妊娠中期羊水染色体诊断及随访结果分析

The analyzed of karyotypes of amniotic fluid cell and follow up

目的:总结20022004年本院妊娠中期羊水染色体检查及产后随访结果,为今后产前诊断提供经验。方法:原位传代培养羊水细胞并制备染色体,G显带分析核型,产后随访。结果:638例中发现27例异常染色体,其中21-三体2例,18-三体2例,部分21-三体1例,异位5例,倒位8例,嵌合4例。结论对高危妊娠妇女进行羊水染色体核型检查是必须的,开展相关的B超检查及分子诊断,可以进一步提高产前诊断的准确率。

Objective： For better prenatal diagnosis, 638 cases of karyotypes of amniotic fluid cell were retrospectively analyzed and followed up.. Methods： Amniotic fluid cells were cultured in situ and their karyotypes were analyzed by G band, followed them after delivery. Results： 27 abnormal karyotypes were found from 638 case. Among them, there were 2 cases of 21 trisomy, 2 case of 18 trisomy, 1 case of part 21 trisomy, 5 case of translocation, 8 cases of inversion and 4 cases of mosaicism. Conclusion： It is necessary to analysis karyotypes of amniotic fluid cell for high risk gravida , combined with molecule diagnosis can be better to prenatal diagnosis.