摘要
目的对孕中期羊水细胞染色体进行分析,比较不同临床指征的异常核型检出率及对特殊异常核型结果进行综合判读。方法对2015年5月至2018年7月具有产前诊断指征的2117例孕妇行羊膜腔穿刺术抽取适量羊水进行培养、收获、制片、显带及染色体核型分析。结果2117例胎儿核型中共发现142例异常染色体核型(6.7%),199例表现为染色体多态(9.4%),其中临床指征为无创产前筛查异常及夫妇一方染色体异常的异常染色体核型检出率偏高(41.4%、60.0%),唐氏筛查高风险与高龄异常染色体核型检出率分别为3.3%、3.6%。142例异常核型主要为染色体数量异常(75.4%),其中21三体占57.9%,结构异常主要为平衡易位和嵌合体(37.1%、31.4%)。辅助染色体微阵列分析(CMA)与染色体核型分析比对,发现577例羊水中染色体核型分析的异常检出率为6.9%(40/577);CMA的异常检出率为9.4%(54/577)。结论无创产前筛查技术的使用提高了异常染色体的检出率;孕中期的羊水染色体异常种类多样,应多种检测方法联合使用,可有效地提高异常病例的检出率,既提高了人口素质,也降低了出生缺陷发病率。
Objective To analyze the amniotic fluid cell chromosome in the middle stage of pregnancy,to compare the detection rate of abnormal karyotype in different clinic indications and to conduct the comprehensive interpretation on special abnormal karyotypes. Methods The amniocentesis was performed to extract appropriate amounts of amniotic fluid for conducting the culture,harvest,section preparation,banding and chromosome karyotype analysis in 2 117 pregnant women with antenatal diagnosis indication from May 2015 to July 2018. Results Among 2 117 cases of fetal karyotypes,142 cases (6.7%) of abnormal karyotypes were found and 199 cases (9.4%) manifested by chromosome polymorphisms,in which the non-invasive prenatal screening group and couples chromosome abnormality group in the clinical indications had the higher detection rate of abnormal chromosome karyotype (41.4%,60.0%),the detection rates of the Down′s screening high-risk group and the advanced age group were 3.3% and 3.6% respectively.One hundred and forty-two cases of abnormal karyotypes were mainly the quantity abnormalities(75.4%),in which 21 trisomy accounted for 57.9 %,the structural abnormalities were mainly the equilibrium transposition and chimera (37.1%, 31.4 %).In the comparison between the assisted chromosome microarray analysis (CMA) and karyotype,the abnormal detection rate of chromosome karyotype analysis in 577 cases of amniotic fluid was 6.9%(40/577);the CMA abnormality detection rate was 9.4%(54/ 577 ). Conclusion The use of non-invasive prenatal screening technology increases the detection rate of abnormal chromosomes;the amniotic fluid chromosomal abnormalities in the middle pregnancy are various in types,and various detection methods should be conjunctively used,which can not only increase the population quality and also reduces the incidence of birth defects.
作者
闫梅
李辉
陈佛兰
叶建祥
YAN Mei;LI Hui;CHEN Folan;YE Jianxiang(Huizhou Municipal Maternal and Child Health Care Family PlanningService Center,Huizhou,Guangdong,China)
出处
《检验医学与临床》
CAS
2019年第15期2171-2174,共4页
Laboratory Medicine and Clinic
关键词
羊水细胞
产前诊断
染色体
amniotic fluid cells
prenatal diagnosis
chromose
