18q缺失综合征产前诊断方法  

Prenatal Diagnosis of 18q Deletion Syndrome

作　　者：马莉[1] 李蕾[2] 吴红[1] 刘永明 杨新 MA Li;LI Lei;WU Hong;LIU Yong-ming;YANG Xin(Center for Laboratory Diagnosis,Yantai Yuhuangding Hospital Affiliated to Medical College of Qingdao University,Yantai 264000,China;Obstetrics Department,Yantai Yuhuangding Hospital Affiliated to Medical College of QingdaoUniversity,Yantai 264000,China)

机构地区：[1]青岛大学附属烟台毓璜顶医院检验中心,山东烟台264000 [2]青岛大学附属烟台毓璜顶医院产科,山东烟台264000

出　　处：《中山大学学报（医学科学版）》2023年第4期677-683,共7页Journal of Sun Yat-Sen University:Medical Sciences

基　　金：烟台科技计划项目(2019YD004)。

摘　　要：【目的】探讨18q缺失综合征的产前诊断方法,提高对无创产前筛查(NIPT)技术在18q缺失综合征产前诊断中应用价值的认识。【方法】本研究通过对孕妇进行血清学筛查、超声影像学检查、羊水核型分析及亲本外周血染色体核型分析等传统检查手段以及NIPT检查、染色体微阵列芯片检测(CMA)、流产组织基因组拷贝数变异测序(CNV-Seq)检测等分子生物学技术来诊断18q缺失综合征,并根据检查结果进行遗传咨询。【结果】该病例NIPT结果提示18号染色体24 Mb片段缺失,经过羊水核型分析及CMA检测证实,该片段包含BCL2在内的17个基因的缺失变异,均与18q缺失综合征相关。结合超声影像学检查,确诊为18q缺失综合征。结合亲本外周血染色体核型分析结果,该变异为新发突变。【结论】介入性产前诊断技术是诊断18q缺失综合征的重要标准。NIPT技术作为中孕期的一项重要筛查,可以在超声影像学未见异常的情况下,早期提示染色体片段缺失的可能性,降低时间及经济成本。【Objective】To explore the prenatal diagnostic methods of 18q deletion syndrome and improve understand⁃ing on the value of non-invasive prenatal testing(NIPT)in prenatal diagnosis of 18q deletion syndrome.【Methods】18q de⁃letion syndrome was detected by conventional methods such as serological screening,ultrasonic imaging examination,chromosome karyotype analyses of both amniotic fluid cells and parental peripheral blood,and molecular biological tech⁃niques including NIPT,chromosomal microarray analysis(CMA)and copy number variation sequencing(CNV-Seq).Ge⁃netic counseling was conducted based on these examination results.【Results】NIPT identified a 24 MB deletion on the chro⁃mosome 18 which contained 17 genes including BCL2 by karyotype analysis of amniotic fluid cells and CMA.Further ultra⁃sonic imaging examination confirmed the diagnosis of 18q deletion syndrome and karyotype analysis of parental peripheral blood revealed a de novo deletion mutation.【Conclusions】Interventional prenatal diagnosis is an integral standard for the diagnosis of 18q deletion syndrome.NIPT,as an important screening test in middle pregnancy,can indicate the early pos⁃sible chromosome segment deletion and reduce the time and economic cost when no abnormality is found in ultrasonic imaging.

关 键 词：18q缺失综合征 无创产前筛查 遗传咨询 

分 类 号：R72[医药卫生—儿科]