Genomic Contributors to Esophageal Atresia and Tracheoesophageal Fistula: A 12 Year Retrospective Review.

OBJECTIVE: To evaluate genetic testing utilization and diagnostic yield in infants with esophageal atresia (EA)/tracheoesophageal fistula (TEF) over the past 12 years to inform future practices and individualize prognostication and management. STUDY DESIGN: A retrospective cohort study was performed for all infants with EA or EA/TEF hospitalized between January 2011 and January 2023 at a quaternary children's hospital. For each infant, demographic information, prenatal and postnatal history, and genetic testing were reviewed. RESULTS: There were 212 infants who were classified as follows: 1) complex/syndromic with EA/TEF plus an additional major anatomic anomaly (n = 114, of which 74 met VACTERL criteria); 2) isolated/nonsyndromic EA/TEF (n = 88) and 3) isolated/nonsyndromic EA (n = 10). A range of genetic tests were sent with varying diagnostic rates including karyotype analysis in 12 (all with complex/syndromic phenotypes and all positive), chromosomal microarray analysis in 189 (114 of whom were complex/syndromic with an overall diagnostic rate of 3/189), single gene testing for CHD7 in 18 (4 positive), and exome analysis in 37 complex/syndromic patients (8 positive). CONCLUSIONS: EA/TEF with and without additional anomalies is genetically heterogeneous with a broad range of associated phenotypes. While the genetic etiology of EA/TEF with or without VACTERL remains largely unknown, genome wide testing (exome or genome) including copy number analysis is recommended over chromosomal microarray testing. We anticipate that expanded genetic/genomic testing modalities such as RNA sequencing and tissue specific molecular testing are needed in this cohort to improve our understanding of the genomic contributors to EA/TEF.

Tracheoesophageal Fistula With Esophageal Atresia: A Case Series.

Tracheoesophageal fistula (TEF) with or without esophageal atresia (EA) results from maldevelopment of the trachea and esophagus during maturation of the primitive foregut. EA/TEF commonly presents shortly after birth because of increased oral secretions and the inability to advance a nasogastric or orogastric tube to the proper depth. Given that prenatal diagnosis is uncommon and early intervention is important to reduce morbidity and mortality risk, early recognition and diagnosis are imperative. We present a case series of two neonates diagnosed with EA/TEF, type "C" and type "E," born at low-acuity centers, who required transport to a tertiary center for surgical support. The pathophysiology as well as types of TEFs, symptomology, stabilization goals, corrective treatment, and long-term implications will be examined. Finally, the educational needs of parents and caregivers will be discussed.

Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.

Developmental abnormalities provide a unique opportunity to seek for the molecular mechanisms underlying human organogenesis. Esophageal development remains incompletely understood and elucidating causes for esophageal atresia (EA) in humans would contribute to achieve a better comprehension. Prenatal detection, syndromic classification, molecular diagnosis, and prognostic factors in EA are challenging. Some syndromes have been described to frequently include EA, such as CHARGE, EFTUD2-mandibulofacial dysostosis, Feingold syndrome, trisomy 18, and Fanconi anemia. However, no molecular diagnosis is made in most cases, including frequent associations, such as Vertebral-Anal-Cardiac-Tracheo-Esophageal-Renal-Limb defects (VACTERL). This study evaluates the clinical and genetic test results of 139 neonates and 9 fetuses followed-up at the Necker-Enfants Malades Hospital over a 10-years period. Overall, 52 cases were isolated EA (35%), and 96 were associated with other anomalies (65%). The latter group is divided into three subgroups: EA with a known genomic cause (9/148, 6%); EA with Vertebral-Anal-Cardiac-Tracheo-Esophageal-Renal-Limb defects (VACTERL) or VACTERL/Oculo-Auriculo-Vertebral Dysplasia (VACTERL/OAV) (22/148, 14%); EA with associated malformations including congenital heart defects, duodenal atresia, and diaphragmatic hernia without known associations or syndromes yet described (65/148, 44%). Altogether, the molecular diagnostic rate remains very low and may underlie frequent non-Mendelian genetic models.

