Is it necessary to choose NIPT-plus for pregnant women who opt for non-invasive prenatal testing? A study of 50 cases.
10.3760/cma.j.cn511374-20200619-00456
- Author:
Peng DAI
1
;
Ganye ZHAO
;
Shanshan GAO
;
Shaoning CHEN
;
Fengmin ZHANG
;
Wanying GUO
;
Xiangdong KONG
Author Information
1. Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450046, China. kongxd@263.net.
- Publication Type:Journal Article
- MeSH:
Aneuploidy;
Female;
Humans;
Pregnancy;
Pregnant Women;
Prenatal Diagnosis;
Trisomy;
Trisomy 13 Syndrome;
Trisomy 18 Syndrome
- From:
Chinese Journal of Medical Genetics
2021;38(9):895-899
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore whether it is necessary to choose NIPT-plus for the prenatal screening of pregnant women.
METHODS:The results of NIPT and NIPT-plus sequencing data, fetal DNA concentration, prenatal diagnosis and pregnancy outcome of 50 pregnant women were compared.
RESULTS:Compared with NIPT, NIPT-plus attained similar fetal DNA concentration and a 4.4-fold increase in sequencing data. NIPT was able to detect 4 cases of 21-trisomy, 2 cases of 18-trisomy, and 9 cases of sex chromosome aneuploidies (SCAs) signaled by NIPT-plus, but missed one 18-trisomy, and failed to detect rare chromosome aneuploidies (RCAs) and microdeletion/microduplication syndromes (MMS). The PPVs of NIPT-plus for 21-trisomy, 18-trisomy, SCAs, MMS and RCAs were 100%, 100%, 44.4%, 30.4% and 0%, respectively. And those of NIPT for 21-trisomy, 18-trisomy, and SCAs were 100%, 100%, and 44.4%, respectively.
CONCLUSION:It is necessary for pregnant women to select NIPT-plus to improve the detection rate of common trisomies, SCAs and disease-specific MMS, therefore reduce the occurrene of birth defect.
