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The role of ultrasound in the choice between chorionic villus sampling and amniocentesis for patients with a positive NIPT result for trisomy 18/13
Author(s) -
Zhen Li,
Yang YanDong,
Li YuJuan,
Xu LiLi,
Li DongZhi
Publication year - 2019
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5524
Subject(s) - amniocentesis , chorionic villus sampling , trisomy , obstetrics , medicine , prenatal diagnosis , fetus , abnormality , gynecology , aneuploidy , pregnancy , chromosome , biology , genetics , psychiatry , gene
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.