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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 diagnostic value and significance of fluorescent in situ hybridization (FISH) in the screening of Down’s syndrome in the second trimester of pregnancy. Methods A total of 100 cases of pregnant women with amniotic fluid during pregnancy were collected from outpatients and inpatients by FISH and serological tests. Prenatal genetic screening and diagnosis were performed. Results FISH screening of 100 pregnant women, of which 2 cases of Down Syndrome high-risk disease in 2 cases, consistent with chromosome analysis, accounting for 2% of the total number of screening; serological screening of 25 cases of high risk DS , Accounting for 25%. Conclusion The prenatal FISH diagnosis during the second trimester can effectively prevent the birth of children with Down’s syndrome and other genetic diseases. FISH has higher specificity and sensitivity than serological tests. In addition to the higher specificity and sensitivity Sensitivity, easy to operate quickly to obtain diagnostic results.