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The role of ultrasound in women with a positive NIPT result for trisomy 18 and 13.

Abstract：

OBJECTIVE:The aim of this study was to evaluate the usefulness of ultrasound in pregnancies with a positive non-invasive prenatal testing (NIPT) result for trisomy 18/13. MATERIALS AND METHODS:During a four-year period, the pregnant women who were referred for invasive genetic testing because of positive NIPT results for trisomy 18/13 were included in this study. An in-depth ultrasound was done for these patients before invasive procedures. The data of fetal ultrasound and cytogenetic results were collected. RESULTS:There were 81 patients with a positive NIPT result for trisomy 18/13, including 39 (30 positive for trisomy 18; 9 positive for trisomy 13) within 12-14 weeks of gestation, and 42 (31 positive for trisomy 18; 11 positive for trisomy 13) within 15-22 weeks. The PPV of NIPT was 60.7% for trisomy 18, and 30% for trisomy 13, respectively. When adding ultrasound to NIPT, the new PPV for trisomy 18 was 100%, and the negative predictive value (NPV) was 92.3%, with a NPV of 85.7% in the first trimester and a NPV of 100% in the second trimester, respectively. The new PPV and NPV for trisomy 13 were 100% and 100%, respectively. CONCLUSION:By adding ultrasound to the NIPT, we achieved much higher PPVs and NPVs for trisomy 18/13. A normal scan can help to alleviate stress in parents caused by false positive NIPT results.

journal_name

Taiwan J Obstet Gynecol

journal_title

Taiwanese journal of obstetrics & gynecology

authors

Zhen L,Li YJ,Yang YD,Li DZ

doi

10.1016/j.tjog.2019.09.012

subject

Has Abstract

pub_date

2019-11-01 00:00:00

pages

798-800

issue

6

eissn

1028-4559

issn

1875-6263

pii

S1028-4559(19)30217-7

journal_volume

58

pub_type

杂志文章,多中心研究

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