title: 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, 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.
authors.affiliation: University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.
authors.forename: Birgit
authors.initials: B
authors.lastname: Sikkema-Raddatz
authors.affiliation: University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.|University of Groningen, University Medical Centre Groningen, Genomics Coordination Centre, Department of Genetics, Groningen, the Netherlands.
authors.forename: Lennart F
authors.initials: LF
authors.lastname: Johansson
authors.affiliation: University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.
authors.forename: Eddy N
authors.initials: EN
authors.lastname: de Boer
authors.affiliation: Department of Clinical Genetics, Laboratory for Diagnostic Genome Analysis, Leiden University Medical Centre, Leiden, the Netherlands.
authors.forename: Elles M J
authors.initials: EM
authors.lastname: Boon
authors.affiliation: University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.
authors.forename: Ron F
authors.initials: RF
authors.lastname: Suijkerbuijk
authors.affiliation: University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.
authors.forename: Katelijne
authors.initials: K
authors.lastname: Bouman
authors.affiliation: University of Groningen, University Medical Centre Groningen, Department of Obstetrics and Gynaecology, Groningen, the Netherlands.
authors.forename: Catia M
authors.initials: CM
authors.lastname: Bilardo
authors.affiliation: University of Groningen, University Medical Centre Groningen, Genomics Coordination Centre, Department of Genetics, Groningen, the Netherlands.
authors.forename: Morris A
authors.initials: MA
authors.lastname: Swertz
authors.affiliation: University of Groningen, University Medical Centre Groningen, Genomics Coordination Centre, Department of Genetics, Groningen, the Netherlands.
authors.forename: Martijn
authors.initials: M
authors.lastname: Dijkstra
authors.affiliation: University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.
authors.forename: Irene M
authors.initials: IM
authors.lastname: van Langen
authors.affiliation: University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Sinke
authors.affiliation: University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.
authors.forename: Gerard J
authors.initials: GJ
authors.lastname: Te Meerman
mesh_terms: D000328:Adult; D000367:Age Factors; D000649:Amniocentesis; D000073888:Cell-Free Nucleic Acids / Q000097:blood* / Q000235:genetics; D003657:Decision Making; D004314:Down Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005260:Female; D005333:Fetus; D005820:Genetic Testing / Q000379:methods*; D005865:Gestational Age; D006801:Humans; D011237:Predictive Value of Tests; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012107:Research Design; D018570:Risk Assessment; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology
chemical_list: D000073888:Cell-Free Nucleic Acids