Correa Catalina, Mallarino Christina, Peña Rafael, Rincón Luis Carlos, Gracia Gloria, Zarante Ignacio
Hospital Militar Central, Bogotá, Colombia.
Instituto de Genética Humana, Pontificia Universidad Javeriana, Bogotá Colombia.
J Pediatr Surg. 2014 Jul;49(7):1099-103. doi: 10.1016/j.jpedsurg.2014.03.001.
Congenital anomalies (CAs) cause nearly one third of infant deaths worldwide. Various surveillance systems have been established, such as the Bogota Congenital Malformations Surveillance Program (BCMSP). Some CAs are of special interest to pediatric surgeons: omphalocele, gastroschisis, intestinal and esophageal atresia, anorectal malformations, vascular anomalies, diaphragmatic hernias, hypospadias and cryptorchidism. The aim of this study is to determine the prevalence of such CAs, and identify possible risk factors.
Data from the BCMSP were collected between January 2005 and April 2012. CAs were classified in accordance with the ICD-10 and grouped for analysis purposes. Data on CA frequencies were obtained from the BCMSP. Association analyses were performed using the case-control methodology.
282,523 births were registered. 4682 (1.66%) had one or more CAs at birth. The prevalence of CAs requiring pediatric surgery was 1 in 1000. The most frequent CAs were vascular anomalies, hypospadias, and anorectal malformations. Exposure to external factors was significantly associated with selected CAs. 51% of selected birth defects were not diagnosed in prenatal ultrasound.
This study highlights the importance of evaluating the local prevalence of congenital malformations. We propose the creation of specialized centers in Bogota to manage patients with CAs.
先天性异常(CA)导致全球近三分之一的婴儿死亡。已经建立了各种监测系统,如波哥大先天性畸形监测项目(BCMSP)。一些先天性异常对小儿外科医生特别有意义:脐膨出、腹裂、肠道和食管闭锁、肛门直肠畸形、血管异常、膈疝、尿道下裂和隐睾症。本研究的目的是确定此类先天性异常的患病率,并确定可能的风险因素。
收集2005年1月至2012年4月期间BCMSP的数据。先天性异常根据国际疾病分类第10版进行分类,并为分析目的进行分组。先天性异常频率的数据来自BCMSP。使用病例对照方法进行关联分析。
登记了282,523例出生病例。4682例(1.66%)出生时患有一种或多种先天性异常。需要小儿外科手术的先天性异常患病率为千分之一。最常见的先天性异常是血管异常、尿道下裂和肛门直肠畸形。暴露于外部因素与特定的先天性异常显著相关。51%的特定出生缺陷在产前超声检查中未被诊断出来。
本研究强调了评估先天性畸形当地患病率的重要性。我们建议在波哥大设立专门的中心来管理先天性异常患者。