Clinical characteristics and prenatal diagnosis of fetuses with sex chromosomal aneuploidies detected by non-invasive prenatal testing during early and midterm pregnancies.
10.3760/cma.j.cn511374-20200318-00174
- VernacularTitle:孕早中期性染色体非整倍体胎儿的临床特征和产前诊断分析
- Author:
Xiaojin LUO
1
;
Yanyun GUO
;
Fengxiang WEI
;
Liang HU
;
Yuanyuan PEI
;
Xiaoyi CONG
;
Xiaoyi LIU
;
Jing CHEN
;
Gaochi LI
;
Hanbiao CHEN
;
Li GUO
;
Zheng CHEN
Author Information
1. Longgang District Maternity and Child Health Care Hospital, Shenzhen, Guangdong 518172, China. rogers886@163.com.
- Publication Type:Journal Article
- MeSH:
Aneuploidy;
Down Syndrome;
Female;
Fetus;
Humans;
Pregnancy;
Prenatal Diagnosis;
Sex Chromosome Aberrations;
Trisomy
- From:
Chinese Journal of Medical Genetics
2021;38(4):321-324
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the indication, karyotyping result, ultrasound finding, pregnancy decision and follow-up of fetuses with sex chromosome aneuploidies (SCA) detected by non-invasive prenatal testing (NIPT) during early and midterm pregnancies.
METHODS:The results of 225 singleton pregnancies with fetal SCA detected by NIPT were reviewed and analyzed.
RESULTS:The 225 cases included 45,X (n=37), 47,XXY (n=74), 47,XXX (n=50), 47,XYY (n=56) and mosaicisms (n=8), among which 121 (53.8%) have opted to terminate the pregnancy, including 45,X (n=31), 47,XXY (n=61), 47,XXX (n=14), 47,XYY (n=12) and 3 mosaicisms. The remainder 104 (46.2%) have elected to continue with the pregnancy, among which three have opted to terminate due to abnormalities detected by ultrasonography, and two had spontaneous abortions.
CONCLUSION:NIPT as a first-tier screening method can effectively detect fetal trisomies 21, 13 and 18 as well as SCA. The types of fetal SCA and presence of ultrasound abnormalities are critical factors for the termination of pregnancy.
