Down′s综合征及神经管缺损产前筛查、诊断的研究  

Studies of prenatal screening and diagnosis in Down′s syndrome and NTD.

作　　者：张启先[1] 丁显平[1] 魏霞[1,2] 胡誉 

机构地区：[1]四川大学生命科学学院遗传医学研究所,610064 [2]成都市华大医院 [3]成都市妇幼保健院

出　　处：《中国优生与遗传杂志》2010年第3期76-78,共3页Chinese Journal of Birth Health & Heredity

基　　金：四川省重点科技项目(04SG022-033)

摘　　要：目的对四川地区孕中期妇女进行21-三体综合征和神经管缺损的产前筛查、诊断,以降低出生缺陷。方法对30 722例孕14-20周的孕妇采用酶联免疫方法检测孕妇血清AFP和β-HCG浓度,通过计算机软件计算危险系数,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30 722例孕妇中筛查出唐氏综合征高危1434例、神经管缺高危262例、18、13-三体高危110例,共计1806例,占筛查总数的5.88%;有785人愿意通过抽取羊水进一步确诊,发现22例21-三体儿,1例为46,XX,5p-,3例18-三体儿;在18、13-三体高危的110例中,虽未作进一步确诊,但有3例已胎死宫内,证明也为异常妊娠;在神经管缺损高危的262例中,全部作了B超检查,发现5例神经管缺损患儿。结论产前筛查结合产前诊断对21-三体综合征和神经管缺损的预防具有重要意义。Objective： To establish a rapid and accurate method to screen and diagnose Down＇s syndrome and other congenital abnormality and finally reduce the frequency of natal defect. Methods ： The value of AFP and β - HCG in the serum of 30722 pregnant women at about 14th - 20th weeks gestation were detected by ELISA and with professional software ＂YOUSHENG SHENGSUAN＂, their risk coefficient were calculated. For the Down＇s syndrome high risk pregnant women, karyotypes in amniotic fluid were analyzed and gene diagnosis were carried out. For neural tube defect （NTD） high risk cases, B -ultrasonography was performed. Results： In 30722 pregnant women, 1806 cases （5.88%） were detected for abnormal pregnancy, of which 1434 cases （4.7%） were high risk for Down＇s syndrome, 262 cases were NTD and 110 cases were trisomy 18 or trisomy 13. In the 785 cases who wanted to be further diagnosed, 22 cases were trisomy 21, 1 case was 46, XX, 5p - , and 3 cases were trisomy 18. Although 110 trisomy 18 or trisomy 13 high risk cases didn＇t accept further diagnosis, 3 cases of them were certified to be abnormal pregnancies because the fetuses died in the womb. According to B - uhrasonography detection, 5 of 262 NTD high risk cases were NTD fetus. Conclusion ： Prenatal screening and prenatal diagnosis play an important role in preventing the birth of Down＇s syndrome and other congenital abnormalities.

关 键 词：Down’s综合征 神经管缺损 产前筛查 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]