摘要
目的对11807例羊水染色体核型结果进行分析,为优生优育提供实验室诊断依据。方法统计2011年1月至2018年12月于深圳市妇幼保健院产前诊断中心就诊的11807例孕妇羊水染色体核型结果,分析异常率、各种异常核型分布情况以及<25、25-29、30-34、35-39和≥40岁各年龄组的阳性率。结果共分析染色体核型11807例,异常核型1155例(异常率9.78%);其中数量异常763例(占66.06%),检测率6.46%:47,XN,+21为451例(占39.04%)、47,XN,+18为106例(占9.18%)、47,XN,+13为26例(占2.25%),性染色体数目异常178例(占15.41%);结构异常392例(占33.94%):易位100例(占8.66%)、倒位51例(占4.42%)、缺失45例(占3.89%)、重复12例(占1.04%)、衍生染色体33例(占1.90%)、标记染色体4例(占0.35%),嵌合体142例(占12.29%),未知来源附加片段(0.70%)。<25、25-29、30-34、35-39和≥40岁组羊水标本染色体异常检出率分别为9.52%、9.98%、10.48%、12.05%、13.64%。染色体核型异常结果为常染色体三体为主,21-三体综合征发病率最高,发病率随年龄的增大而增加。结论染色体核型分析技术是产前诊断工作重要方法之一,为临床遗传咨询提供诊断依据,降低出生缺陷,提高人口素质。
Objective:To analyse the karyotype result of amniotic fluid in 11807 cases of pregnant women in our hospital,and provide experimental basis for eugenics.Methods:We studied the 11807 cases of maternal amniotic fliud chromosome karyotype from January 2011 to December 2018 in the center for prenatal diagnosis of our hospital,analysed the abnormal rate,the distribution of chromosomal abnormalities and the different distribution between the five age groups(<25,25-29,30-34,35-39 and≥40 years old).Results:There are 11807 cases totally,and of which there are 1155 abmormal cases,the cumulative potisive rate was 9.78%;763 cases(66.06%)were numeric abnormalities,the detection rate was 6.46%:47,XN,+21(451,39.04%),47,XN,+18(106,9.18%),47,XN,+13(26,2.25%),constitutional sex chromosome abnormalities(178,15.41%);392 cases(33.94%)were structural abnormalities:translocation t(100,8.66%),inversion inv(51,4.42%),deletion del(45,3.89%),duplication dup(12,1.04%),derivative chromosome der(33,1.90%),marker chromosome(4,0.35%),mosaic karyotype(142,12.29%),additional material of unknown origin(8,0.70%).The rate of anomaly in<25,25-29,30-34,35-39 and≥40 years old was 9.52%,9.98%,10.48%,12.05%,13.64%respectively.Trisomy is the major karyotype and trisomy21 had the highest incidence.Incidence of abmormal chromosome increased with age.Conclusion:Karyotyping was one of the most important methods for prenatal diagdosis,and could provide diagnostic basis for clinical genetic counseling,reduce birth defects,improve the quality of the population.
作者
李素丽
罗福薇
陈武斌
张瑚
耿茜
谢建生
李海飞
LI Su-li;LUO Fu-wei;CHEN Wu-bin;ZHANG Hu;GENG Qian;XIE Jian-sheng;LI Hai-fei(Center for Medical Genetics,Shenzhen Maternity and Child Healthcare Hospital,Shenzhen,Guangdong,518048,China)
出处
《中国优生与遗传杂志》
2020年第7期805-807,共3页
Chinese Journal of Birth Health & Heredity
基金
广东省医学科研基金(A2018213)
关键词
羊水细胞
核型分析
染色体畸变
产前诊断
Amniotic fluid cells
Karyotyping
Chromosomal aberrations
Prenatal diagdosis
作者简介
通讯作者:李海飞
