2 of the 3 with trisomy 18. The trisomy risk score was >99% in the 8 cases of trisomy 21 and 2 of trisomy 18 and <1% in 99.9% (1937 of 1939) of euploid cases. CONCLUSION: Noninvasive prenatal testing using chromosome-selective sequencing in a routinely screened population identified trisomies 21 and 18 with a false-positive rate of 0.1%.
OBJECTIVE: We sought to assess performance of noninvasive prenatal testing for fetal trisomy in a routinely screened first-trimester pregnancy population. STUDY DESIGN: This was a cohort study of 2049 pregnant women undergoing routine screening for aneuploidies at 11-13 weeks' gestation. Plasma cell-free DNA analysis using chromosome-selective sequencing was used. Laboratory testing on a single plasma sample of 2 mL was carried out blindly and results were provided as risk score (%) for trisomies 21 and 18. RESULTS: Trisomy risk scores were given for 95.1% (1949 of 2049) of cases including all 8 with trisomy 21 and 2 of the 3 with trisomy 18. The trisomy risk score was >99% in the 8 cases of trisomy 21 and 2 of trisomy 18 and <1% in 99.9% (1937 of 1939) of euploid cases. CONCLUSION: Noninvasive prenatal testing using chromosome-selective sequencing in a routinely screened population identified trisomies 21 and 18 with a false-positive rate of 0.1%.
Authors: Christopher Douville; Joshua D Cohen; Janine Ptak; Maria Popoli; Joy Schaefer; Natalie Silliman; Lisa Dobbyn; Robert E Schoen; Jeanne Tie; Peter Gibbs; Michael Goggins; Christopher L Wolfgang; Tian-Li Wang; Ie-Ming Shih; Rachel Karchin; Anne Marie Lennon; Ralph H Hruban; Cristian Tomasetti; Chetan Bettegowda; Kenneth W Kinzler; Nickolas Papadopoulos; Bert Vogelstein Journal: Proc Natl Acad Sci U S A Date: 2020-02-19 Impact factor: 11.205
Authors: Baran Bayindir; Luc Dehaspe; Nathalie Brison; Paul Brady; Simon Ardui; Molka Kammoun; Lars Van der Veken; Klaske Lichtenbelt; Kris Van den Bogaert; Jeroen Van Houdt; Hilde Peeters; Hilde Van Esch; Thomy de Ravel; Eric Legius; Koen Devriendt; Joris R Vermeesch Journal: Eur J Hum Genet Date: 2015-01-14 Impact factor: 4.246
Authors: M A Allyse; L C Sayres; M Havard; J S King; H T Greely; L Hudgins; J Taylor; M E Norton; M K Cho; D Magnus; K E Ormond Journal: Prenat Diagn Date: 2013-05-21 Impact factor: 3.050