孕中期母血清标记物筛查唐氏综合征及其它先天畸形的研究  

Studies on Down′s Syndrome Prenatal Screening and Diagnosis.

作　　者：丁显平[1] 郭定移[2] 魏霞[1] 李建平 

机构地区：[1]四川大学生命科学学院遗传医学研究所,610065 [2]大英县人民医院 [3]成都市锦江区妇产科医院

出　　处：《中国优生与遗传杂志》2005年第4期60-61,103,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的　进行唐氏综合征及其它先天畸形的产前筛查、诊断,以降低出生缺陷。方法　对2 812例孕14～2 0w的孕妇采用酶联免疫方法检测孕妇血清AFP和β-HCG浓度,通过“优生胜算”软件计算危险系数,对唐氏高危孕妇取羊水作染色体和基因诊断;对神经管缺损高危孕妇行B超检查。结果　在2 812例孕妇中筛查出唐氏综合征、神经管缺、及18、13三体高危315例,占筛查总数的11.2 % ;有12 1人愿意进一步确诊,发现2例异常妊娠;2 7例18、13三体高危孕妇,虽未作进一步确诊,但有2例已胎死宫内,证明也为异常妊娠;在神经管缺损高危的79例中,全部作了B超检查,发现1例神经管缺损患儿。结论　母血清标记物进行唐氏综合征及其它先天畸形的产前筛查并结合其它方法进行诊断,对降低出生缺陷具有积极意义。Objective: In order to reduce the frequency of natal defect, establish a rapid and accurate method to screen and diagnose Down′s syndrome and other congenital abnormality. Methods: Detect the value of AFP and β-HCG in the serum of 2812 pregnant women at about 14 th ～20 th weeks gestation by ELISA and calculate their risk coefficient with professional software 'YOUSHENG SHENGSUAN'. Analyze karyotype in amniotic fluid and carry out gene diagnosis to Down′s syndrome high risk pregnant women. Perform B-ultrasonography to neural tube defect (NTD) high risk cases. Results: In 2812 pregnant women, 315 cases (11.2%) were high risk to Down′s syndrome, NTD and trisomy 18, trisomy 13. According to further diagnosis, 1 cases of 84 high risk pregnant women were abnormal pregnancies. Although 27 trisomy 18, trisomy 13 high risk cases didn't accept further diagnosis, 2 cases of them had been certified to be abnormal pregnancies because the fetuses died in the womb. According to B-ultrasonography detection, only one of 79 NTD high risk cases was NTD fetus. Conclusion: Prenatal screening and prenatal diagnosis have very important significance to the prevention of Down′s syndrome and other congenital abnormality.

关 键 词：唐氏综合征 产前筛查 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]