Clinical application of non-invasive prenatal testing for twin pregnancies
10.3760/cma.j.cn511374-20230505-00263
- VernacularTitle:无创产前检测在双胎妊娠中的临床应用
- Author:
Jing WANG
1
;
Xueyan WANG
;
Xiao SONG
;
Ping ZUO
;
Shengfang QIN
;
Na XI
;
Chun CHEN
Author Information
1. 四川省妇幼保健院医学遗传与产前诊断科，成都 610045
- Keywords:
Non-invasive prenatal testing;
Twin pregnancy;
Chromosome aneuploidy;
Trisomy 21;
Sex chromosomal aneuploidy
- From:
Chinese Journal of Medical Genetics
2024;41(1):14-19
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To evaluate the feasibility of non-invasive prenatal testing (NIPT) for the screening of fetal chromosome aneuploidies in twin pregnancies.Methods:A total of 2 745 women with twin-pregnancies were subjected for NIPT screening. Chromosomal karyotyping and chromosomal microarray analysis (CMA) were carried out on amniotic fluid samples from those with a high risk for fetal chromosome aneuploidies, and the diagnosis and pregnancy outcome were followed up. The sensitivity, specificity, positive predictive value and false positive rate of the NIPT were calculated.Results:Compared with other chromosomal abnormalities, NIPT had a higher efficacy for trisomy 21 and sex chromosomal aneuploidy (SCA) in twin pregnancies (with sensitivity being 100%, 100%, and specificity being 99.93%, 99.9%, respectively). It is difficult to evaluate the efficacy for trisomies 18 and 13 due to the limited data. For chromosome microdeletions and microduplications spanning 15 ~ 21 Mb, NIPT also had a certain detection rate. Compared with women with natural conception, NIPT had a higher detection rate for those with twin pregnancies by assisted reproduction ( P < 0.05). Conclusion:It is feasible to use NIPT for the detection of chromosome aneuploidies in women with twin pregnancies.
