Department of Epidemiology, Human Genetics, and Environmental Science, UTHealth School of Public Health, Austin, Texas, USA.
Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas, USA.
Birth Defects Res. 2023 Jan 1;115(1):21-25. doi: 10.1002/bdr2.1990. Epub 2022 Feb 26.
Because the etiology and outcomes of birth defects may differ by the presence vs. absence of co-occurring anomalies, epidemiologic studies often attempt to classify cases into isolated versus non-isolated groupings. This report describes a computer algorithm for such classification and presents results using data from the Texas Birth Defects Registry (TBDR).
Each of the 1,041 birth defects coded by the TBDR was classified as chromosomal, syndromic, minor, or "needs review" by a group of three clinical geneticists. A SAS program applied those classifications to each birth defect in a case (child/fetus), and then hierarchically combined them to obtain one summary classification for each case, adding isolated and multiple defect categories. The program was applied to 136,121 cases delivered in 2012-2017.
Of total cases, 49% were classified by the platform as isolated (having only one major birth defect). This varied widely by birth defect; of those examined, the highest proportion classified as isolated was found in pyloric stenosis (87.6%), whereas several cardiovascular malformations had low proportions, including tricuspid valve atresia/stenosis (2.3%).
This is one of the first and largest attempts to identify the proportion of isolated cases across a broad spectrum of birth defects, which can inform future epidemiologic and genomic studies of these phenotypes. Our approach is designed for easy modification for use with any birth defects coding system and category definitions, allowing scalability for different studies or birth defects registries, which often do not have resources for individual clinical review of all case records.
由于出生缺陷的病因和结局可能因是否伴有并发异常而有所不同，因此流行病学研究通常试图将病例分为孤立型和非孤立型。本报告描述了一种用于此类分类的计算机算法，并使用来自德克萨斯州出生缺陷登记处（TBDR）的数据展示了结果。
TBDR 编码的 1041 种出生缺陷中的每一种都由一组三名临床遗传学家分类为染色体、综合征、轻微或“需要审查”。SAS 程序将这些分类应用于病例（儿童/胎儿）中的每一种出生缺陷，然后按层次组合它们，为每个病例获得一个总结分类，增加孤立和多种缺陷类别。该程序应用于 2012-2017 年期间出生的 136121 例病例。
总病例中，49%的病例被平台分类为孤立型（仅有一种主要出生缺陷）。这在不同的出生缺陷中差异很大；在所检查的病例中，被分类为孤立型的比例最高的是幽门狭窄（87.6%），而几种心血管畸形的比例较低，包括三尖瓣闭锁/狭窄（2.3%）。
这是首次也是最大规模的尝试之一，旨在确定广泛的出生缺陷中孤立型病例的比例，这可以为这些表型的未来流行病学和基因组学研究提供信息。我们的方法旨在易于修改，适用于任何出生缺陷编码系统和类别定义，允许针对不同的研究或出生缺陷登记处进行扩展，这些登记处通常没有资源对所有病例记录进行个别临床审查。
