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Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact
Author(s) -
Oepkes Dick,
PageChristiaens G. C. Lieve,
Bax Caroline J.,
Bekker Mireille N.,
Bilardo Catia M.,
Boon Elles M. J.,
SchuringBlom G. Heleen,
Coumans Audrey B. C.,
Faas Brigitte H.,
Galjaard RobertJan H.,
Go Attie T.,
Henneman Lidewij,
Macville Merryn V. E.,
Pajkrt Eva,
Suijkerbuijk Ron F.,
Huijsdensvan Amsterdam Karin,
Van Opstal Diane,
Verweij E. J. Joanne,
Weiss Marjan M.,
Sistermans Erik A.
Publication year - 2016
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4945
Subject(s) - medicine , obstetrics , trisomy , gynecology , pregnancy , prenatal diagnosis , false positive paradox , prenatal screening , fetus , genetics , machine learning , computer science , biology
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. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.