Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, Texas, USA.
Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas, USA.
Am J Med Genet A. 2021 Jun;185(6):1787-1793. doi: 10.1002/ajmg.a.62175. Epub 2021 Mar 22.
Few population-based studies have analyzed patterns of co-occurring birth defects among those with trisomy 13. We evaluated the frequency of all possible combinations of any one, two, three, or four additional co-occurring birth defects among 736 individuals with trisomy 13 using data from the Texas Birth Defects Registry for deliveries during 1999-2014. We calculated the observed-to-expected ratio for each combination, adjusting for the known tendency for birth defects to cluster non-specifically. To address potential ascertainment differences among live births and non-live births, we repeated analyses specifically among live births. The combination of defects with the largest observed-to-expected ratio was microcephalus, reduction deformities of brain (e.g., holoprosencephaly), anomalies of nose, and polydactyly. As expected, most of the highest 30 observed-to-expected ratios involved combinations with documented features of trisomy 13, including defects of the scalp (e.g., aplasia cutis) and heart. Results were similar among sensitivity analyses restricted to live births. Our findings may help further delineate the phenotypic spectrum for trisomy 13 and may inform future research related to improving screening and counseling for the condition.
基于人群的研究很少分析三体 13 患者中同时存在的多种出生缺陷的模式。我们利用 1999 年至 2014 年德克萨斯州出生缺陷登记处的分娩数据，评估了 736 例三体 13 患者中任何一种、两种、三种或四种额外同时存在的出生缺陷的所有可能组合的频率。我们计算了每种组合的观察到的与预期的比值，同时调整了已知的出生缺陷非特异性聚集的倾向。为了解决活产儿和非活产儿之间潜在的检出差异，我们专门在活产儿中重复了分析。观察到的与预期比值最大的缺陷组合是小头畸形、脑的缩减畸形（例如全前脑）、鼻畸形和多指畸形。正如预期的那样，大多数前 30 个观察到的与预期比值最高的组合都涉及到有文献记载的三体 13 特征的缺陷，包括头皮缺陷（例如头皮发育不全）和心脏缺陷。在仅限于活产儿的敏感性分析中，结果相似。我们的发现可能有助于进一步描绘三体 13 的表型谱，并为未来与改善该病症的筛查和咨询相关的研究提供信息。
