目的探讨人巨细胞病毒（ＨＣＭＶ）宫内感染与先天性畸形的关系，并确定巨细胞病毒感染的组织细胞类型。方法利用聚合酶链反应（ＰＣＲ）技术，对近８年来我院尸检畸形儿４１例（畸形组）及同期尸检非畸形儿１９例（对照组）进行了主要脏器的ＨＣＭＶ检测，对部分ＰＣＲ阳性的组织标本，用原位杂交技术（ＩＳＨ）确定ＨＣＭＶ易感组织细胞类型。结果畸形组ＨＣＭＶ阳性率为４６．３４％（１９／４１），对照组阳性率为５．２６％（１／１９），两者相比差异有显著性；畸形组中ＨＣＭＶ脏器阳性率为２０．４６％（３５／１７１），而对照组仅有１份肺组织呈ＨＣＭＶ阳性，阳性率为１．２８％（１／７８），两者相比差异有极显著性；ＨＣＭＶ感染在消化系统畸形中更多见，但各系统畸形阳性率差异无显著性；畸形儿脑组织中ＨＣＭＶ阳性率最高（４１．３８％，１２／２９），与其他组织相比，差异有显著性；ＰＣＲ阳性的１７份标本中仅６份ＩＳＨ阳性，位于脑组织的神经元细胞、神经胶质细胞、肾小管上皮细胞及部分间质细胞、肺上皮细胞等。结论ＨＣＭＶ宫内感染与先天性畸形密切相关；脑是ＨＣＭＶ最易侵犯的器官；ＰＣＲ与ＩＳＨ结合用于ＨＣＭＶ的诊断，既敏感，又能够进行组织细胞定位 Objective To investigate the relationship between human cytomegalovirus (HCMV) intrauterine infection and congenital malformation and to determine the type of cytomegalovirus infected tissue. Methods Polymerase chain reaction (PCR) technique was used to detect HCMV in 41 cases (normal group) and 19 cases (control group) of abnormal autopsy in autopsy in our hospital in recent 8 years. Positive tissue samples were identified by HCMV susceptible tissue cell types by in situ hybridization (ISH). Results The positive rate of HCMV in deformity group was 46.34% (19/41), while the positive rate in control group was 5.26% (1/19), the difference was significant 20.46% (35/171), while only 1 of the control group was HCMV positive, the positive rate was 1.28% (1/78), the difference between the two was extremely significant; HCMV infection in digestion There was no significant difference in the positive rate of abnormality in each system. The positive rate of HCMV in the brain of malformed children was the highest (41.38%, 12/29), which was significantly different from other tissues. PCR Among the 17 positive samples, only 6 positive ISH neurons, glial cells, renal tubular epithelial cells, interstitial cells, lung epithelial cells and so on were positive in ISH. Conclusion Intrauterine infection of HCMV is closely related to congenital malformations. Brain is the most vulnerable organ for HCMV infection. PCR combined with ISH can be used to diagnose HCMV, which is both sensitive and capable of tissue cell localization