3165例羊水染色体核型结果的分析

Retrospective analysis on chromosome karyotypes among 3165 pregnancy

目的探讨羊水细胞培养及染色体核型分析技术在产前诊断中的应用及其重要性。方法有不同产前诊断指征的孕16-24w的孕妇,在B超定位引导下抽取羊水标本进行羊水细胞和染色体核型分析。结果 3165例羊水标本,检测出异常核型177例,异常率为5.6%。其中21-三体107例(60.5%),18-三体19例(10.7%),13-三体1例(0.6%),性染色体异常18例(10.2%),染色体结构异常32例(18.8%)。结论对具有产前诊断指征的孕妇进行羊水染色体检查,是重要的产前诊断方法,可以避免染色体异常患儿出生,达到优生优育,提高我国人口素质。

Objective：To explore the application and importance of amniotic fluid cell chromosome karyotype analysis in prenatal diagnosis. Methods：Amniotic fluid samples were extracted from pregnant women according to prenatal diagnosis syndromes,whose gestational ages were 16 to 24 weeks. The samples were determined for amniotic fluid cell culture and chromosome karyotypes. Results：There were 177 cases of abnormal karyotypes in 3165 cases detected with amniocentesis,with an abnormal rate of 5.6%. Among them,107 cases（60.5%）were trisomy 21,19 cases（10.7%）were trsomy 18,1 case（0.6%）were trisomy 13,18 cases（10.2%）were sex chromosome abnormalities. 32 cases（18.8%）were structural abnormalities. Conclusion：Amniotic fluid chromosome examination of Pregnant women having pregnancy diagnosia is an important method for prenatal diagnosis,which can prevent birth of neonates with chromosomal abnormalities,is of great significance in guiding eugenics and improve quality of population.