胎儿泌尿系畸形介入性产前诊断  

Interventional prenatal diagnosis on the fetal urinary anomalies.

作　　者：冯穗华[1] 方群[2] 杜涛[2] 谢红宁[2] 陈宝江[2] 陈健生[2] 

机构地区：[1]广东省江门市中心医院妇产科,江门529000 [2]中山大学附属第一医院妇产科,广州510080

出　　处：《中国优生与遗传杂志》2005年第3期85-87,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的　探讨胎儿泌尿系畸形的发生与染色体异常、宫内感染的关系。方法　在超声介导下对 5 6例泌尿系畸形胎儿抽取脐带血行染色体核型分析 ,同时采用多聚酶联反应 (polymerasechainreaction ,PCR)方法检测TORCH宫内感染。结果　① 5例胎儿染色体异常 ,染色体异常率为 8.93% ,除 1例异常核型为单纯泌尿系畸形外 ,其余 4例均合并有其他器官异常 ;②胎儿脐血检测发现巨细胞病毒 (cytomegalovirus ,CMV)感染 5例 ,风疹病毒 (rubellavirus ,RV)感染 2例 ,弓形体 (toxoplasma ,TOX)感染 2例 ,单纯疱疹病毒 (herpessimplexvirus ,HSV)感染 2例 ,宫内TORCH感染发生率为 1 9.6 4 %。结论　染色体异常是引起胎儿泌尿系畸形的重要原因之一 ,对所有泌尿系统畸形胎儿应行染色体核型分析 ;而某些宫内感染 ,尤其是CMV感染 ,可能引发胎儿泌尿系统畸形。Objective: To investigate the relationship between chromosomal anormalies, intrauterine TORCH infection and the fetal urinary anomalies. Methods: Cordocentesis was performed on 56 fetuses with urinary anomalies. Chromosomal karyotypes, TORCH infections were analyzed in all fetal blood samples. Results: Of 56 cases, five abnormal Chromosomal karyotypes were found. Among them, four were associated with multiple malformations. In TORCH infection detection, there were five cytomegalovirus (CMV) -DNA positive, two rubella virus (RV) -RNA positive, two toxoplasma (TOX)-DNA positive and two herpes simplex virus (HSV)-DNA positive. Conclusion: It is necessary to analyze the chromosomal karyotype for those fetuses with urinary tract anomalies. Some of intrauterine infection, especially CMV infection, may cause fetal urinary tract anomalies.

关 键 词：胎儿 泌尿系畸形 产前诊断 染色体 宫内感染 

分 类 号：R714.55[医药卫生—妇产科学]