NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results

Sci Rep. 2016 Dec 5;6:38359. doi: 10.1038/srep38359.


To properly interpret the result of a pregnant woman's non-invasive prenatal test (NIPT), her a priori risk must be taken into account in order to obtain her personalised a posteriori risk (PPR), which more accurately expresses her true likelihood of carrying a foetus with trisomy. Our aim was to develop a tool for laboratories and clinicians to calculate easily the PPR for genome-wide NIPT results, using diploid samples as a control group. The tool takes the a priori risk and Z-score into account. Foetal DNA percentage and coefficient of variation can be given default settings, but actual values should be used if known. We tested the tool on 209 samples from pregnant women undergoing NIPT. For Z-scores < 5, the PPR is considerably higher at a high a priori risk than at a low a priori risk, for NIPT results with the same Z-score, foetal DNA percentage and coefficient of variation. However, the PPR is effectively independent under all conditions for Z-scores above 6. A high PPR for low a priori risks can only be reached at Z-scores > 5. Our online tool can assist clinicians in understanding NIPT results and conveying their true clinical implication to pregnant women, because the PPR is crucial for individual counselling and decision-making.

MeSH terms

  • Adult
  • Age Factors
  • Amniocentesis
  • Cell-Free Nucleic Acids / blood*
  • Cell-Free Nucleic Acids / genetics
  • Decision Making
  • Down Syndrome / diagnosis*
  • Down Syndrome / genetics
  • Down Syndrome / pathology
  • Female
  • Fetus
  • Genetic Testing / methods*
  • Gestational Age
  • Humans
  • Predictive Value of Tests
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Research Design
  • Risk Assessment
  • Trisomy / diagnosis*
  • Trisomy / genetics
  • Trisomy / pathology


  • Cell-Free Nucleic Acids