Abstract
What's already known about this topic? Positive predict value (PPV) is vitally important because it indicates the probability that a positive test result represents a true fetal abnormality. PPV of noninvasive prenatal testing (NIPT) is lower for trisomy 18/13 compared with trisomy 21. What does this study add? In our study cohort of women with a high‐risk noninvasive prenatal testing (NIPT) result and normal nuchal translucency measurement, >90% (32/35) of cases with true fetal trisomy 18/13 had a fetal abnormality on ultrasound, compared with none of the fetuses with confined placental mosaicism and normal amniocentesis result. Detailed sonographic examination of the fetus following a high‐risk NIPT result for trisomy 13/18 is an important component of clinical management and may influence the choice of confirmatory prenatal diagnostic procedure.
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