Reproduction and prenatal diagnosis of three women with Down's syndrome
10.3760/cma.j.cn101441-20190328-00127
- VernacularTitle:3例唐氏综合征女患者生育情况及产前诊断实践
- Author:
Changhong WANG
1
;
Yang WAN
1
;
Li MEI
1
;
Ningzhi ZHANG
1
;
Liu WEN
1
;
Xiaodan WU
1
;
Xiaona LI
1
Author Information
1. 阜阳市人民医院产前诊断中心 236000
- Publication Type:Journal Article
- Keywords:
Down’s syndrome;
Reproduction;
Prenatal diagnosis
- From:
Chinese Journal of Reproduction and Contraception
2020;40(6):501-505
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the reproduction and prenatal diagnosis of female with Down's syndrome.Methods:Three cases of women with Down's syndrome were analyzed and relative literatures were reviewed.Results:All the three pregnant women had Down's syndrome special features and mental retardation, and their karyotypes of peripheral blood chromosome were all 47,XX,+21. The karyotypes of peripheral blood chromosome of their husbands were all normal. All the three women underwent amniocentesis during the second trimester. The cytogenetic analysis of cultured amniocytes of all the three cases showed normal karyotypes. Chromosomal microarray analysis (CMA) results of cultured amniocytes from all the three cases were successfully analyzed. Case 1 and Case 3 were normal, while 2.1 Mb deletion of 1q21.1-q21.2 was detected in Case 2. Prenatal ultrasound screening of all the three cases showed normal. All the three women delivered at term and their babies at 1-year-old all had normal phenotype.Conclusion:Females with Down's syndrome may be capable of reproduction and give birth to healthy children. It’s necessary to provide sufficient prenatal and postnatal genetic counselling to Down's pregnant women and families, and to offer comprehensive genetic testing to fetuses during pregnancy.
