Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I-clinical impact

Dick Oepkes, G. C. (Lieve) Page-Christiaens, Caroline J. Bax, Mireille N. Bekker, Catia M. Bilardo, Elles M. J. Boon, G. Heleen Schuring-Blom, Audrey B. C. Coumans, Brigitte H. Faas, Robert-Jan H. Galjaard, Attie T. Go, Lidewij Henneman, Merryn V. E. Macville, Eva Pajkrt, Ron F. Suijkerbuijk, Karin Huijsdens-van Amsterdam, Diane Van Opstal, E. J. (Joanne) Verweij, Marjan M. Weiss, Erik A. Sistermans*

*Corresponding author for this work

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Abstract

Objective To evaluate the clinical impact of nationwide implementation of genome-wide non-invasive prenatal testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 and 13 (TRIDENT study). Method Women with elevated risk based on first trimester combined testing (FCT >= 1: 200) or medical history, not advanced maternal age alone, were offered NIPT as contingent screening test, performed by Dutch University Medical laboratories. We analyzed uptake, test performance, redraw/failure rate, turn-around time and pregnancy outcome. Results Between 1 April and 1 September 2014, 1413/23 232 (6%) women received a high-risk FCT result. Of these, 1211 (85.7%) chose NIPT. One hundred seventy-nine women had NIPT based on medical history. In total, 1386/1390 (99.7%) women received a result, 6 (0.4%) after redraw. Mean turn-around time was 14 days. Follow-up was available in 1376 (99.0%) pregnancies. NIPT correctly predicted 37/38 (97.4%) trisomies 21, 18 or 13 (29/30, 4/4 and 4/4 respectively); 5/1376 (0.4%) cases proved to be false positives: trisomies 21 (n = 2), 18 (n = 1) and 13 (n = 2). Estimated reduction in invasive testing was 62%. Conclusion Introduction of NIPT in the Dutch National healthcare-funded Prenatal Screening Program resulted in high uptake and a vast reduction of invasive testing. Our study supports offering NIPT to pregnant women at increased risk for fetal trisomy.
Original languageEnglish
Pages (from-to)1083-1090
JournalPrenatal Diagnosis
Volume36
Issue number12
DOIs
Publication statusPublished - Dec 2016

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