染色体微阵列分析在胎儿颅内结构异常产前诊断中的应用  

Application of chromosome microarray analysis to prenatal diagnosis of fetal intracranial structural abnormality

作　　者：宁舒婷 张海英 耿国兴[3] 王映飞[4] 黄而弘 李敏清[5] NING Shu-ting;ZHANG Hai-ying;GENG Guo-xing;WANG Ying-fei;HUANG Er-hong;LI Min-qing(Department of Gynecology and Obstetrics,Jiangbin Hospital of Guangxi Zhuang Autonomous Region,Nanning 530021,China;Department of Ultrasound,Jiangbin Hospital of Guangxi Zhuang Autonomous Region,Nanning 530021,China;Center of Hereditary and Metabolic Diseases,the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region,Nanning 530002,China;Department of Radiology,the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region,Nanning 530002,China;Department of Prenatal Diagnosis and Genetic Diagnosis,the First Affiliated Hospital of Guangxi Medical Hospital,Nanning 530021,China)

机构地区：[1]广西壮族自治区江滨医院妇产科,南宁市530021 [2]广西壮族自治区江滨医院B超科,南宁市530021 [3]广西壮族自治区妇幼保健院遗传代谢中心,南宁市530002 [4]广西壮族自治区妇幼保健院放射科,南宁市530002 [5]广西医科大学第一附属医院产前诊断与遗传病诊断科,南宁市530021

出　　处：《广西医学》2020年第12期1507-1511,共5页Guangxi Medical Journal

摘　　要：目的探讨染色体微阵列分析(CMA)在胎儿颅内结构异常产前诊断中的应用价值。方法纳入超声检查提示胎儿颅内结构异常的121例病例,回顾性分析其羊水或脐带血的染色体核型分析及CMA结果。结果 121例颅内结构异常的胎儿中,传统染色体核型分析检出染色体核型异常11例(9.1%),其中致病性染色体核型异常7例,检出率为5.8%;CMA检出拷贝数变异(CNV)26例(21.5%),其中致病性CNV 15例,检出率为12.4%,较传统染色体核型分析高6.6%。15例CMA检出致病性CNV的胎儿经随访均引产,其中8例微缺失与微重复的胎儿传统染色体核型分析未检出异常。11例传统染色体核型分析提示染色体核型异常的胎儿中,4例CMA未检出异常,其中3例出生后生长与发育正常,1例失访。结论与传统染色体核型分析相比,CMA可针对胎儿颅内结构异常提供更多临床信息,对胎儿结局的评估有重要意义。Objective To explore the application value of chromosome microarray analysis(CMA) to prenatal diagnosis of fetal intracranial structural abnormality. Methods A total of 121 cases of fetal intracranial structural abnormality diagnosed by ultrasound were enrolled. The chromosome karyotyping analysis and CMA results of amniotic fluid or umbilical cord blood were retrospectively analyzed. Results Among the 121 fetuses with intracranial structural abnormality, abnormal karyotype was identified by conventional chromosome karyotyping analysis in 11(9.1%) cases, including seven with pathogenic abnormal karyotype, with a detection rate of 5.8%;copy number variation(CNV) was found by CMA in 26(21.5%) cases, including 15 with pathogenic CNV, with a detection rate of 12.4% which was 6.6 percent over the rate of conventional chromosome karyotyping analysis. Fifteen fetuses with pathogenic CNV identified by CMA all suffered from induced labor after follow-up, among which eight fetuses with microdeletion/microrepetition were normal on conventional chromosome karyotyping analysis. Among 11 fetuses with abnormal chromosome karyotype on conventional chromosome karyotyping analysis, four CMA cases were normal, including three with normal postnatal growth and development and one lost to follow up. Conclusion By comparison with conventional chromosome karyotyping analysis, CMA can provide more clinical information for fetal intracranial structural abnormalities, playing an important role in fetal outcome assessment.

关 键 词：颅内结构异常 胎儿 染色体微阵列分析 染色体核型分析 产前诊断 拷贝数变异 

分 类 号：R321.6[医药卫生—人体解剖和组织胚胎学] R394[医药卫生—基础医学]