摘要
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 explore the application and significance of amniotic fluid cell chromosome karyotype analysis in prenatal di- agnosis. Methods After informed consent, type B ultrasound-guided amniocentesis was performed in 485 pregnant women of 18-22 gesta- tional weeks for cell cuhure and karyotype analysis. Results Among 485 cases, amniotic fluid samples were successfully cultured in 481 ca- ses, the successful rate was 99. 18%. A total of 36 eases were diagnosed as abnormal karyotypes, the abnormal detection rate was 7. 42%, including trisomy 21 syndrome in 9 cases, trisomy 18 syndrome in 2 cases, 47, XN, ＋der in 1 case, 45, XO in 2 cases, 46, X, i （xq） in 1 case, 47, XXY in 2 cases, translocation in 3 cases, inversion in 5 cases, and polymorphism in 11 cases. Conclusion Amniotic fluid chromosome examination during the second trimester of pregnancy is an important method for prenatal diagnosis, which is of great significance in guiding eugenics and reducing the birlh of neonates with birth defects.
出处
《中国妇幼保健》
CAS
2017年第8期1725-1727,共3页
Maternal and Child Health Care of China
关键词
产前诊断
无创检测
羊水细胞培养
核型分析
Prenatal diagnosis
Noninvasive examination
Amniotic fluid cell culture
Karyotype analysis
