Related Experiment Video
Updated: Mar 1, 2026
An Ivor Lewis Esophagectomy Designed to Minimize Anastomotic Complications and Optimize Conduit Function
Published on: April 17, 2020
Associated anomalies in cases with esophageal atresia
Claude Stoll1, Yves Alembik1, Beatrice Dott1
1Genetique Medicale, Faculte de Medecine, Strasbourg, France.
Insights
Esophageal atresia (EA) affects nearly half of infants, often with other congenital anomalies. Thorough investigation and screening for associated conditions are crucial for affected newborns and fetuses.
Area of Science:
- Medical Genetics
- Pediatric Surgery
- Public Health
Background:
- Esophageal atresia (EA) is a frequent congenital anomaly with unknown etiology and controversial pathogenesis.
- Infants diagnosed with EA frequently present with additional non-EA associated congenital anomalies.
- Understanding the spectrum and prevalence of these associated anomalies is critical for comprehensive patient care.
Purpose of the Study:
- To determine the prevalence and types of congenital anomalies associated with esophageal atresia (EA).
- To assess the proportion of EA cases that fall into recognizable malformation syndromes or patterns.
- To highlight the necessity of thorough investigation and potential routine screening for associated anomalies in EA cases.
Main Methods:
- A 29-year population-based study of 387,067 consecutive births, including livebirths, stillbirths, and terminations.
- Collection and analysis of data on associated anomalies in 116 confirmed cases of esophageal atresia.
- Inclusion of geneticist examinations, ascertainment of elective terminations, and follow-up surveillance up to 2 years of age.
Main Results:
- The prevalence of EA was 2.99 per 10,000 births, with 46.6% of cases exhibiting associated anomalies.
- Chromosomal abnormalities (7.8%) and recognized dysmorphic conditions (17.2%, including VACTERL and CHARGE syndromes) were significant findings.
- Cardiovascular, digestive, urogenital, musculoskeletal, and central nervous system anomalies were most common; 53.7% of associated anomalies formed recognizable patterns.
Conclusions:
- Nearly half of esophageal atresia cases are accompanied by other congenital anomalies, underscoring the need for comprehensive evaluation.
- A significant proportion of these associated anomalies can be classified into known syndromes, aiding in diagnosis and management.
- Routine screening for associated anomalies in infants and fetuses with EA is recommended to improve patient outcomes.
Abstract:
Esophageal atresia (EA) is a common type of congenital anomaly. The etiology of esophageal atresia is unclear and its pathogenesis is controversial. Infants with esophageal atresia often have other non-EA associated congenital anomalies. The purpose of this investigation was to assess the prevalence and the types of these associated anomalies in a defined population. The associated anomalies in cases with EA were collected in all livebirths, stillbirths, and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population-based registry of congenital malformations. Of the 116 cases with esophageal atresia, representing a prevalence of 2.99 per 10,000, 54 (46.6%) had associated anomalies. There were 9 (7.8%) cases with chromosomal abnormalities including 6 trisomies 18, and 20 (17.2%) nonchromosomal recognized dysmorphic conditions including 12 cases with VACTERL association and 2 cases with CHARGE syndrome. Twenty five (21.6%) of the cases had multiple congenital anomalies (MCA). Anomalies in the cardiovascular, the digestive, the urogenital, the musculoskeletal, and the central nervous systems were the most common other anomalies. The anomalies associated with esophageal atresia could be classified into a recognizable malformation syndrome or pattern in 29 out of 54 cases (53.7%). This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for anomalies was continued until 2 years of age. In conclusion the overall prevalence of associated anomalies, which was close to one in two cases, emphasizes the need for a thorough investigation of cases with EA. A routine screening for other anomalies may be considered in infants and in fetuses with EA.
Related Concept Videos
01:30Esophageal Strictures-I: Introduction
Etiology
The primary cause of esophageal strictures is long-standing gastroesophageal reflux disease (GERD), accounting for about 70 to 80% of adult cases. Chronic acid reflux can lead to injury and scarring of the esophageal lining, culminating in...
01:22Esophageal Perforation-I: Introduction
The location of esophageal perforation can vary, occurring anywhere along the esophagus....
01:28Esophageal Perforation-II: Clinical Manifestations and Management
Clinical Manifestations:
01:24Esophageal Varices-I: Introduction
01:26Esophageal Strictures-II: Clinical Features and Management
Healthcare providers should gather a comprehensive medical history and conduct a physical examination for diagnosis. If esophageal stricture is...
01:21Barrett Esophagus-I: Introduction
This constant acid exposure transforms the esophagus's pink mucosal lining (stratified squamous epithelium) into a type of lining more...