Cleves Mario A, Hobbs Charlotte A, Cleves Phillip A, Tilford John M, Bird T M, Robbins James M
Arkansas Center for Birth Defects Research and Prevention, Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, and Arkansas Children's Hospital, Little Rock, Arkansas 72202, USA.
Birth Defects Res A Clin Mol Teratol. 2007 Sep;79(9):657-63. doi: 10.1002/bdra.20393.
Many infants with Down syndrome (DS) have co-occurring congenital malformations requiring intensive surgical and medical management. To anticipate the care needed by these infants, providers and parents require accurate information about birth defects that may be present. This article uses a unique national hospital discharge dataset to identify the rate at which structural birth defects are identified among liveborn infants with DS.
ICD-9-CM diagnosis codes for data from the Healthcare Cost and Utilization Project were used to identify infants with and without DS, and to classify birth defects. The study population consisted of liveborn infants discharged from the hospital from 1993 through 2002. ORs for the association between the occurrence of congenital malformations and the presence of DS were computed using logistic regression models for survey data.
Discharge data included 11,372 DS and 7,884,209 non-DS births, representing national estimates of 43,463 DS and 39,716,469 non-DS births respectively. In addition to congenital heart defects that co-occurred most often in DS infants compared to infants without DS, the risks for gastrointestinal malformations (OR 67.07), genitourinary malformations (OR 3.62), orofacial malformations (OR 5.63), and abdominal wall malformations (OR 3.25) were also elevated in infants with DS. There was no difference in the risk of spina bifida between infants with and without DS.
This is the first nationally representative compilation of the co-occurrence of congenital malformations associated with DS. This information may assist providers and parents in their attempts to understand and prepare for the true burden of this condition.
许多唐氏综合征（DS）患儿伴有先天性畸形，需要 intensive 手术和药物治疗。为了预测这些患儿所需的护理，医护人员和家长需要了解可能存在的出生缺陷的准确信息。本文使用了一个独特的全国医院出院数据集，以确定活产 DS 患儿中结构出生缺陷的识别率。
使用医疗保健成本和利用项目数据中的 ICD - 9 - CM 诊断代码来识别有无 DS 的婴儿，并对出生缺陷进行分类。研究人群包括 1993 年至 2002 年从医院出院的活产婴儿。使用调查数据的逻辑回归模型计算先天性畸形发生与 DS 存在之间关联的 OR 值。
出院数据包括 11372 例 DS 出生和 7884209 例非 DS 出生，分别代表全国估计的 43463 例 DS 出生和 39716469 例非 DS 出生。与非 DS 婴儿相比，DS 婴儿中最常出现的先天性心脏缺陷外，DS 婴儿中胃肠道畸形（OR 67.07）、泌尿生殖系统畸形（OR 3.62）、口面部畸形（OR 5.63）和腹壁畸形（OR 3.25）的风险也有所升高。有无 DS 的婴儿脊柱裂风险没有差异。
这是首次对与 DS 相关的先天性畸形共现情况进行的全国代表性汇编。这些信息可能有助于医护人员和家长了解并为这种疾病的真正负担做好准备。
