摘要
目的探讨染色体微阵列分析(CMA)在先天性多发性畸形中的诊断效果及临床意义,为临床诊疗提供依据和参考。方法选择2016年1月-2019年12月产前超声检查异常的先天性多发性畸形孕妇104例作为对象,对孕妇进行随访直到分娩或终止妊娠;所有孕妇均给予超声检查,并对胎儿进行染色体G-显带核型分析及CMA分析,分析CMA在先天性多发性畸形中的诊断效果。结果产前超声检查异常的先天性多发性畸形104例均最终得到确诊,畸形数量排在前2位的分别为:2项畸形、3项畸形,分别占:51.92%和32.69%;104例先天性多发性畸形类型相对较多,排在前三位的分别为:泌尿系统畸形、神经系统畸形,泌尿系统畸形、颜面部及附属器官异常、生殖系统异常和骨骼发育异常、脊柱和/或四肢骨骼畸形,分别占:23.08%、11.54%和10.58%;104例先天性多发性畸形胎儿均完成核型分析,结果表明:23例患儿染色体异常,染色体检出率为22.12%。异常的23例患儿中,常染色体数目异常10例,性染色体数目异常2例,常染色体结构异常11例;81例染色体核型未见异常者给予CMA检查,根据检查结果结合国际数据库完成CNVs的致病性,结果表明:5例患儿经CMA分析基因检出CNVs,检出率为6.17%。结论将CMA用于先天性多发性畸形诊断中效果理想,具有分辨率高、覆盖范围广等优点,能从亚微观结构显示染色体畸形与重复情况,能为临床诊疗提供依据,值得推广应用。
Objective:To investigate the diagnostic effect and clinical significance of chromosome microarray analysis(CMA)in congenital multiple malformations,so as to provide basis and reference for clinical diagnosis and treatment.Methods:A total of 104 pregnant women with congenital multiple malformations who had abnormal prenatal ultrasound examinations between January 2016 and December 2019 were selected as subjects.The pregnant women were followed up until delivery or termination of pregnancy;all pregnant women were given ultrasound examinations and the fetuses Chromosome G-banding karyotype analysis and CMA analysis to analyze the diagnostic effect of CMA in congenital multiple malformations.Results:104 cases of congenital multiple malformations with abnormal prenatal ultrasound examination were finally confirmed.The top 2 malformations were:2 malformations and 3 malformations,accounting for 51.92%and 32.69%respectively;104 cases There are relatively many types of congenital multiple malformations,the top three are:urinary system malformations,nervous system malformations,urinary system malformations,facial and accessory organ abnormalities,reproductive system abnormalities and skeletal development abnormalities,spine and/or The skeletal malformations of the limbs accounted for 23.08%,11.54%and 10.58%respectively;104 cases of congenital multiple malformations had completed the karyotype analysis.The results showed that:23 cases of children with chromosome abnormalities,the chromosome detection rate was 22.12%.Among the 23 children with abnormalities,10 were abnormal in the number of autosomal chromosomes,2 were abnormal in the number of sex chromosomes,and 11 were abnormal in the autosomal structure;81 cases with no abnormal karyotype were given CMA examination,and CNVs were completed according to the examination results and international databases.The results showed that CNVs were detected in 5 cases of children by CMA analysis,and the detection rate was 6.17%.Conclusion:The CMA is ideal for the diagnosis of congenital multiple malformations.It has the advantages of high resolution and wide coverage.It can display chromosomal malformations and duplication from the submicroscopic structure,and can provide a basis for clinical diagnosis and treatment.It is worthy of popularization and application.
作者
郭婉茹
谷孝月
姚玲
刘恒
石冲
戚桂杰
GUO Wan-ru;GU Xiao-yue;YAO Ling;LIU Heng;SHI Chong;QI Gui-jie(Prenatal Diagnosis and Genetic Disease Diagnosis Center,Tangshan Maternal and Child Health Hospital,Tangshan 063000,Hebei,China)
出处
《中国优生与遗传杂志》
2020年第7期873-876,905,共5页
Chinese Journal of Birth Health & Heredity
关键词
染色体微阵列分析
染色体G-显带核型分析
先天性多发性畸形
诊断效果
临床意义
Chromosome microarray analysis
Chromosome G-banding karyotype analysis
Congenital multiple malformations
Diagnostic effect
Clinical significance
