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

ABSTRACT: 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

SUBMITTER: Sikkema-Raddatz B 

PROVIDER: S-EPMC5137038 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature