胎儿泌尿系畸形介入性产前诊断

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56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 (polymerase chain reaction,PCR)方法检测TORCH宫内感染.结果①5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(rubella virus,RV)感染2例,弓形体(toxoplasma,TOX)感染2例,单纯疱疹病毒 (herpes simplex virus,HSV)感染2例,宫内TORCH感染发生率为19.64%.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.

Interventional prenatal diagnosis on the fetal urinary anomalies

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.