Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population.

Kypros H Nicolaides, Argyro Syngelaki, Ghalia Ashoor, Cahit Birdir, Gisele Touzet

Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, King's College, London, England, UK.

American journal of obstetrics and gynecology 2012 Nov

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We sought to assess performance of noninvasive prenatal testing for fetal trisomy in a routinely screened first-trimester pregnancy population. 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. 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. 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%. Copyright © 2012 Mosby, Inc. All rights reserved.

Citation

Kypros H Nicolaides, Argyro Syngelaki, Ghalia Ashoor, Cahit Birdir, Gisele Touzet. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. American journal of obstetrics and gynecology. 2012 Nov;207(5):374.e1-6