Analysis of non-invasive prenatal testing in 14 047 cases of advanced age pregnant women.
10.3760/cma.j.issn.1003-9406.2020.06.004
- Author:
Zhaie LU
1
;
Liyun TIAN
;
Hongjun YING
;
Fang HUANG
Author Information
1. Ningbo Women and Children's Hospital, Ningbo, Zhejiang 315012, China. eelu98@163.com.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(6):613-616
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To assess the value of non-invasive prenatal testing (NIPT) for the diagnosis of fetal chromosomal aneuploidies among women with advanced gestational age.
METHODS:14 047 pregnant women have voluntarily accepted the NIPT test. The results of NIPT and amniocytic karyotyping analysis were compared, and the outcome of pregnancy was followed up.
RESULTS:NIPT has identified 104 cases with a high risk for trisomies 21, 18 and 13, and 44 cases with a high risk for sex chromosome abnormalities. After genetic consultation, 87 of 104 cases have accepted amniocyte chromosomal karyotyping. 63 cases of fetal chromosome abnormality were confirmed, including 46 cases of 21 trisomy, 11 cases of 18 trisomy and 6 cases of 13 trisomy. The positive predictive value was 83.64% (46/55), 61.11% (11/18), and 42.86% (6/14), the specificity was 99.93%, 99.95%, 99.94%, and the sensitivity was 100%. Among the 44 cases, 34 received amniocytic chromosomal karyotyping analysis, 11 cases were confirmed, the positive predictive value was only 32.35%. No aneuploidy was found in the low-risk cases. The negative predictive value was 100%.
CONCLUSION:As a prenatal screening method for women with advanced gestational age, NIPT has the highest positive predictive value for trisomy 21 and trisomy 18, but a lower positive predictive value for sex chromosome abnormalities. NIPT has a very low rate of missed diagnosis of trisomies 21, 18 and 13, which can significantly reduce the number of women undergoing invasive prenatal diagnosis.
