五例Wolf-Hirschhorn综合征的产前诊断  

Study on clinical features and diagnostic methods of prenatal Wolf-Hirschhorn syndrome

作　　者：王燕[1] 陈雪美[1] 薛会丽[1] 陈灵基 陈梅环 黄海龙[1] 何德钦[1] 徐两蒲[1] Wang Yan;Chen Xuemei;Xue Huili;Chen Lingji;Chen Meihuan;Huang Hailong;He Deqin;Xu Liangpu(Fujian Maternity and Child Health Hospital,Affiliated Hospital of Fujian Medical University,Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect,Fuzhou,Fujian 350001,China)

机构地区：[1]福建省妇幼保健院,福建医科大学附属医院,福建省产前诊断与出生缺陷重点实验室,福州350001

出　　处：《中华医学遗传学杂志》2021年第8期735-739,共5页Chinese Journal of Medical Genetics

基　　金：福建省自然科学基金(2018J01235)。

摘　　要：目的研究产前Wolf-Hirschhorn综合征(Wolf-Hirschhorn syndrome,WHS)胎儿的临床特点,探讨其产前超声特征与诊断方法,为产前遗传咨询提供依据。方法回顾性分析2016年3月至2020年2月确诊的5例WHS胎儿,分析胎儿的染色体核型分析和染色体微阵列分析(chromosomal microarray analysis,CMA)结果。结果染色体核型分析检出4例WHS,CMA检出5例。产前超声提示异常4例,其中3例存在胎儿宫内生长受限,仅1例存在颌面部异常。胎儿缺失片段从小到大依次为4p16.3p16.1缺失6.5Mb,4p16.3p15.32缺失15.6 Mb合并2p25.3重复906 kb,4p16.3p15.31缺失20.4 Mb,4p16.3p15.1缺失35 Mb和4p16.3p14缺失37 Mb。结论胎儿生长受限可能是WHS早期表现之一,颌面部超声未见异常不能排除WHS可能。单纯核型分析检测WHS存在漏诊情况,结合CMA技术可以提高诊断的准确性。Objective To investigate the clinical features of fetuses with Wolf-Hirschhorn syndrome(WHS)and explore the diagnostic methods and prenatal ultrasound characteristics and provide evidence for prenatal genetic counseling.Methods We retrospectively analyzed 5 cases of WHS fetuses diagnosed from March 2016 to February 2020,and analyzed the results of chromosomal karyotype analysis and chromosomal microarray analysis(CMA)of the fetuses.Results Five cases of WHS were detected by CMA,four cases were detected by karyotype analysis.Prenatal ultrasound revealed 4 abnormalities,of which 3 had intrauterine growth restriction,and only 1 had abnormalities of the maxillofacial region.The sequence of the fragments was 4p16.3p16.1 with a loss of 6.5 Mb,4p16.3p15.32 with a loss of 15.6 Mb combined with 2p25.3 increased by 906kb,4p16.3p15.31 with a loss of 20.4 Mb,4p16.3p15.1 with a loss of 35 Mb and 4p16.3p14 with a loss of 37 Mb.Conclusion Fetal growth restriction may be one of the early manifestations of WHS.Absence of fetal facial abnormality by prenatal ultrasound screening cannot exclude WHS.Karyotype analysis may miss the diagnosis of WHS,while combined CMA techniques can improve the diagnostic accuracy.

关 键 词：产前诊断 Wolf-Hirschhorn综合征 核型分析 染色体微阵列分析 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]