染色体微阵列技术在产科和儿科遗传病诊断中的临床应用价值分析  

Clinical application value of chromosome microarray technology analysis in diagnosis of obstetrics and pediatrics genetic disease

作　　者：田海英 罗真真 汪琳琳 张红 刘庆华 TIAN Haiying;LUO Zhenzhen;WANG Linlin;ZHANG Hong;LIU Qinghua(Department of Clinical Laboratory,The Second Affiliated Hospital of Shandong First Medical University,Taian,Shandong 271000,China;Department of Hematology,The Second Affiliated Hospital of Shandong First Medical University,Taian,Shandong 271000,China)

机构地区：[1]山东第一医科大学第二附属医院检验科,山东泰安271000 [2]山东第一医科大学第二附属医院血液科,山东泰安271000

出　　处：《国际检验医学杂志》2022年第6期701-704,共4页International Journal of Laboratory Medicine

基　　金：山东第一医科大学学术提升计划项目(2019QL017);山东省医药卫生科技发展计划项目(202011001103)。

摘　　要：目的探讨染色体微阵列分析技术(CMA)在不同产前诊断指征的孕妇、早产儿、高危儿、先天畸形及不明原因发育迟缓患儿中的临床应用价值。方法收集2015年2月至2020年12月泰安地区287例羊水穿刺和流产组织标本,118例早产儿、高危儿、先天畸形及不明原因发育迟缓患儿的外周血标本,并进一步收集其中25例患儿父母外周血标本的CMA检测结果,分析检出率。结果在287例产前诊断标本中包括270例羊水穿刺标本和17例流产组织标本,共检测出73例确诊病例,异常检出率为25.4%。其中大片段异常(≥10 Mb)确诊病例59例,小片段异常(1~10 Mb)确诊病例12例,检出率为16.4%,CMA可检出2.7%(2/73)的微小片段异常确诊病例。在118例患儿外周血标本中,共检测出58例确诊病例,检出率为49.15%,并进一步检测了25例患儿父母的外周血标本,其中8例与患儿在相同区域发现染色体异常。结论CMA能够提高染色体异常的检出率,为不明原因的发育迟缓患儿提供明确的病因诊断,对临床诊断具有重要价值。Objective To explore the clinical application value of chromosome microarray analysis(CMA)in different prenatal diagnosis indications of pregnant women,premature infant,high-risk infant,and children with unexplained developmental delay.Methods A total of 287 amniocentesis and aborted tissue samples were collected from Taian area between February 2015 and December 2020,peripheral blood samples from 118 premature infants,high-risk infants,congenital malformations and unexplained developmental delay,and 25 children′s parents′peripheral blood samples were recruited for the CMA testing and the positive diagnostic rate was analyzed.Results Among 287 prenatal specimens,270 amniotic fluid specimens and 17 abortive tissue specimens were included,a total of 73 confirmed cases of the disease were detected,and the abnormal detection rate was 25.4%.A total of 59 cases with large segment(≥10 Mb)were pathogenic among them,12 cases with small segment(1-10 Mb)were pathogenic among them,with an abnormal detection rate of 16.4%.CMA could detect 2.7%(150/790)cases of tiny fragments abnormality.In 118 cases of pediatric peripheral blood samples,a total of 58 cases were identified as pathogenic cases,the abnormal detection rate was as high as 49.15%,peripheral blood samples from the parents of 25 children were further examined,eight of them were found to have chromosomal abnormalities in the same area as the children.Conclusion CMA technique can improve the detection rate of chromosomal abnormalities and provide a clear etiological diagnosis for children with developmental delay of unknown cause,which has important clinical value.

关 键 词：染色体微阵列技术 产前诊断 发育迟缓 遗传咨询 

分 类 号：R446.1[医药卫生—诊断学]