Department of Epidemiology, Human Genetics, and Environmental Sciences, UTHealth School of Public Health, Houston, Texas, USA.
Department of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Am J Med Genet A. 2023 Jan;191(1):190-204. doi: 10.1002/ajmg.a.63014. Epub 2022 Oct 26.
Structural birth defects that occur in infants with syndromes may be etiologically distinct from those that occur in infants in whom there is not a recognized pattern of malformations; however, population-based registries often lack the resources to classify syndromic status via case reviews. We developed criteria to systematically identify infants with suspected syndromes, grouped by syndrome type and level of effort required for syndrome classification (e.g., text search). We applied this algorithm to the Texas Birth Defects Registry (TBDR) to describe the proportion of infants with syndromes delivered during 1999-2014. We also developed a bias analysis tool to estimate the potential percent bias resulting from including infants with syndromes in studies of risk factors. Among 207,880 cases with birth defects in the TBDR, 15% had suspected syndromes and 85% were assumed to be nonsyndromic, with a range across defect types from 28.5% (atrioventricular septal defects) to 98.9% (pyloric stenosis). Across hypothetical scenarios varying expected parameters (e.g., nonsyndromic proportion), the inclusion of syndromic cases in analyses resulted in up to 50.0% bias in prevalence ratios. In summary, we present a framework for identifying infants with syndromic conditions; implementation might harmonize syndromic classification across registries and reduce bias in association estimates.
在患有综合征的婴儿中发生的结构出生缺陷可能与在没有公认畸形模式的婴儿中发生的结构出生缺陷在病因上有所不同；然而，基于人群的登记处通常缺乏通过病例审查来对综合征状态进行分类的资源。我们制定了标准，通过综合征类型和综合征分类所需的努力程度（例如，文本搜索）对疑似患有综合征的婴儿进行分类。我们将此算法应用于德克萨斯州出生缺陷登记处（TBDR），以描述 1999-2014 年期间分娩的患有综合征的婴儿的比例。我们还开发了一种偏倚分析工具，以估计由于将患有综合征的婴儿纳入危险因素研究而导致的潜在百分比偏倚。在 TBDR 中，有 207880 例患有出生缺陷的病例中，有 15%的婴儿患有疑似综合征，85%的婴儿被认为是非综合征性的，各种缺陷类型的范围从 28.5%（房室间隔缺损）到 98.9%（幽门狭窄）。在不同预期参数（例如，非综合征性比例）的假设情况下，将综合征病例纳入分析会导致流行率比的偏差高达 50.0%。总之，我们提出了一种识别患有综合征的婴儿的框架；实施可能会使综合征分类在各登记处之间协调一致，并减少关联估计中的偏差。
