羊水细胞染色体核型分析在产前诊断中的应用价值

Applicable value of amniotic cell karyotype analysis for prenatal diagnosis laboratory of jiangmen central hospital

目的探讨羊水细胞染色体核型分析在产前诊断中的临床应用价值。方法对怀孕16～24w符合产前诊断条件的孕妇经知情同意后,在B超介导下行羊膜腔穿刺,抽取羊水,进行羊水细胞培养,观察细胞生长情况,抓住羊水细胞收获时机,用胰酶消化法收获细胞,常规G显带,进行核型分析。结果在1028例羊水细胞培养成功病例中发现异常核型44例。其中常染色体结构异常23例,常染色体非整倍体数量异常11例,性染色体数量异常5例,性染色体结构异常3例,常染色体缺失1例,其它核型异常1例。结论羊水细胞染色体核型分析是目前产前诊断染色体异常胎儿必不可少的检查方法,可及早发现异常胎儿并终止妊娠,对提高人口素质,优生优育具有十分重要的意义。

Objective ： To explore clinical value of amniotic cell karyotype analysis for prenatal diagnosis. Methods ： Amniotic fluid of 16 - 24 pregnant weeks women were drawn via ultrasound - Monitored Amnioeentesis through imformed consent, amniotic cell were cultivated, cell growth condition monitored, best cell gathered time grasped, cell digested using trypsin, karyotype were analysed through G- banding. Among 1028 successful samples case, karyotype abnormalities were 47 cases, 23 cases of which were thromo- some constructure abnormalities, 4 cases of which were the number of chromosome abnormality, 5 cases of which were sex chromo- some abnormality, 3 cases of which were sex chromosome construction, 1 case were autosomal deletion, 1 case was other karotype abnormality. Conclusion ： Amniotic cell karotype analysis is important prenatal diagnostic measures which could improve the quality of the population, do a good job of birth.