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

an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results
Authors: Sikkema-Raddatz, Birgit; Johansson, Lennart F.; De Boer, Eddy N.; Boon, Elles M.J.; Suijkerbuijk, Ron F.; Bouman, Katelijne; Bilardo, Catia M.; +5 Authors

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

Abstract

AbstractTo 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.

Country
Netherlands
Keywords

Adult, BLOOD, Decision Making, Gestational Age, Trisomy, DIAGNOSIS, Risk Assessment, Article, Fetus, Predictive Value of Tests, Pregnancy, Prenatal Diagnosis, TRISOMIES 21, PREGNANCIES, Humans, Genetic Testing, MATERNAL PLASMA, RISK, ANEUPLOIDY, Age Factors, Research Design, CELL-FREE DNA, Amniocentesis, EXPERIENCE, Female, Down Syndrome, FETAL CHROMOSOMAL-ABNORMALITIES, Cell-Free Nucleic Acids

  • BIP!
    Impact byBIP!
    selected citations
    These citations are derived from selected sources.
    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    10
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    Top 10%
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    Average
    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    Average
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
10
Top 10%
Average
Average
Green
gold