2689例孕中期羊水染色体核型分析

Karyotype Analysis of 2689 Second Trimester Amniotic Fluid

目的:探讨总结2689例妊娠中期孕妇羊水染色体异常异态核型类型及分布情况。方法:选择2016年1月至2021年12月在深圳市第二人民医院产前诊断中心门诊就诊的2689例孕妇为研究对象,经无菌羊膜腔穿刺术抽取羊水培养后,进行染色体核型分析。结果:2689例孕妇羊水检出异常核型268例,异常率为9.97%;多态核型123例,多态率为4.57%。其中数目异常210例(包括嵌合异常),检出率为7.81%;结构异常58例,检出率为2.16%。数目异常中21三体综合征98例,18三体综合征16例,13三体综合征2例,20三体综合征2例,8号三体综合征1例,性染色体数目异常88例,三倍体1例,标记染色体2例。结论:妊娠中期胎儿染色体异常核型以数目异常为主,其中21三体综合征发生率最高,其次是性染色体数目异常,结构异常也不容忽视。染色体核型分析是产前诊断检测中的金标准,对产前诊断具有不可替代的价值。

Objective To investigate and summarize the types and distribution of abnormal chromosome karyotypes in amniotic fluid in 2689 pregnant women in the second trimester.Methods A total of 2689 pregnant women from January 2016 to December 2021 in the Prenatal Diagnosis Center of Shenzhen Second People's Hospital were selected as the research objects.Amniotic fluid was extracted and cultured by aseptic amniocentesis for karyotype analysis.Results A total of 268 cases of abnormal karyotypes were detected in 2689 pregnant women,the abnormal rate was 9.97%.Polymorphic karyotypes with 123 cases,the polymorphism rate was 4.57%.Among them,210 cases were abnormal(including chimerism),the detection rate was 7.81%.Structural abnormality with 58 cases,the detection rate was 2.16%.Among the abnormal numbers,there were 98 cases with trisomy 21 syndrome,16 cases of trisomy 18 syndrome,2 cases of trisomy 13 syndrome,2 cases of trisomy 20 syndrome,1 case of trisomy 8 syndrome,88 cases of abnormal number of sex chromosomes,1 case of triploid and 2 cases of labeled chromosomes.Conclusion In the second trimester of pregnancy,the number of chromosome abnormalities in the fetus is mainly abnormal,among which the incidence of trisomy 21 syndrome is the highest,followed by sex chromosome abnormalities,and structural abnormalities can not be ignored.Chromosome karyotype analysis is the gold standard in prenatal diagnosis and has irreplaceable value in prenatal diagnosis.