Detection Rates for Aneuploidy by First-Trimester and Sequential Screening

Obstetrics and Gynecology
Rebecca J BaerRobert J Currier

Abstract

To estimate detection rates for aneuploidy by first-trimester and sequential screening. The study included women with singleton pregnancies who participated in the California Prenatal Screening Program with estimated delivery dates from August 2009 to December 2012 who had first- or first- and second-trimester (sequential) screening. Detection rates were measured for target (trisomies 21 and 18) and other aneuploidies identified from the California Chromosome Defect Registry. Of 452,901 women screened, 17,435 (3.8%) were screen-positive for Down syndrome only; 433 (0.1%) for trisomy 18 only; 1,689 (0.4%) for both Down syndrome and trisomy 18; and 2,947 (0.7%) for neural tube defects, Smith-Lemli-Opitz syndrome, or for multiple conditions. The detection rates were Down syndrome-92.9% (95% confidence interval [CI] 91.4-94.2); trisomy 18-93.2% (95% CI 90.5-95.9); trisomy 13-80.4% (95% CI 73.9-86.9); 45,X-80.1% (95% CI 73.9-86.3), and triploidy-91.0% (95% CI 84.2-97.9). Overall, the detection rate for chromosome abnormalities was 81.6% (95% CI 80.0-83.1) at an overall false-positive rate of 4.5%. First-trimester and sequential screening are sensitive and specific for the broad range of karyotype abnormalities seen in the population...Continue Reading

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Citations

Dec 29, 2015·American Journal of Obstetrics and Gynecology·Mary E NortonRobert J Currier
May 29, 2016·Clinics in Laboratory Medicine·Renée L Chard, Mary E Norton
Apr 20, 2016·American Journal of Obstetrics and Gynecology·Peter BennEugene Pergament
Oct 16, 2016·American Journal of Medical Genetics. Part a·Melissa BorelliLaura L Jelliffe-Pawlowski
Oct 30, 2016·American Journal of Obstetrics and Gynecology·Glenn E PalomakiJames E Haddow
Oct 30, 2016·American Journal of Obstetrics and Gynecology·Mary E Norton, Miriam Kuppermann
Jun 9, 2016·Obstetrics and Gynecology·Jodi S Dashe
Oct 22, 2019·Birth Defects Research·Nevena Krstić, Sarah G Običan
Sep 27, 2016·Obstetrics & Gynecology Science·Soo Yeon ParkMi Hye Park
Aug 17, 2016·Obstetrical & Gynecological Survey·Matthew R GraceJeffrey A Kuller
Dec 9, 2016·Journal of Perinatology : Official Journal of the California Perinatal Association·R J BaerL L Jelliffe-Pawlowski
Nov 26, 2020·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Antonin SipekPavel Calda
May 14, 2021·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Yiming ChenWensheng Hu

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