Abstract：
To estimate if there is an association between partial AVSD with chromosomal abnormalities, cardiac and extracardiac malformations, and to report the outcomes of prenatally diagnosed AVSD in a large, contemporary cohort. This is a retrospective cohort study of 190 prenatally diagnosed fetal AVSD between 2014 and 2023. Type of AVSD (complete vs partial), additional cardiac findings, extracardiac findings, presence of a heterotaxy, results of prenatal karyotype, and pregnancy outcomes were documented and analyzed. A total of 190 cases of fetal AVSD were analyzed. Complete AVSDs comprised 141 (74.2%) of the cohort, while partial AVSDs comprised 49 (25.7%). Karyotype was completed in 131 cases, and in 98 (74.8%) cases chromosomal abnormalities were identified, with trisomy 21 being the most common (53/131, 40.5%). Complete AVSDs were associated with trisomy 21 (45.5%, p = 0.04), Isolated cases of complete AVSDs (p = 0.03). Partial AVSDs were associated with trisomy 18 (53.1%, p < 0.001). In cases of partial AVSDs with aneuploidies, 7 (70%) had an ostium primum defect and 20 (90.9%) of AV canal type VSD. Isolated partial AVSD had no clear association with aneuploidies. There were additional cardiac anomalies in 96 (50.5%) and extracardiac anomalies in 134 (70.5%) of the cohort. There were no differences between partial and complete AVSD in rate of additional cardiac and extracardiac anomalies. AVSD was part of a heterotaxy in 47 (24.7%) of cases, and heterotaxy was associated with complete AVSD in the majority of cases (43/47, 91.4%, p = 0.003). Fetal partial AVSDs are associated with trisomy 18. Fetal complete AVSDs, even isolated, are associated with trisomy 21. There were no differences in association of other aneuploidies, additional cardiac findings, or extracardiac anomalies between prenatally diagnosed complete AVSDs and partial AVSDs.
摘要：
为了估计部分AVSD与染色体异常之间是否存在关联，心脏和心外畸形,并报告产前诊断的AVSD的结果，当代队列。这是2014年至2023年间190例产前诊断胎儿AVSD的回顾性队列研究。AVSD类型（完整与部分），额外的心脏发现，心外发现，异质体的存在，产前核型结果，记录和分析妊娠结局.共分析190例胎儿AVSD。完整的AVSD占队列的141（74.2％），而部分AVSD占49例（25.7%）。131例完成核型，98例(74.8%)染色体异常被发现，21三体是最常见的（53/131，40.5%）。完全AVSD与21三体相关(45.5%，p=0.04),孤立的病例完全AVSDs（p=0.03）。部分AVSD与18三体相关(53.1%，p<0.001)。在具有非整倍体的部分AVSD的情况下，7例（70％）有耳鼻孔原发性缺陷，20例（90.9％）有房室管型VSD。分离的部分AVSD与非整倍性没有明显的关联。队列中有96例（50.5％）的心脏异常和134例（70.5％）的心外异常。部分和完全AVSD在其他心脏和心外异常的发生率之间没有差异。在47例（24.7％）的病例中，AVSD是异位的一部分，在大多数情况下，异位与完全AVSD相关（43/47，91.4％，p=0.003)。胎儿部分AVSD与18三体相关。胎儿完全性AVSD,即使是孤立的,与21三体有关。其他非整倍体的关联没有差异，额外的心脏发现，或产前诊断的完全AVSD和部分AVSD之间的心外异常。
