Freeman S B, Taft L F, Dooley K J, Allran K, Sherman S L, Hassold T J, Khoury M J, Saker D M
Department of Genetics, Emory University, Atlanta, Georgia 30322, USA.
Am J Med Genet. 1998 Nov 16;80(3):213-7.
Mental retardation and hypotonia are found in virtually all Down syndrome (DS) individuals, whereas congenital heart defects (CHDs) are only present in a subset of cases. Although there have been numerous reports of the frequency of CHDs in DS, few of the studies have had complete ascertainment of DS in a defined geographic area. The Atlanta Down Syndrome Project, a population-based study of infants born with trisomy 21, provides such a resource. In the first 6.5 years of the study, 243 trisomy 21 livebirths were identified in the five-county Atlanta area (birth prevalence: 9.6/10,000). Cardiac diagnoses were available on 227 (93%) of the cases and 89% of these evaluations were made by echocardiography, cardiac catheterization, surgery, or autopsy. Of the 227 DS infants, 44% had CHDs including 45% atrioventricular septal defect (with or without other CHDs), 35% ventricular septal defect (with or without other CHDs), 8% isolated secundum atrial septal defect, 7%, isolated persistent patent ductus arteriosus, 4% isolated tetralogy of Fallot, and 1% other. This report is unique in that it contains the largest number of trisomy 21 infants ascertained in a population-based study where modern techniques for diagnosing cardiac abnormalities predominate.
几乎所有唐氏综合征（DS）患者都存在智力发育迟缓及肌张力减退的情况，而先天性心脏病（CHD）仅在部分病例中出现。尽管已有众多关于DS患者中CHD发生率的报道，但很少有研究能在特定地理区域内对DS病例进行全面确诊。亚特兰大唐氏综合征项目是一项针对出生时患有21三体综合征婴儿的基于人群的研究，提供了这样一种资源。在该研究的前6.5年中，在亚特兰大地区的五个县共确定了243例21三体综合征活产儿（出生患病率：9.6/10,000）。227例（93%）病例有心脏诊断结果，其中89%的评估是通过超声心动图、心导管检查、手术或尸检做出的。在这227例DS婴儿中，44%患有CHD，其中包括45%的房室间隔缺损（伴有或不伴有其他CHD）、35%的室间隔缺损（伴有或不伴有其他CHD）、8%的单纯继发孔房间隔缺损、7%的单纯持续性动脉导管未闭、4%的单纯法洛四联症以及1%的其他类型。本报告的独特之处在于，它包含了基于人群的研究中确诊的数量最多的21三体综合征婴儿，且在该研究中诊断心脏异常的现代技术占主导地位。