Recent Advances in the Genetic Pathogenesis, Diagnosis, and Management of Esophageal Atresia and Tracheoesophageal Fistula: A Review.

Infants born with esophageal atresia and tracheoesophageal fistula, a complex congenital malformation occurring in 1/2500-4000 live births, may suffer threats to their cardiac, respiratory, and digestive health in addition to anomalies that may exist in the genitourinary and musculoskeletal systems. Optimal care for these patients throughout their lives is best achieved through a coordinated, multidisciplinary approach that our health care system is not always well-equipped to provide. This review, though not exhaustive, highlights the components of care that pertain to initial surgical reconstruction and subsequent diagnosis and management of the complications that are most frequently encountered. Authors from among the many specialties involved in the care of these patients summarize the current best practice with attention to the most recent advances. Assessment and improvement of quality of life and transition to adult specialists as children grow to adulthood is also reviewed.

To assess the cell lines on esophagogastroduod enoscopies of children with feeding difficulty, esophageal fistula and asthma with histologic abnormality.

The purpose of this study is to evaluate the cell lines seen on esophagogastoduodenoscopy (EGD) of children who have difficulties feeding, esophageal fistula, and asthma that has some histologic abnormalities.  This is a study that looked back at the medical records of 100 children whose cells had been surgically restored after being impacted by EA or TEF. A review of the instrumental tests that were carried out at our facility has been conducted in order to identify any lingering anatomic or functional abnormalities of the airways and gastrointestinal system that would explain the pulmonary clinical images. Due to neurodevelopmental sequelae and the existence of tracheostomies, only 26 sets of pre and post-bronchodilator spirometry data were available for children. 100 children cells with esophageal atresia and tracheoesophageal fistula were included in the study. The average number of weeks spent in gestation was 37.01± 2.33, and the average weight of a newborn was 2614±77.69 grammes. Twenty percent of the children's cells exhibited a syndromic appearance, and the VACTERL connection was identified in seventeen percent of the patients. In all, 80% of the children cells in the sample reported having respiratory symptoms, with 85% of patients experiencing symptoms of the lower respiratory tract and 15% experiencing symptoms of the upper respiratory tract. It is common practice to attribute children's symptoms to reflux and esophageal anomalies, despite the presence of respiratory symptoms and aberrant findings discovered by flexible bronchoscopy and CT assessment.

Systematic review of long term follow-up and transitional care in adolescents and adults with esophageal atresia - why is transitional care mandatory?

PURPOSE:  to review recent literature concerning long-term health issues and transitional care in esophageal atresia (EA) patients. PubMed, Scopus, Embase and Web of Science databases were screened for studies regarding EA patients aged more than or equal to 11 years, published between August 2014 and June 2022. Sixteen studies involving 830 patients were analyzed. Mean age was 27.4 years (range 11-63). EA subtype distribution was: type C (48.8%), A (9.5%), D (1.9%), E (0.5%) and B (0.2%). 55% underwent primary repair, 34.3% delayed repair, 10.5% esophageal substitution. Mean follow-up was 27.2 years (range 11-63). Long-term sequelae were: gastro-esophageal reflux (41.4%), dysphagia (27.6%), esophagitis (12.4%), Barrett esophagus (8.1%), anastomotic stricture (4.8%); persistent cough (8.7%), recurrent infections (4.3%) and chronic respiratory diseases (5.5%). Musculo-skeletal deformities were present in 36 out of 74 reported cases. Reduced weight and height were detected in 13.3% and 6% cases, respectively. Impaired quality of life was reported in 9% of patients; 9.6% had diagnosis or raised risk of mental disorders. 10.3% of adult patients had no care provider. Meta-analysis was conducted on 816 patients. Estimated prevalences are: GERD 42.4%, dysphagia 57.8%, Barrett esophagus 12.4%, respiratory diseases 33.3%, neurological sequelae 11.7%, underweight 19.6%. Heterogeneity was substantial (> 50%).   Conclusion: EA patients must continue follow-up beyond childhood, with a defined transitional-care path by a highly specialized multidisciplinary team due to the multiple long-term sequelae. WHAT IS KNOWN: • Survival rates of esophageal atresia patients is now more than 90% thanks to the improvements in surgical techniques and intensive care, therefore patients' needs throughout adolescence and adulthood must be taken into account. WHAT IS NEW: • This review, by summarizing recent literature concerning long term sequelae of esophageal atresia, may contribute to raise awareness on the importance of defining standardized protocols of transitional and adulthood care for esophageal atresia patients.

