Special Column on NIPT
Clinical characteristics and prenatal diagnosis of fetuses with sex chromosomal aneuploidies detected by non-invasive prenatal testing during early and midterm pregnancies
Luo Xiaojin, Guo Yanyun, Wei Fengxiang, Hu Liang, Pei Yuanyuan, Cong Xiaoyi, Liu Xiaoyi, Chen Jing, Li Gaochi, Chen Hanbiao, Guo Li, Chen Zheng
Published 2021-04-10
Cite as Chin J Med Genet, 2021, 38(4): 321-324. DOI: 10.3760/cma.j.cn511374-20200318-00174
Abstract
ObjectiveTo 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.
MethodsThe results of 225 singleton pregnancies with fetal SCA detected by NIPT were reviewed and analyzed.
ResultsThe 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%) elected to continue with the pregnancy, among which three have opted to terminate due to abnormalities detected by ultrasonography, and two had spontaneous abortions.
ConclusionNIPT 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.
Key words:
Sex chromosome aneuploidy; Prenatal diagnosis; Karyotyping; Ultrasound finding; Pregnancy decision
Contributor Information
Luo Xiaojin
Longgang District Maternity and Child Health Care Hospital, Shenzhen, Guangdong 518172, China
Guo Yanyun
Longgang District People’s Hospital, Shenzhen, Guangdong 518172, China
Wei Fengxiang
Longgang District Maternity and Child Health Care Hospital, Shenzhen, Guangdong 518172, China
Hu Liang
Longgang District Maternity and Child Health Care Hospital, Shenzhen, Guangdong 518172, China
Pei Yuanyuan
Longgang District Maternity and Child Health Care Hospital, Shenzhen, Guangdong 518172, China
Cong Xiaoyi
Longgang District Maternity and Child Health Care Hospital, Shenzhen, Guangdong 518172, China
Liu Xiaoyi
Longgang District Maternity and Child Health Care Hospital, Shenzhen, Guangdong 518172, China
Chen Jing
Longgang District Maternity and Child Health Care Hospital, Shenzhen, Guangdong 518172, China
Li Gaochi
Longgang District Maternity and Child Health Care Hospital, Shenzhen, Guangdong 518172, China
Chen Hanbiao
Longgang District Maternity and Child Health Care Hospital, Shenzhen, Guangdong 518172, China
Guo Li
Longgang District Maternity and Child Health Care Hospital, Shenzhen, Guangdong 518172, China
Chen Zheng
Longgang District Maternity and Child Health Care Hospital, Shenzhen, Guangdong 518172, China
