围生儿死亡的母体因素和遗传学因素分析  

Analysis of maternal and genetic factors of perinatal death

作　　者：王瑞霞 陈敏[1] 翦薇[1] 李南[1] 陈菲[1] 陈结云[1] 武晓娟 张慧敏[1] 李志华[1] WANG Ruixia;CHEN Min;JIAN Wei;LI Nan;CHEN Fei;CHEN Jieyun;WU Xiaojuan;ZHANG Huimin;LI Zhihua(Department of Prenatal Diagnosis,The Third Affiliated Hospital of Guangzhou Medical University/Key Laboratory of Major Obstetric Diseases of Guangdong Province/Guangdong Provincial Clinical Research Center for Obstetrics and Gynecology/Guangdong-Hong Kong-Macao Greater Bay Area Higher Education Joint Laboratory of Maternal-Fetal Medicine,Guangzhou,Guangdong 510150,China)

机构地区：[1]广州医科大学附属第三医院产前诊断科/广东省产科重大疾病重点实验室/广东省妇产疾病临床医学研究中心/粤港澳母胎医学高校联合实验室,广东广州510150

出　　处：《中国优生与遗传杂志》2024年第10期2083-2090,共8页Chinese Journal of Birth Health & Heredity

基　　金：广州市卫生健康科技项目(20241A011085)。

摘　　要：目的对围生儿死亡的母体因素和遗传学因素进行分析,以预防和减少该病发生。方法回顾性分析2014年1月至2022年12月广州医科大学附属第三医院收治的围生儿死亡的548例患者的临床资料,对死亡原因进行分类及分析。结果死因分别为:母体因素116例(21.17%)、胎儿因素323例(58.94%)、胎盘脐带因素59例(10.77%)和不明原因50例(9.12%)。母体因素组中最主要的因素为子痫前期(74.13%)。123例进行遗传学分析的病例中,染色体数目异常17例,致病性/可能致病性拷贝数变异CNVs 16例,13例WES结果异常,另有10例重型α-地中海贫血、2例重型β-地中海贫血和2例血红蛋白H病。结论建议对围生儿死亡病例进行遗传学检测,CMA和家系全外显子组测序发挥着重要作用。常规定期产检,识别高危孕妇,加强监测和管理可有效降低围生儿死亡发生。Objective To analyze the maternal and genetic factors of perinatal death,thus to prevent and reduce perinatal death.Methods A retrospective analysis was conducted on the clinical data of 548 patients with perinatal deaths admitted to the Third Affiliated Hospital of Guangzhou Medical University from January 2014 to December 2022.The causes of death were categorized and analyzed.Results 116 cases(21.17%)due to maternal factors,323 cases(58.94%)due to fetal factors,59 cases(10.77%)due to placental and umbilical cord factors,and 50 cases(9.12%)with unknown causes.Among the maternal factors,preeclampsia was the most significant one,accounting for 74.13%.Of the 123 cases that underwent genetic analysis,17 cases had chromosomal abnormalities,16 cases had pathogenic/likely pathogenic copy number variations(CNVs),13 cases had abnormal whole-exome sequencing(WES)results,10 cases had severe alpha-thalassemia,2 cases had severe beta-thalassemia,and 2 cases had hemoglobin H disease.Conclusion Genetic testing is recommended for cases of perinatal deaths,with copy number variation analysis(CMA)and family-based whole-exome sequencing playing important roles.Regular prenatal checks,identification of high-risk pregnant women,and strengthened monitoring and management can effectively reduce the occurrence of perinatal deaths.

关 键 词：围生儿死亡 死因 母体因素 遗传学因素 

分 类 号：R714.7[医药卫生—妇产科学]