产前超声指标联合染色体微阵列分析在胎儿生长受限中的应用研究  

Application of prenatal ultrasound indicators combined with chromosoml microarray analysis in fetal growth restriction

作　　者：张晨晖 余采茶 戴显宁 赖亚男 郑加永 朱波 ZHANG Chenhui;YU Caicha;DAI Xianning;LAI Yanan;ZHENG Jiayong;ZHU Bo(Department of Reproductive Genetics,Wenzhou People's Hospital,Wenzhou 325000,China)

机构地区：[1]温州市人民医院生殖遗传科,325000

出　　处：《浙江医学》2025年第2期178-183,I0006,共7页Zhejiang Medical Journal

基　　金：温州市基础性医疗卫生科技项目(Y20220422)。

摘　　要：目的探讨产前超声指标联合染色体微阵列分析(CMA)在胎儿生长受限(FGR)中的应用价值。方法回顾性选取2018年1月至2023年6月在温州市人民医院接受侵入性产前诊断的61例FGR胎儿为研究对象。所有胎儿均行常规染色体核型分析和CMA检测。根据国际妇产科超声协会胎儿超声检查规范,将胎儿分为结构异常+FGR组15例、非结构异常+FGR组12例和孤立性FGR组34例。比较3组不良妊娠率及CMA异常检出率,对染色体核型分析和CMA检测结果进行分析。结果结构异常+FGR组、非结构异常+FGR组、孤立性FGR组不良妊娠率分别为26.7%(4/15)、8.3%(1/12)、17.6%(6/34),3组比较差异无统计学意义(P=0.488)。CMA检测结果显示,61例样本中,芯片异常25例(包括染色体非整倍体异常5例,单亲二倍体4例,致病性拷贝数变异5例,临床意义未明的拷贝数变异11例)。与染色体核型分析相比,CMA具有8.2%(5/61)的致病性拷贝数变异增量产率。结构异常+FGR组、非结构异常+FGR组、孤立性FGR组CMA异常检出率分别为46.7%(7/15)、66.7%(8/12)、29.4%(10/34),3组比较差异无统计学意义(P=0.068)。结论当超声检测发现FGR时,无论是否合并其他结构异常,均应建议进行产前诊断,以进一步检测是否存在染色体异常。另外CMA能够提高对FGR的产前诊断效率,有助于对FGR胎儿进行产前遗传咨询和妊娠管理。Objective To investigate the application value of prenatal ultrasound indicators combined with chromosomal microarray analysis(CMA)in fetal growth restriction(FGR).Methods A retrospective analysis was conducted on 61 cases with FGR who underwent invasive prenatal diagnosis at Wenzhou People's Hospital from January 2018 to June 2023.All cases underwent chromosomal karyotyping analysis and CMA.According to the International Society of Ultrasound in Obstetrics and Gynecology guidelines for fetal ultrasound examination,fetuses were categorized into three groups:structural abnormalities+FGR group(n=15),non-structural abnormalities+FGR group(n=12),and isolated FGR group(n=34).The three groups were compared in adverse pregnancy rates and CMA abnormality detection rates,and chromosomal karyotyping analysis and CMA detection results were analyzed.Results In the structural abnormalities+FGR group,non-structural abnormalities+FGR group,and isolated FGR group,the adverse pregnancy rates were 26.7%(4/15),8.3%(1/12),and 17.6%(6/34),there was no statistically significant difference among the three groups(P=0.488).Among the 61 samples,CMA detection results revealed 25 cases with abnormalities(including 5 cases of chromosomal aneuploidy,4 cases of uniparental disomy,5 cases of pathogenic copy number variation,and 11 cases of variations of uncertain significance).Compared with chrornosomal karyotype analysis,CMA had an increased yield of pathogenic copy number variation by 8.2%(5/61).In the structural abnormalities+FGR group,non-structural abnormalities+FGR group,and isolated FGR group,the CMA abnormality detection rates were 46.7%(7/15),66.7%(8/12),and 29.4%(10/34),there was no statistically significant difference among the three groups(P=0.068).Conclusion When ultrasound detects FGR,regardless of whether other structural abnormalities are present,prenatal diagnosis should be recommended to further detect the presence of chromosomal abnormalities.Additionally,CMA can enhance the efficiency of prenatal diagnosis for FGR,aiding in

关 键 词：胎儿生长受限 染色体微阵列分析 产前诊断 嵌合体 

分 类 号：R71[医药卫生—妇产科学]