Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing. Part I-clinical Impact

Prenat Diagn. 2016 Dec;36(12):1083-1090. doi: 10.1002/pd.4945. Epub 2016 Nov 15.

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. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.

MeSH terms

  • Adult
  • Chromosome Disorders / diagnosis*
  • Chromosomes, Human, Pair 13
  • Chromosomes, Human, Pair 18
  • DNA / blood*
  • Down Syndrome / diagnosis
  • False Negative Reactions
  • False Positive Reactions
  • Female
  • Follow-Up Studies
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Netherlands
  • Nuchal Translucency Measurement
  • Pregnancy
  • Pregnancy Trimester, First
  • Sequence Analysis, DNA / methods*
  • Time Factors
  • Trisomy / diagnosis
  • Trisomy 13 Syndrome
  • Trisomy 18 Syndrome
  • Ultrasonography, Prenatal

Substances

  • DNA