Efficacy of noninvasive prenatal testing in fetal chromosome aneuploidy in cautious population
10.3760/cma.j.cn101441-20220218-00070
- VernacularTitle:无创产前检测在慎用人群胎儿染色体非整倍体中的效能分析
- Author:
Na LI
1
;
Duan JU
1
;
Xiuyan WANG
1
;
Chunya ZHAI
1
;
Yingxia LONG
1
;
Yanhong MA
1
;
Qiuxia WANG
1
;
Ying ZHANG
1
;
Bibo YUAN
1
;
Xiaozhou LI
1
Author Information
1. 天津医科大学总医院妇产科 天津市女性生殖健康与优生重点实验室，天津 300052
- Publication Type:Journal Article
- Keywords:
Noninvasive prenatal testing;
Serological screening;
Advanced maternal age;
Fertilization in vitro;
Embryo transfer;
Twin pregnancy
- From:
Chinese Journal of Reproduction and Contraception
2023;43(7):697-702
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the application value of noninvasive prenatal testing (NIPT) in screening fetal chromosome aneuploidy in cautious population.Methods:The data of 19 590 pregnant women who voluntarily received NIPT in the Department of Gynecology and Obstetrics, General Hospital of Tianjin Medical University from October 2016 to June 2020 were retrospectively analyzed. The patients were divided into groups according to age, type of pregnancy and number of fetuses. The screening efficiency of NIPT was compared among different groups. Meanwhile, the screening efficacy of second trimester serum screening (STSS), STSS combined with NIPT and direct NIPT screening was compared and analyzed.Results:The positive predictive values of NIPT for trisomy 21, trisomy 18 and trisomy 13 were 87.18%, 54.84% and 41.18%, respectively. In pregnant women with advanced age (≥35 years old), in vitro fertilization and embryo transfer (IVF-ET) and twin pregnancy, NIPT sensitivity was all 100%, specificity was 99.79%, 99.82% and 100%, positive predictive value was 85.25%, 50.00% and 100%, respectively. The positive predictive value of ≥35 years old patients was significantly higher than that of <35 years old patients (61.54%, P=0.003), and the other indicators were similar to those of the young (<35 years old), conceived naturally and singleton group (all P>0.05). Compared with STSS, combined screening and direct NIPT screening had higher positive predictive value (1.20%, 68.75%, 73.74%; all P<0.001) and lower false positive rate (27.83%, 0.19%, 0.17%; all P<0.001). Conclusion:NIPT has high sensitivity, specificity and positive predictive value for fetal chromosome aneuploidy screening in pregnant women with advanced age, STSS high risk, IVF-ET and twin pregnancy, which greatly relieves the pressure of prenatal diagnosis and reduces the birth rates of children with chromosome disease.
