Effectiveness of non-invasive prenatal screening for the detection of fetal sex chromosome anomalies.
10.3760/cma.j.cn511374-20200422-00295
- Author:
Yan WANG
1
;
Xuemei CHEN
;
Min LIN
;
Hailong HUANG
;
Yifang DAI
;
Na LIN
;
Deqin HE
;
Liangpu XU
Author Information
1. Fujian Provincial Maternity and Child Health Care Hospital, the Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, Fujian 350001, China. xiliangpu@fjmu.edu.cn.
- Publication Type:Journal Article
- MeSH:
Aneuploidy;
Female;
Humans;
Pregnancy;
Prenatal Diagnosis;
Retrospective Studies;
Sex Chromosomes/genetics*;
Trisomy
- From:
Chinese Journal of Medical Genetics
2021;38(4):325-328
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To evaluate the efficacy of non-invasive prenatal screening (NIPS) for fetal sex chromosome anomalies.
METHODS:A retrospective analysis was carried out for 20 802 women undergoing NIPS screening. For 165 cases suspected for fetal sex chromosomal anomalies, the results of invasive prenatal diagnosis were obtained.
RESULTS:Among the 165 cases suspected for fetal sex chromosome anomalies, 129 have accepted invasive prenatal diagnosis, and 45 were confirmed, which yielded a positive predictive value of 34.88%. These included 16 cases of 47,XYY, 10 cases of 47,XXY, 6 cases of 45,X/46,XX, 5 cases of 47,XXX, 3 cases of 45,X, 1 case of 45,X/46,X,i(X)(q10), 1 case of 45,X/46,X,del(X)(q22), 1 case of 46,X,del(X)(q22), 1 case of 46,X,del(X)(p11) and 1 case of Xp22.31 1.2 Mb deletion.
CONCLUSION:NIPS has limited value for detecting fetal sex chromosome anomalies. Karyotyping analysis combined with other diagnostic techniques can offer effective prenatal diagnosis for suspected cases.
