Clinical application of non-invasive prenatal testing for twin pregnancies.
10.3760/cma.j.cn511374-20230505-00263
- Author:
Jing WANG
1
;
Xueyan WANG
;
Xiao SONG
;
Ping ZUO
;
Shengfang QIN
;
Na XI
;
Chun CHEN
Author Information
1. Department of Medical Genetics and Prenatal Diagnosis, Maternal and Child Health Care Hospital of Sichuan Province, Chengdu, Sichuan 610045, China. 99412358@qq.com.
- Publication Type:Journal Article
- MeSH:
Pregnancy;
Female;
Humans;
Pregnancy, Twin;
Prenatal Diagnosis;
Down Syndrome/genetics*;
Chromosome Aberrations;
Aneuploidy;
Trisomy 18 Syndrome/genetics*;
Trisomy
- 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.
