Implementing NIPT as part of a national prenatal screening program: The Dutch TRIDENT studies

Robert-Jan Galjaard, Lidewij Henneman, Merryn Macville, Caroline Bax, Mireille N. Bekker, Christine De Die-Smulders, Ilse Feenstra, Mariette Hoffer, Nicolette Den Hollander, Maarten F.C.M. Knapen, Irene Van Langen, Klaske Lichtenbelt, Paola Lombardi, Merel Van Maarle, Karuna Van Der Meij, Mijntje Pieters, Heleen Schuring-Blom, Esther Sikkel, Servi Stevens, Ron SuijkerbuijkJeanine Van Der Ven, Diane Van Opstal, Janneke Weiss, Erik Sistermans

Research output: Contribution to journalMeeting AbstractAcademic

Abstract

Objectives: In most countries, non-invasive prenatal testing (NIPT) has been introduced commercially without any governmental guidance. In the Netherlands, prenatal screening for fetal anomaly is subject to a governmental license. NIPT has been implemented as part of the TRIDENT studies (Trial by Dutch laboratories for Evaluation of NIPT). TRIDENT-2 aims at offering NIPT to all pregnant women (∼174,000 women/year) within the national prenatal screening program. Since April 2017, women can choose NIPT as a contingent test after first-trimester combined testing (FCT), but may also choose NIPT as first-tier screening test. TheTRIDENT studies evaluate implementation and women's perspectives. Methods: All pregnant women in the Netherlands are offered prenatal screening and are counselled by certified counselors, generally midwives. A first-tier NIPT costs women € 175, comparable to the costs of FCT (∼€ 168). NIPT is performed by three Dutch university clinical genetic laboratories using an in-house validated test. Women can choose to have analysis of chromosomes 21, 18, and 13 without or with a report of incidental findings (findings other than trisomy 21, 13, 18) on the remaining autosomes, respectively, using the 'targeted' or 'whole genome' WISECONDOR pipeline. Sex chromosomes are not analyzed. Results: After 8 months of study, 48,234 tests have been performed (nationwide uptake of prenatal screening by NIPT as first-tier test was 40%), and 98.3% reports successfully issued. Failure rate was less than 2%. Mean turnaround time was 7 working days. 80% of women chose to have all autosomes analyzed. A total of 152 cases of T21 (0.3%), 32 cases of T18 (0.1%), 41 cases of T13 (0.1%), and 158 (0.3%) other chromosomal aberrations were found. First year results (and available follow-up) will be presented at the meeting. Conclusions: The Netherlands are the first country where NIPT is incorporated as a first-line test into a governmentally supported and health care funded prenatal aneuploidy screening program. The incorporation of the test in a university hospital laboratory and clinical service guarantees appropriate counselling and allows for proper follow-up. This 3-year study aims to provide all necessary information for a successful introduction of NIPT within the Dutch National prenatal screening program.
Original languageEnglish
Article number2-3
Pages (from-to)8-8
Number of pages1
JournalPrenatal Diagnosis
Volume38
Issue numberSuppl.1
DOIs
Publication statusPublished - 1-Oct-2018
EventISPD 22nd International Conference on Prenatal Diagnosis and Therapy - Antwerp, Belgium
Duration: 8-Jul-201811-Jul-2018

Keywords

  • adult
  • aneuploidy
  • autosome
  • conference abstract
  • counseling
  • counselor
  • female
  • fetus malformation
  • first trimester pregnancy
  • follow up
  • genome
  • human
  • incidental finding
  • major clinical study
  • midwife
  • Netherlands
  • pipeline
  • pregnant woman
  • prenatal screening
  • screening test
  • sex chromosome
  • trisomy 21
  • turnaround time
  • university hospital

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