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【目的】探讨荧光原位杂交技术(fluorescence in situ hybridization,FISH)在产前遗传学疾病中筛查诊断的价值及意义。【方法】应用FISH技术结合血清学检查对本院门诊及住院部共收集100例孕16～22周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例为唐氏综合征高风险病患者,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筛查诊断可以有效预防唐氏综合症等遗传学疾病患儿的出生;FISH相对于血清学检测有较高的灵敏性和特异性;FISH较染色体分析除较高的灵敏性和特异性外,操作简便经济有效,能快速得出诊断结果。
【Objective】 To investigate the diagnostic value and significance of fluorescence in situ hybridization (FISH) in prenatal genetic diseases. 【Methods】 A total of 100 pregnant women with gestational age from 16 to 22 weeks were enrolled in outpatient department and inpatient department for screening and diagnosis of prenatal genetic diseases by FISH and serological tests. 【Results】 100 pregnant women were screened by FISH. Two of them were high risk patients with Down’s syndrome, which was consistent with chromosomal analysis and accounted for 2% of the total number of screening. Among them, serological tests screened 25 patients with high risk of DS , Accounting for 25%. 【Conclusion】 The screening of prenatal FISH screening during the second trimester can effectively prevent the birth of children with genetic diseases such as Down’s syndrome. FISH has higher sensitivity and specificity than serological detection. The sensitivity and specificity, the simple and cost-effective operation, can quickly come to the diagnosis.