摘要
目的探讨荧光原位杂交技术(FISH)在孕中期唐氏综合征的筛查诊断价值及意义。方法应用FISH实验方法结合血清学检查对我院门诊及住院部共收集100例孕16-22w的孕妇羊水标本进行产前遗传学疾病筛查和诊断。结果FISH筛查100例孕妇,其中2例为唐氏综合征高分险病2例,与染色体分析检查相符,占总筛查人数的2%;其中血清学检查筛查出DS高风险25例,占25%。结论孕中期产前FISH诊断可以有效预防唐氏综合征等遗传学疾病患儿的出生;FISH相对于血清学检测有较高的特异性和灵敏性;FISH较染色体分析除较高的特异性和灵敏性外,操作简便能快速得出诊断结果。
Objective：To investigate the value and meaning of screening and diagnosis of Down syndrome in FISH in pregnant.Methods：Under the application of FISH experiment method together with clinic serological examination,to screen and diagnose the antenatal collected 100 cases of 16-22w pregnancy amniotic fluid samples.Results：FISH and chromosome analysis had the same results,which had both diagnosed 2 cases of disease chromosome analysis,for 2% in screening examination of total number.The serologic test screening high-risk 25 cases,for 25% in screening examination of total number.Conclusion：FISH diagnosis can effectively prevent down syndrome in pregnant antenatal of the children genetic disease,FISH are identified relative higher specificity and sensitivity than clinic serological examination.Besides,FISH examination is faster than chromosome analysis in diagnosis Down syndrome in antenatal pregnant.
出处
《中国优生与遗传杂志》
2010年第4期50-51,60,F0002,共4页
Chinese Journal of Birth Health & Heredity
基金
卫生部课题编号:WKJ2007-3-001
