【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χ~2检验、Fisher精确概率法、线性趋势χ~2检验对数据进行分析。结果 (1)共计1 243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1 237例，成功率为99.52%;细胞培养成功1 221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(1 124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1 221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、父母染色体异常和单基因携带等，13.21%),其中NIPI组中，异常核型检出率最高(37.5%),超声异常组中，异常核型检出率最低(8.49%);在超声异常组中，单纯超声异常组异常核型检出率为6.94%,超声合并其他指征异常核型检出率为17.06%,两组异常核型检出率比较差异有统计学意义(P<0.05);(5)将937例单纯超声异常分为超声软指标、超声结构异常、胎儿宫内发育迟缓、其他超声异常(胎儿水肿、羊水过多、羊水过少等)4组，发现，各组异常核型检出例数分别为：25例(4.80%)、33例(9.38%)、1例(4.00%)、6例(15.38%),各组异常核型检出率比较差异有统计学意义(P<0.05)。结论 脐静脉穿刺是一种成熟的产前诊断的技术，并发症发生率较低，但存在风险，随着分子诊断技术的进步，脐血穿刺行核型诊断逐渐被羊水穿刺取代，未来脐血的发展方向应着重与胎儿贫血诊断、胎儿宫内感染诊断和治疗方面。更多还原

【Abstract】 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.Results(1) A total of 1 243 patients PUBS during the study period, and 1 237 patients were successfully punctured, the puncture success rate was 99.52%.1 221 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%;(2)The 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(1 124/90.43%) showed an increasing trend year by year(P<0.05);(3)According 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);(4)The 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);(5)A 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 detected in each group was as follows: There were 25 case(4.80%), 33 case(9.38%), 1 case(4.00%) and 6 case(15.38%) abnormal karyotypes in each group(P<0.05).Conclusion Umbilical vein puncture is a kind of mature prenatal diagnosis technology with a lower incidence of complications, but there are risks.With the progress of molecular diagnostic techniques, umbilical cord blood karyotype of piercing line diagnosis was gradually replaced by an amniocentesis.The attention about the future development direction of umbilical cord blood should be paid to fetal anemia diagnosis, fetal intrauterine infection, diagnosis and treatment.更多还原