10265例高龄孕妇的产前筛查与诊断方法分析  

Analysis of prenatal screening and diagnostic methods in 10,265 cases of advanced maternal age

作　　者：慈倩倩 武胜英 万秋花 马运荣 赵建文 张健 CI Qianqian;WU Shengying;WAN Qiuhua;MA Yunrong;ZHAO Jianwen;ZHANG Jian(Prenatal Screening and Diagnosis Center,Jining Maternal and Child Health Family Planning Service Center,Jining 272100,Shandong,China;Department of Ultrasound,Jining Maternal and Child Health Family Planning Service Center,Jining 272100,Shandong,China;Department of Laboratory,Jining Maternal and Child Health Family Planning Service Center,Jining 272100,Shandong,China;Technical Assurance Department,Zhejiang Biosan Biochemical Technologies Co.Ltd,Hangzhou 310000,Zhejiang,China)

机构地区：[1]济宁市妇幼保健计划生育服务中心产前筛查与诊断中心,山东济宁272100 [2]济宁市妇幼保健计划生育服务中心超声医学科,山东济宁272100 [3]济宁市妇幼保健计划生育服务中心检验科,山东济宁272100 [4]浙江博圣生物技术股份有限公司技术保障部,浙江杭州310000

出　　处：《山东大学学报（医学版）》2023年第1期51-57,93,共8页Journal of Shandong University:Health Sciences

基　　金：山东省妇幼保健协会2021年度科技创新科研项目(鲁妇幼协发[2021]19号);2021年济宁市重点研发计划项目(医学研究和临床医疗类)(济科字[2021]36号)。

摘　　要：目的探讨不同高危因素下高龄孕妇的产前筛查与诊断策略。方法回顾性分析2018年1月至2020年12月在济宁市妇幼保健计划生育服务中心就诊的高龄(预产年龄≥35岁)孕妇的临床资料(n=10265)。高龄孕妇按是否合并高危因素分为两组:单纯高龄组(n=10016)、高龄合并高危因素组(n=249)。单纯高龄组按不同年龄分为7组:35岁组(n=2030)、36岁组(n=2077)、37岁组(n=1592)、38岁组(n=1204)、39岁组(n=969)、40岁组(n=792)、>40岁组(n=1352)。比较分析各组的产前筛查与诊断结果。选取单纯低龄组孕妇(n=8364)作为对照。结果与单纯低龄组(1.67‰,14/8364)相比,38岁及以上孕妇组胎儿染色体非整倍体的发生率显著增加(P<0.001,P=0.012,P<0.001,P<0.001)。较单纯染色体核型分析,CMA额外检出拷贝数变异(CNV)36例[8.22%(36/438)]。高龄合并高危因素组胎儿染色体非整倍体及CNV的发生率远高于单纯高龄组(P均<0.001)。结论高龄孕妇胎儿染色体异常发生率增加,临床上应全面评估其高危因素,选择个体化产前筛查与诊断策略。Objective To explore the prenatal screening and diagnostic strategies for advanced pregnancy with different risk factors.Methods From January 2018 to December 2020,clinical data of 10,265women of advanced maternal agetreated in Jining Maternal and Child Health and Family Planning Service Center were retrospectively analyzed.The patients were divided into two groups:advanced age group(n=10,016)and advanced age with high-risk factors group(n=249).The advanced age group was subdivided into 7 groups:35-year old group(n=2,030),36-year old group(n=2,077),37-year old group(n=1,592),38-year old group(n=1,024),39-year old group(n=969),40-year old group(n=792),and>40-year old group(n=1,352).The prenatal screening and diagnostic results were analyzed among the groups.A young age group(n=8,364)was selected as the controls.Results Compared with the young age group(1.67‰,14/8364),the 38-,39-,40-and>40 year-old groups had significantly inreased incidence of chromosomal aneuploidy abnormalities(P<0.001,P=0.012,P<0.001,P<0.001).An additional 36 cases of copy number variation(CNV)were detected by chromosomal microarray analysis(CMA)[8.22%(36/438)].The incidences of chromosomal aneuploidy and chromosomal CNV were much higher in advanced age with high-risk factors group than in advanced age group(all P<0.001).Conclusion The incidence of fetal chromosomal abnormalities is increased in women of advanced maternal age.A comprehensive clinical assessment of risk factors should be performed to select an individualized prenatal screening and diagnosis strategy.

关 键 词：高龄妊娠 产前筛查与诊断 高危因素 染色体非整倍体 染色体拷贝数变异 

分 类 号：R715.5[医药卫生—妇产科学]