Gastroschisis and omphalocele are the two most common abdominal wall birth defects, and epidemiologic characteristics and frequency of occurrence as part of a syndromic condition suggest distinct etiologies between the two defects. We assessed complex patterns of defect co‐occurrence with these defects separately using the Texas Birth Defects Registry. We used co‐occurring defect analysis (CODA) to compute adjusted observed‐to‐expected (O/E) ratios for all observed birth defect patterns. There were 2,998 non‐syndromic (i.e., no documented syndrome diagnosis identified) cases with gastroschisis and 789 (26%) of these had additional co‐occurring defects. There were 720 non‐syndromic cases with omphalocele, and 404 (56%) had additional co‐occurring defects. Among the top 30 adjusted O/E ratios for gastroschisis, most of the co‐occurring defects were related to the gastrointestinal system, though cardiovascular and kidney anomalies were also present. Several of the top 30 combinations co‐occurring with omphalocele appeared suggestive of OEIS (omphalocele, exstrophy of cloaca, imperforate anus, spinal defects) complex. After the exclusion of additional cases with features suggestive of OEIS in a post‐hoc sensitivity analysis, the top combinations involving defects associated with OEIS (e.g., spina bifida) were no longer present. The remaining top combinations involving omphalocele included cardiovascular, gastrointestinal, and urogenital defects. In summary, we identified complex patterns of defects that co‐occurred more frequently than expected with gastroschisis and omphalocele using a novel software platform. Better understanding differences in the patterns between gastroschisis and omphalocele could lead to additional etiologic insights.

中文翻译：

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与非综合征性腹裂和脐膨出同时发生的出生缺陷。

腹裂和脐膨出是两种最常见的腹壁出生缺陷，流行病学特征和作为综合征状况的一部分的发生频率表明这两种缺陷之间存在不同的病因。我们使用德克萨斯出生缺陷登记处分别评估了与这些缺陷同时发生的复杂模式。我们使用共发生缺陷分析 (CODA) 来计算所有观察到的出生缺陷模式的调整后观察到预期 (O/E) 比率。有 2,998 例非综合征（即未确定的综合征诊断）病例患有胃裂，其中 789 例 (26%) 有额外的共病缺陷。有 720 例非综合征病例有脐膨出，404 例 (56%) 有额外的共发生缺陷。在胃裂的前 30 个调整后的 O/E 比率中，大多数同时发生的缺陷与胃肠系统有关，但也存在心血管和肾脏异常。与脐膨出共同发生的前 30 种组合中的几种似乎提示 OEIS（脐膨出、泄殖腔外翻、肛门闭锁、脊柱缺损）复合体。在事后敏感性分析中排除了具有提示 OEIS 特征的其他病例后，与 OEIS 相关的缺陷（例如脊柱裂）的主要组合不再存在。其余涉及脐膨出的顶级组合包括心血管、胃肠道和泌尿生殖系统缺陷。总而言之，我们使用新的软件平台确定了复杂的缺陷模式，这些模式与胃裂和脐膨出的共同发生频率高于预期。