泌尿系统异常胎儿的产前诊断及妊娠结局分析  

The prenatal diagnosis and pregnancy outcome of fetuses with anomalies of the kidney and urinary tract

作　　者：任菊霞 徐盈 黎昱 郑娇 宋婷婷 REN Juxia;XU Ying;LI Yu;ZHENG Jiao;SONG Tingting(Department of Obstetrics and Gynecology,the First Affiliated Hospital of Air Force Medical University,Xi’an,Shaanxi 710032,China)

机构地区：[1]空军军医大学第一附属医院妇产科,陕西西安710032

出　　处：《中国优生与遗传杂志》2024年第3期523-527,共5页Chinese Journal of Birth Health & Heredity

基　　金：西安市创新能力强基计划-医学研究项目(22YXYJ0151)。

摘　　要：目的探讨泌尿系统异常胎儿的产前诊断方案及妊娠结局,为孕妇临床遗传咨询及妊娠指导提供依据。方法回顾性分析2018年1月至2022年12月于空军军医大学第一附属医院因胎儿泌尿系统异常接受介入性产前诊断的265例单胎病例的染色体微阵列分析(CMA)及常规G显带染色体核型分析结果,超声检查定期复查胎儿的发育情况,并电话随访妊娠结局,观察胎儿出生后的生长发育情况。结果在265例泌尿系统异常胎儿中检出明确致病性染色体非整倍体及拷贝数异常11例(4.15%,11/265),非整倍体3例,其余致病性异常均为拷贝数变异;此外,检出可能致病性异常7例,意义不明确8例;超声提示肾实质回声增强胎儿中染色体异常检出率最高,为20.00%(4/20),肾囊肿胎儿中染色体异常检出率为9.09%(1/11),多囊性发育不良肾胎儿中染色体异常检出率为4.23%(3/71),肾积水胎儿中染色体异常检出率为2.86%(1/35);对265例泌尿系统异常胎儿进行电话随访,最终随访到229例,失访36例。结论泌尿系统异常尤其是超声提示实质回声增强的胎儿染色体异常的风险增高,应用CMA对泌尿系统异常胎儿进行产前诊断能够提高致病性异常检出率,降低出生缺陷率。Objective To explore the prenatal diagnosis strategy and pregnancy outcome of the fetuses with anomalies of the kidney and urinary tract,and to provide evidence for clinical genetic counseling and pregnancy guidance.Methods Chromosomal microarray analysis(CMA)analysis and chromosomal G-banding karyotype results of 265 singleton cases who received interventional prenatal diagnosis for fetal with anomalies of the kidney and urinary tract between January 2018 and December 2022 at the first affiliated hospital of air force medical university were retrospectively analyzed.Chromosomal microarray analysis(CMA)analysis and chromosomal G-banding karyotype were performed for all cases.The development of the fetus was observed regularly by ultrasonic examination,and the pregnancy outcome and the growth and development of the fetus after birth were followed up by telephone.Results Among 265 fetuses with anomalies of the kidney and urinary tract,there were 11 cases(4.15%,11/265)with pathogenic chromosome abnormalities,3 cases of chromosome aneuploidy,the remaining 8 cases with pathogenic copy number variations.In addition,7 cases with likely pathogenic copy number variations and 8 cases with variants of unknown significance were detected.The detection rate of chromosomal abnormality was the highest in fetuses with renal parenchymal echo enhancement,which was 20.00%(4/20).The detection rate of chromosome abnormality in the fetus with renal cyst was 9.09%(1/11).Polycystic dysplasia of the kidney was 4.23%(3/71),hydronephrosis was 2.86%(1/35).265 fetuses with anomalies of the kidney and urinary tract were followed up by telephone.229 fetuses were followed up and 36 were lost.Conclusion The anomalies of the kidney and urinary tract,especially fetuses with renal enhanced parenchymal echo have an increased risk of chromosomal abnormalities.The application of CMA in prenatal diagnosis of fetuses with anomalies of the kidney and urinary tract can impore the detection rate of pathogenic abnormalities and reduce the rate of birth defec

关 键 词：产前诊断 染色体微阵列分析 泌尿系统异常 拷贝数变异 

分 类 号：R714.5[医药卫生—妇产科学]