Maternal pregestational diabetes mellitus is associated with an increased risk for congenital malformations of about 2–4 times the background risk. Notably, the types and patterns of congenital malformations associated with maternal diabetes are nonrandom, with a well‐established increased risk for specific classes of malformations, especially of the heart, central nervous system, and skeleton. While the increased risk in clinical and epidemiological studies is well documented in the literature, a precise estimate of overall birth prevalence of these specific congenital malformations among women with maternal pregestational diabetes, is lacking. The purpose of this study was to determine total prevalence of structural malformations associated with maternal pregestational diabetes mellitus in a population‐based study. We identified infants with specific birth defects whose mother had pregestational diabetes mellitus in the Utah Birth Defect Network (UBDN), an active birth defects surveillance program that registers the occurrence of selected structural defects in the state of Utah. We defined specific maternal diabetes‐related malformations based on epidemiologic and clinical studies in the literature. Of the 825,138 recorded Utah births between 2001 and 2016, a total of 91 cases were identified as likely having diabetic embryopathy within UBDN data. The prevalence of diabetes‐related congenital malformation cases was calculated per year; the overall prevalence of diabetes‐related malformations 2001–2016 was 1.1 per 10,000 births in Utah (95% CI, 0.9–1.3). Knowledge of the overall prevalence of diabetes‐related malformations is important in predicting the number of cases that are potentially prevented with the implementation of programs to foster preconceptional management of maternal pregestational diabetes.

中文翻译：

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犹他州孕产妇糖尿病相关畸形：2001-2016 年出生率的人口研究

母亲孕前糖尿病与先天性畸形的风险增加有关，大约是背景风险的 2-4 倍。值得注意的是，与母体糖尿病相关的先天性畸形的类型和模式是非随机的，特定类别畸形的风险增加，尤其是心脏、中枢神经系统和骨骼畸形。虽然临床和流行病学研究中风险增加的情况在文献中有详细记载，但缺乏对孕前糖尿病妇女中这些特定先天性畸形的总体出生率的准确估计。本研究的目的是在一项基于人群的研究中确定与母亲孕前糖尿病相关的结构畸形的总患病率。我们在犹他州出生缺陷网络 (UBDN) 中确定了母亲患有孕前糖尿病的特定出生缺陷婴儿，该网络是一项活跃的出生缺陷监测计划，用于记录犹他州发生的特定结构缺陷的发生情况。我们根据文献中的流行病学和临床研究定义了特定的母体糖尿病相关畸形。在 2001 年至 2016 年间记录的 825,138 例犹他州出生中，共有 91 例被确定为可能在 UBDN 数据中患有糖尿病胚胎病。每年计算糖尿病相关先天性畸形病例的患病率；2001-2016 年犹他州糖尿病相关畸形的总体患病率为每 10,000 名新生儿 1.1 例（95% CI，0.9-1.3）。