1075例产前诊断中32例染色体异常胎儿预后分析  

The prognosis analysis on the 32 cases with chromosome abnormality among 1075 cases in prenatal diagnosis

作　　者：覃婷[1] 田矛[1] 莫伟英[1] 施月秋[1] 

机构地区：[1]广西壮族自治区人民医院,南宁5340021

出　　处：《中国优生与遗传杂志》2011年第1期45-46,43,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨胎儿染色体异常与产前诊断的高危因素的关系及胎儿预后。方法回顾性分析2004年10月至2009年8月间在我院因各种原因行羊膜腔穿刺或脐带血穿刺产前诊断的胎儿染色体核型。结果总共1075例产前诊断中共发现胎儿染色体异常32人,染色体异常检出率2.97%。其中检出45,XY,t(21.14)1例,双胎均为46,XX,22Pstk+1例,47,XY,+(?),1例,46,XX,t(8;16)1例,46,XY,t(1;18)1例,46,XY,t(2;14)1例,46,XX,t(11;12)1例,产前诊断指征均为夫妻双方之一染色体平衡异位。46,XY,inv(Y)1例,产前诊断指征为生育过唐氏综合征。46,XY,inv(9)10例,产前诊断指征为羊水少,单脐动脉1人,孕期使用胚胎毒性药物使用史1人,唐氏征筛查高危4人,高龄2人,地中海贫血1人。47,XXY1例,产前诊断指征为胎儿双肾盂分离。唐氏综合征6例,产前诊断指征为唐氏征高危2人,高龄3人,NT值高1人。47,XYY2例,产前诊断指征为唐氏征高危1人,高龄1人。47,XXY/46,XX1例,产前诊断指征为唐氏征高危。18-三体3例,产前诊断指征为高龄1人,NT值高1人,18,13-三体高危1人。结论夫妻双方之一染色体平衡异位胎儿染色体核型异常类型多样。唐氏综合征及18-三体胎儿常见于高龄,血清学筛查高危,NT值升高孕妇。孕11-14周B超测NT值及孕中期血清学唐氏综合征筛查可以提高产前诊断的效率,减少出生缺陷。Objective： To study the relationship between fetal chromosome abnormality and the high risk factors of prenatal diagnosis,and fetal prognosis.Methods： To analyze the fetal chromosome karyotypes which were performed the amniocentesis or cordocentesis in prenatal diagnosis due to various reasons in our hospital from October 2004-August 2009.Results： In 1075 cases,the number of fetal chromosome abnormality was 32 in prenatal diagnosis,and the detection rate of chromosome abnormality was 2.97%.There was one case of 45,XY,t（21;14） ,two cases of both fetuses of 46,XX,22Pstk ＋ ,one case of 47,XY,＋ （？） ,one case of 46,XX,t（8;16） ,one case of 46,XY,t（1;18） ,one case of 46,XY,t（2;14） ,one case of 46,XX,t（11;12） The indication of prenatal diagnosis was the chromosome balanced translocation.In one case of 46,XY,inv（Y） ,the indication of prenatal diagnosis showed that the patient has given birth to the baby with Down syndrome.In ten cases of 46,XY,inv（9） ,the indications of prenatal diagnosis were as follows： oligohydramnios（1） single umbilical artery （1） ,history of taking embryotoxicity medicine in pregnancy （1） ,high risk for Down syndrome through screening （4） ,advanced maternal age （2） ,thalassemia （1）.In one case of 47,XXY,the indication of prenatal diagnosis was fetal pyelic separation.In six cases of Down syndrome,the indications of prenatal diagnosis were as follows： two cases of high risk for Down syndrome,three cases of advanced maternal age and one case with high NT value.In two cases of 47,XYY,the indications of prenatal diagnosis were one case of high risk for Down syndrome and one case of advanced maternal age.In one case of 47,XXY/46,XX,the indication of prenatal diagnosis was high risk for Down syndrome.In three cases of trisomy 18,the indications of prenatal diagnosis were as follows： one case of advanced maternal age,one case with high NT value and one case of high risk for trisomy 18 and 13.Conclusions： the variety of fetal chromos

关 键 词：产前诊断 染色体异常 

分 类 号：R714.55[医药卫生—妇产科学]