摘要目的：探讨胎儿完全型房室间隔缺损（ CAVSD）的病理解剖特征、分型、合并畸形及遗传学特征。方法收集北京市海淀区妇幼保健院2003年1月至2015年1月35例中晚期引产的CAVSD胎儿，回顾其尸体解剖资料、临床病史及染色体检查结果，并复习相关文献。结果35例孕18～38周CAVSD的胎儿中，26例为CAVSD A型（74．3％，26／35），1例CAVSD B型（2．8％，1／35），8例CAVSD C型（22．8％，8／35）。4例为单纯CAVSD畸形（11．4％，4／35），31例CAVSD并发其他畸形（88．6％，31／35），累及系统主要为循环、呼吸、运动系统。15例行染色体检查的胎儿中，13例有染色体异常（13／15），其中11例为21－三体（11／15）。结论 CAVSD是一种罕见且复杂的先天性心脏畸形，以CAVSD A型最常见。 CAVSD常合并其他畸形，多伴发染色体异常。

abstractsObjective To investigate the autopsy characteristics,pathologic type, malfomation and genetic characteristics of complete atrioventricular septal defect ( CAVSD) .Methods Thirty five cases of CAVSD were collected from Maternal and Child Hospital of Haidian District during Jan.2003 to Jan.2015. Autoptic material, clinical history and chromosome examination were reviewed.Results Among 35 cases of CAVSD between 18-38 gestational weeks, there were 26 cases with CAVSD A (74.3%,26/35), 1 case with CAVSD B(2.8%,1/35) and 8 cases with CAVSD C (22.8%,8/35).Only CAVSD malformation was seen in 4 cases(11.4%,4/35).Multiple malformations were seen in 31 cases(88.6%,31/35).Combined malformations most frequently occurred in cardiovascular, respiratory and locomotor system.Among 15 cases with chromosome examination, chromosome aberrations was found in 13 cases(13/15) and trisomy-21was found in 11 cases ( 11/15 ) .Conclusions CAVSD is a rare disease and CAVSD A is the most common type.CAVSD is usually combined with other malformations and chromosome aberrations.