3例唐氏综合征女患者生育情况及产前诊断实践  

Reproduction and prenatal diagnosis of three women with Down's syndrome

作　　者：王常宏[1] 宛杨[1] 梅莉[1] 张宁芝[1] 闻柳 吴晓丹 李小娜 Wang Changhong;Wan Yang;Mei Li;Zhang Ningzhi;Wen Liu;Wu Xiaodan;Li Xiaona(People's Hospital of Fuyang,Fuyang 236000,China)

机构地区：[1]阜阳市人民医院产前诊断中心,236000

出　　处：《中华生殖与避孕杂志》2020年第6期501-505,共5页Chinese Journal of Reproduction and Contraception

摘　　要：目的总结唐氏综合征女性患者生育情况及产前诊断的特点。方法对3例唐氏综合征女性患者生育情况及产前诊断的特点及相关文献进行分析。结果 3例孕妇均有唐氏综合征特殊面容及智力低下,外周血染色体检查均提示为47,XX,+21;3例孕妇丈夫外周血染色体检查皆正常。3例孕妇在中孕期行羊水穿刺,抽取胎儿羊水送检染色体核型及染色体微阵列分析(chromosomal microarray analysis,CMA)检查,结果提示染色体核型均未见明显异常,病例1、病例3胎儿羊水CMA检查正常,病例2胎儿羊水CMA检查结果显示胎儿在1号染色体1q21.l-q21.2区段存在2.1 Mb片段的缺失。3例孕妇均行产前超声筛查,胎儿均未见明显异常。随访3例孕妇均于足月分娩,婴儿随访至1岁时无不良临床表型。结论唐氏综合征女性患者有可能自然妊娠并生育正常婴儿,建议对此类孕妇及配偶进行充分的生育前后遗传咨询,并对胎儿进行全面的遗传学诊断评估。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.

关 键 词：唐氏综合征 生育情况 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]