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Isolated Balanced Complete Atrioventricular Septal Defects: Prenatal Detection and Outcome in Nevada
Clinical Pediatrics ( IF 1.6 ) Pub Date : 2022-07-31 , DOI: 10.1177/00099228221114933
William N Evans 1, 2 , Ruben J Acherman 1, 2 , Michael L Ciccolo 1, 3 , Juan Lehoux 1 , Humberto Restrepo 1, 2
Affiliation  

We analyzed patients with isolated, balanced complete atrioventricular septal defects. We identified 71 patients born in Nevada, between January 2008 and December 2020. We also analyzed prenatal detection rates. Of the 71, 61 (85%) had trisomy 21, 1 (1%) had CHARGE syndrome and 22q.11 deletion, and 10 (14%) had no chromosomal abnormalities. Of the 71, 67 had prenatal care, and 43/67 (64%) were prenatally diagnosed. Prenatal detection rate for 2008-2012 was 9/20 (45%) and 18/21 (86%) for 2018-2020, P = .03. Of the 71, 67 underwent surgical repair with 1 current postpulmonary artery banding and 0 surgical deaths. Of the 67, 3 (4%) had heart block. Only 1 (1.5%) patient had reoperation for a mitral valve replacement. Of the 71, 67 (94%) are alive during a 6-year average (range = 0-12 years) follow-up. In conclusion, surgical and long-term outcomes were excellent. Also, high state-wide, general population prenatal detection rates were achieved.



中文翻译:

独立平衡的完全性房室间隔缺损:内华达州的产前检测和结果

我们分析了孤立的、平衡的完全性房室间隔缺损患者。我们确定了 2008 年 1 月至 2020 年 12 月期间在内华达州出生的 71 名患者。我们还分析了产前检出率。在 71 人中,61 人 (85%) 有 21 三体,1 人 (1%) 有 CHARGE 综合征和 22q.11 缺失,10 人 (14%) 没有染色体异常。在 71 人中,67 人进行了产前检查,43/67 (64%) 人进行了产前诊断。2008-2012 年产前检出率为 9/20 (45%),2018-2020 年为 18/21 (86%),P= .03。在这 71 人中,67 人接受了手术修复,目前有 1 人肺动脉后结扎,0 人手术死亡。在 67 人中,3 人 (4%) 患有心脏传导阻滞。只有 1 名 (1.5%) 患者因二尖瓣置换术而再次手术。在平均 6 年(范围 = 0-12 年)的随访期间,71 人中有 67 人 (94%) 还活着。总之,手术和长期结果非常好。此外,在全州范围内实现了较高的一般人群产前检出率。

更新日期:2022-07-31
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