TY - JOUR
T1 - Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I-clinical impact
AU - Oepkes, Dick
AU - Page-Christiaens, G. C. (Lieve)
AU - Bax, Caroline J.
AU - Bekker, Mireille N.
AU - Bilardo, Catia M.
AU - Boon, Elles M. J.
AU - Schuring-Blom, G. Heleen
AU - Coumans, Audrey B. C.
AU - Faas, Brigitte H.
AU - Galjaard, Robert-Jan H.
AU - Go, Attie T.
AU - Henneman, Lidewij
AU - Macville, Merryn V. E.
AU - Pajkrt, Eva
AU - Suijkerbuijk, Ron F.
AU - Huijsdens-van Amsterdam, Karin
AU - Van Opstal, Diane
AU - Verweij, E. J. (Joanne)
AU - Weiss, Marjan M.
AU - Sistermans, Erik A.
PY - 2016/12
Y1 - 2016/12
N2 - 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.
AB - 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.
U2 - 10.1002/pd.4945
DO - 10.1002/pd.4945
M3 - Article
C2 - 27750376
SN - 0197-3851
VL - 36
SP - 1083
EP - 1090
JO - Prenatal Diagnosis
JF - Prenatal Diagnosis
IS - 12
ER -