孕中晚期羊水细胞培养联合FISH诊断胎儿染色体异常的临床价值

Clinical value of amniotic fluid cell culture combined with FISH for diagnosing fetal chromosomal abnormalities

目的:分析孕中、晚期羊水细胞培养联合荧光原位杂交(FISH)诊断胎儿染色体异常的临床价值。方法:选取2904名妊娠中、晚期孕妇,采用羊水细胞培养联合FISH诊断胎儿染色体异常,分析诊断结果并总结两种诊断方式各自的优缺点。结果:2904份羊水标本中2815份培养成功(96.9%),标本自接种、培养至核型分析均分为两组,两组分析2815例羊水染色体结果均一致。在成功培养的2815份标本中发现异常核型139例(4.94%)。2904份羊水标本FISH检测均成功,成功率100.00%。FISH检测共检出染色体数目异常90例,与羊水细胞染色体核型分析结果一致,染色体核型检出的3例染色体缺失重复、44例结构异常及2例嵌合异常未被FISH检出。结论:孕中、晚期羊水细胞培养的成功率值得肯定,结合FISH实验能够实现染色体数目异常的快速、早期判断,是传统细胞遗传学方法的有效补充。

Objective:To analyze the clinical value of amniotic fluid cell culture combined with fluorescence in situ hybridization(FISH)for diagnosing fetal chromosomal abnormalities of pregnant women during the second and third trimesters of pregnancy.Methods:2904 pregnant women during the second or third trimesters of pregnancy were selected,and their fetal chromosomal abnormalities were diagnosed by amniotic fluid cell culture combined with FISH.The diagnostic results were analyzed,and the advantages and disadvantages of the two diagnostic methods were summarized.Results:Of 2904 amniotic fluid specimens,2815(96.9%)were successfully cultured.The samples after inoculation and cultured were divided into two groups for karyotype analysis.The results of chromosome analysis of 2815 amniotic fluid specimens in the two groups were identical.Among 2815 successfully cultured specimens,139 cases(4.9%)were found to have abnormal karyotypes.FISH was successfully detected in 2904 amniotic fluid samples with a success rate of 100.0%.FISH found 90 cases with chromosome abnormality,which was consistent with that result by amniotic fluid cell karyotype analysis.The other 3 cases with chromosomal deletion and duplication,44 cases with structural abnormalities,and 2 cases with chimeras detected by karyotype were not detected by FISH.Conclusion:The success rate of amniotic fluid cell culture of women during the second or third trimesters of pregnancy is worthy of affirmation,which combined with FISH can achieve rapid and early diagnosis of chromosome number abnormalities,so it is a beneficial complement to traditional cytogenetic methods.