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

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 de...

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Bibliographic Details
Published in:Scientific reports 2016-12, Vol.6 (1), p.38359-38359, Article 38359
Main Authors: Sikkema-Raddatz, Birgit, Johansson, Lennart F., de Boer, Eddy N., Boon, Elles M. J., Suijkerbuijk, Ron F., Bouman, Katelijne, Bilardo, Catia M., Swertz, Morris A., Dijkstra, Martijn, van Langen, Irene M., Sinke, Richard J., te Meerman, Gerard J.
Format: Article
Language:English
Subjects:
631/208/514/2254
692/4017
Adult
Age Factors
Amniocentesis
Cell-Free Nucleic Acids - blood
Cell-Free Nucleic Acids - genetics
Decision Making
Deoxyribonucleic acid
DNA
Down syndrome
Down Syndrome - diagnosis
Down Syndrome - genetics
Down Syndrome - pathology
Female
Fetus
Fetuses
Genetic Testing - methods
Genomes
Gestational Age
Humanities and Social Sciences
Humans
Internet
Laboratories
multidisciplinary
Predictive Value of Tests
Pregnancy
Prenatal Diagnosis - methods
Research Design
Risk Assessment
Risk factors
Science
Trisomy
Trisomy - diagnosis
Trisomy - genetics
Trisomy - pathology
Women
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Summary: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. 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.
ISSN:2045-2322
2045-2322
DOI:10.1038/srep38359