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目的探讨羊水细胞染色体核型分析技术在产前诊断中的应用及意义。方法 485例孕18~22周的孕妇在知情同意的情况下,经B超定位引导下行羊膜腔穿刺术,进行细胞培养及染色体核型分析。结果 485例羊水标本一次性培养成功481例,一次性培养成功率99.18%。485例中共检出异常核型36例,异常检出率7.42%,其中21-三体9例,18-三体2例,47,XN,+der 1例,45,XO 2例,46,X,i(xq)1例,47,XXY 2例,易位3例,倒位5例,多态性11例。结论孕中期羊水染色体检查是产前诊断的重要方法,对指导优生优育,降低缺陷儿的出生具有重要意义。
Objective To investigate the application and significance of amniotic fluid cell karyotype analysis in prenatal diagnosis. Methods 485 pregnant women with gestational age from 18 to 22 weeks under the condition of informed consent underwent guided amniocentesis guided by B-mode ultrasound for cell culture and karyotype analysis. Results A total of 485 cases of amniotic fluid samples were successfully cultured in 481 cases, with a success rate of 99.18%. Of the 485 cases, 36 cases were abnormal karyotypes and 7.42% were abnormal, of which 9 cases were 21-trisomy, 2 cases were 18-trisomy, 47 cases were 1 case of XN, 1 case of X, i (xq), 2 cases of 47 and XXY, 3 cases of translocation, 5 cases of inverted position and 11 cases of polymorphism. Conclusions The second trimester amniotic fluid chromosome examination is an important method of prenatal diagnosis, which is of great significance to guide prenatal and postnatal care and reduce the birth of defective children.