Associated congenital anomalies among cases with Down syndrome
Associated congenital anomalies among cases with Down syndrome
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DOI：
10.1016/j.ejmg.2015.11.003
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发表时间：
2015-12-01
影响因子：
1.9
通讯作者：
Roth, Marie-Paule
中科院分区：
文献类型：
--
作者：
Stoll, Claude;Dott, Beatrice;Roth, Marie-Paule
唐氏综合征（DS）是最常见的先天性畸形，至少150年来被广泛研究。然而，与DS相关的先天性异常的类型和频率仍然存在争议。尽管产前诊断和选择性终止妊娠的胎儿畸形，在欧洲，从2008年至2012年，活产患病率DS每10，000人为10。2.本研究的目的是检查唐氏综合征婴儿和胎儿的主要先天性异常。本研究的材料来自1979年至2008年期间我们的先天性畸形登记处登记的402，532例已知结局的连续妊娠。在登记的728例DS病例中，有467例（64%）至少有一项重大相关先天性异常。最常见的合并畸形为心脏畸形323例（44%），其次为消化系统畸形42例（6%），肌肉骨骼系统畸形35例（5%），泌尿系统畸形28例（4%），呼吸系统畸形13例（2%），其他系统畸形26例（3.6%）。在DS合并先天性心脏病的病例中，最常见的心脏异常是房室间隔缺损（30%），其次是房间隔缺损（25%）、室间隔缺损（22%）、动脉导管未闭（5%）、主动脉缩窄（5%）和法洛四联症（3%）。在伴有消化系统异常的DS病例中，十二指肠闭锁（67%）、先天性巨结肠（14%）和气管食管闭锁（10%）是最常见的。14例（2%）DS患者存在肾盂梗阻性异常，包括肾积水。与DS病例相关的其他最常见的异常是并指畸形、马蹄内翻足、多指畸形、肢体缩短、白内障、脑积水、腭裂、尿道下裂和腹股沟疝。许多评估DS相关异常的研究报告了各种结果。文献中未就DS伴相关异常病例中最常见的相关异常达成一致。在本研究中，我们观察到相关异常的百分比高于其他报告的系列，以及十二指肠闭锁、泌尿系统异常、肌肉骨骼系统异常和呼吸系统异常的发生率增加，肛门闭锁、环状胰腺和肢体复位缺陷的发生率降低。总之，我们观察到总先天性异常和与唐氏综合征相关的畸形的特定模式的高患病率，这强调需要仔细评估所有唐氏综合征病例的可能相关的主要先天性异常。(C)2015年Elsevier Masson SAS。All rights reserved.
Down syndrome (DS) is the most common congenital anomaly widely studied for at least 150 years. However, the type and the frequency of congenital anomalies associated with DS are still controversial. Despite prenatal diagnosis and elective termination of pregnancy for fetal anomalies, in Europe, from 2008 to 2012 the live birth prevalence of DS per 10,000 was 10. 2. The objectives of this study were to examine the major congenital anomalies occurring in infants and fetuses with Down syndrome. The material for this study came from 402,532 consecutive pregnancies of known outcome registered by our registry of congenital anomalies between 1979 and 2008. Four hundred sixty seven (64%) out of the 728 cases with DS registered had at least one major associated congenital anomaly. The most common associated anomalies were cardiac anomalies, 323 cases (44%), followed by digestive system anomalies, 42 cases (6%), musculoskeletal system anomalies, 35 cases (5%), urinary system anomalies, 28 cases (4%), respiratory system anomalies, 13 cases (2%), and other system anomalies, 26 cases (3.6%). Among the cases with DS with congenital heart defects, the most common cardiac anomaly was atrioventricular septal defect (30%) followed by atrial septum defect (25%), ventricular septal defect (22%), patent ductus arteriosus (5%), coarctation of aorta (5%), and tetralogy of Fallot (3%). Among the cases with DS with a digestive system anomaly recorded, duodenal atresia (67%), Hirschsprung disease (14%), and tracheo-esophageal atresia (10%) were the most common. Fourteen (2%) of the cases with DS had an obstructive anomaly of the renal pelvis, including hydronephrosis. The other most common anomalies associated with cases with DS were syndactyly, club foot, polydactyly, limb reduction, cataract, hydrocephaly, cleft palate, hypospadias and diaphragmatic hernia. Many studies to assess the anomalies associated with DS have reported various results. There is no agreement in the literature as to which associated anomalies are most common in cases with DS with associated anomalies. In this study we observed a higher percentage of associated anomalies than in the other reported series as well as an increase in the incidence of duodenal atresia, urinary system anomalies, musculoskeletal system anomalies, and respiratory system anomalies, and a decrease in the incidence of anal atresia, annular pancreas, and limb reduction defects. In conclusion, we observed a high prevalence of total congenital anomalies and specific patterns of malformations associated with Down syndrome which emphasizes the need to evaluate carefully all cases with Down syndrome for possible associated major congenital anomalies. (C) 2015 Elsevier Masson SAS. All rights reserved.