百色地区羊水细胞染色体核型回顾性分析  

Retrospective Analysis of Chromosomal Karyotype of Amniotic Fluid Cells in Baise Area

作　　者：赵文杰 农伟平 李金花[1] Zhao Wenjie;Nong Weiping;Li Jinhua(Genetics Laboratory of Baise Maternal and Child Health Hospital,Baise,Guangxi 533000)

机构地区：[1]百色市妇幼保健院,广西百色533000

出　　处：《中外健康》2024年第1期54-56,共3页

摘　　要：研究羊水细胞染色体核型分布特征,为后期产前诊断工作提供参考依据。选择百色市妇幼保健院2018年1月—2023年7月遗传实验室检测的5978例羊水细胞培养制备染色体G显带核型进行回顾性分析。研究结果显示,5978例孕产妇羊水培养中检出异常核型564例,占9.43%;564例羊水细胞染色体核型异常中,主要以数目异常为主,其次是结构异常,最后是嵌合体;36例具有典型代表的核型中31例羊水样本的结果不同,5例结果用两种检测方法检出相同结果。研究发现,染色体核型异常是造成孕妇不良孕产史的重要原因之一。孕周达17~24周时抽取羊水行产前诊断,有助于减少先天缺陷患儿的出生,达到优生优育,对提高人口质量有重要的意义。To study the distribution characteristics of chromosome karyotypes in amniotic fluid cells,providing reference for later prenatal diagnosis work.The article retrospectively analyzed 5978 cases of amniotic fluid cell culture and chromosome G-banding karyotypes prepared by genetic laboratory testing at Baise Maternal and Child Health Hospital from January 2018 to July 2023.The research results showed that 564 cases of abnormal karyotype were detected in amniotic fluid culture of 5978 pregnant women,accounting for 9.43%;Among 564 cases of chromosomal karyotype abnormalities in amniotic fluid cells,numerical abnormalities were the main cause,followed by structural abnormalities,and finally chimerism;Among the 36 cases with typical representative karyotypes,31 amniotic fluid samples had different results,while 5 cases had the same results detected by two detection methods.Research has found that chromosomal karyotype abnormalities are one of the important causes of adverse pregnancy and childbirth history in pregnant women.Extracting amniotic fluid for prenatal diagnosis when the gestational age reaches 17-24 weeks can help reduce the birth of children with congenital defects,achieve eugenics,and have important implications for improving population quality.

关 键 词：羊水细胞培养 染色体 核型 

分 类 号：R596.1[医药卫生—内科学]