2015—2021年经腹脐静脉穿刺病例临床资料构成变化分析  

Changes of clinical data composition of percutaneous umbilical cord blood sampling from 2015 to 2021

作　　者：黄淑晖[1] 黄婷婷[1] 王欣荣[1] 刘丹平[1] 袁慧珍[1] 刘艳秋[1] HUANG Shu-hui;HUANG Ting-ting;WANG Xin-rong;LIU Dan-ping;YUAN Hui-zhen;LIU Yan-qiu(Medical Genetics Center,Maternal and Child Health Hospital of Jiangxi Province,Nanchang,Jiangxi 330006,China)

机构地区：[1]江西省妇幼保健院医学遗传中心,江西南昌330006

出　　处：《中国妇幼保健》2024年第23期4735-4739,共5页Maternal and Child Health Care of China

基　　金：江西省出生缺陷防控重点实验室建设项目(20202BCD42017);江西省卫健委普通科技计划项目(220210887)。

摘　　要：目的分析并比较近2015—2021年在江西省妇幼保健院进行脐静脉穿刺(PUBS)的病例资料,探讨PUBS在医院的构成变化及未来发展方向。方法回顾性收集2015年1月—2021年12月在江西省妇幼保健院通过PUBS取材进行产前诊断的病例,分析7年来PUBS病例一般资料、取材孕周、穿刺成功率、穿刺并发症、细胞培养成功率、PUBS指征、检测结果及妊娠结局。采用单因素方差分析、R×C列联表χ2检验、Fisher精确概率法、线性趋势χ2检验对数据进行分析。结果①共计1243例病例进行了PUBS,平均年龄(28.62±5.15)岁(15~47岁),平均孕周27.67±2.85(16~36周),成功穿刺1237例,成功率为99.52%;细胞培养成功1221例,成功率为98.23%;检出异常核型120例,异常核型检出率为9.70%,包括常染色体非整倍体改变43例(35.83%),性染色体非整倍体改变7例(5.83%),平衡易位9例(7.50%),CNVs 50例(41.67%),嵌合体12例(10.00%);②分析一般资料年度变化趋势发现:穿刺年龄呈现逐年下降趋势,穿刺孕周呈现逐年上升趋势;穿刺成功率和细胞培养成功率逐年增长,而穿刺并发症发生率及异常核型检出率逐年降低。异常核型检出率下降以常染色体非整倍体改变检出率下降为主(均P<0.05);③分析各穿刺指征年度变化趋势发现:因高龄(163例/13.11%)、唐筛异常(35例/2.82%)、其他指征(包括既往不良孕产史,父母双方之一染色体异常或单基因携带,羊水核型异常,巨细胞病毒阳性等,56例/4.51%)等行脐血穿刺病例呈逐年下降趋势(P<0.05),而因B超异常(1124例/90.43%)行脐血穿刺病例呈逐年上升趋势(P<0.05);因单一指标行PUBS病例呈逐年上升趋势,因多个指标行PUBS病例呈逐年渐下降趋势(P<0.05)。④将细胞培养成功的1221例病例,根据穿刺指征分组,发现各组中异常核型检出构成比分别为:高龄(16.35%)、唐筛异常(14.71%)、NIPT异常(37.5%)、超声异常(8.49%)及其他(包括不良生育史、父母�Objective By analyzing and comparing the data of umbilical venipesis patients in our hospital during the recent 7 years,we explore the change from our hospital and the future development direction of umbilical venipesis.Methods A total of patients about PUBS in Jiangxi Provincial Hospital of Maternal and Child Health from January 2015 to December 2021 were retrospectively collected.The correlation between clinical data and test results of PUBS cases in 7 years was analyzed.Results①A total of 1243 patients PUBS during the study period,and 1237 patients were successfully punctured,the puncture success rate was 99.52%.1221 cases were cultured successfully,the success rate of cell culture was 98.23%.120 cases of abnormal karyotype were detected,and the detection rate was 9.70%;②The number of umbilical cord blood biopsy cases decreased year by year due to old age(163/13.11%),tang screen abnormality(35/2.82%),and the cases of umbilical cord blood puncture due to abnormal B-ultrasound(1124/90.43%)showed an increasing trend year by year(P<0.05);③According to the puncture indications,it was found that the proportion of abnormal karyotype detection in each group was as follows:Advanced age(16.35%),tang sieve abnormality(14.71%),NIPT abnormality(37.5%),ultrasound abnormality(8.49%)and others(including adverse birth history,parental chromosome abnormality and single gene carrying,etc,13.21%).NIPI group had the highest detection rate of abnormal karyotype and the abnormal karyotype detection rate was the lowest(P<0.05);④The detection rate of abnormal karyotype in the ultrasonic abnormal group was 6.94%,and the detection rate of abnormal karyotype in the ultrasonic combined with other indications was 17.06%,indicating a statistical difference between the two groups(P<0.05);⑤A total of 937 cases of simple ultrasonic abnormalities were divided into four groups:soft ultrasound index,abnormal ultrasound structure,fetal intrauterine growth retardation,and other ultrasonic abnormalities.The number of abnormal karyotypes de

关 键 词：脐静脉穿刺 染色体异常 染色体微阵列分析 产前诊断 

分 类 号：R714[医药卫生—妇产科学]