Prognosis and clinical issues of esophageal atresia in extremely low birth weight neonates: a case series.

BACKGROUND: Esophageal atresia (EA) in extremely low birth weight (ELBW) neonates is rare. This report aims to clarify EA's clinical courses and prognosis in ELBW neonates and the clinical issues of long-term survival cases. METHODS: A retrospective analysis was conducted for 8 neonates diagnosed with esophageal atresia. Medical records of ELBW EA neonates treated at our institution were reviewed to assess patient demographics, clinical courses, and outcomes. Transferred patient data was obtained from their local physicians through questionnaires. RESULTS: EA in ELBW neonates were included in 8 of EA infants (7%). Fatal respiratory and cardiovascular complications of trisomy 18 and complications related to immaturity such as liver failure and pulmonary hypertension were associated with poor prognosis. During primary operations, gastrostomy and esophageal banding were performed together in 50% of the cases, while gastrostomy was performed alone in 25%. The esophageal anastomosis was not performed during any primary operation. All causes of death, except for 1 case, were due to non-surgical causes. A long-term survival case of 17 years postoperatively was included. CONCLUSION: Although ELBW EA has a poor prognosis, long-term survival is possible in some cases, so aggressive therapeutic intervention is considered essential. It is important to share information about the prognosis with parents and multidisciplinary specialists and to select an appropriate treatment strategy for each case.

Diagnosis and management of congenital type D esophageal atresia.

This study was performed to describe the current clinical practice and outcomes of type D esophageal atresia. We retrospectively analyzed 10 patients who were diagnosed with type D esophageal atresia and underwent esophageal atresia and tracheoesophageal fistula repair in the Capital Institute of Pediatrics and Beijing Children's Hospital from January 2017 to May 2022. Ten patients include three newborns and seven non-newborns. Seven (70%) cases were misdiagnosed as type C esophageal atresia before the first operation. Three neonatal children underwent thoracoscopic distal tracheoesophageal fistula ligation and esophageal anastomosis: the proximal tracheoesophageal fistula was simultaneously repaired with thoracoscopy in one of these children, and the proximal tracheoesophageal fistula was not detected under thoracoscopy in the other two children. Among the seven non-neonatal children, one underwent repair of the proximal tracheoesophageal fistula through the chest and the other six underwent repair through the neck. Nine patients were cured, and one died of complications of severe congenital heart disease. Type D esophageal atresia lacks specific clinical manifestations. Misdiagnosis as type C esophageal atresia is the main cause of an unplanned reoperation. Patients without severe malformations have a good prognosis.

[Combination of esophageal atresia with proximal tracheoesophageal fistula and meconium peritonitis: a case report]. / Sochetanie atrezii pishchevoda s proksimal'nym trakheopishchevodnym svishchom i mekonievogo peritonita.

We report a patient with combination of esophageal atresia, proximal tracheoesophageal fistula and meconium peritonitis. These two rare disorders have different etiology, pathogenetic mechanisms and require different diagnostic manipulations and surgical treatments. The authors discuss the features of diagnosis and surgical treatment of this disease.

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.

Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a life-threatening birth defect that often occurs with other major birth defects (EA/TEF+). Despite advances in genetic testing, a molecular diagnosis can only be made in a minority of EA/TEF+ cases. Here, we analyzed clinical exome sequencing data and data from the DECIPHER database to determine the efficacy of exome sequencing in cases of EA/TEF+ and to identify phenotypic expansions involving EA/TEF. Among 67 individuals with EA/TEF+ referred for clinical exome sequencing, a definitive or probable diagnosis was made in 11 cases for an efficacy rate of 16% (11/67). This efficacy rate is significantly lower than that reported for other major birth defects, suggesting that polygenic, multifactorial, epigenetic, and/or environmental factors may play a particularly important role in EA/TEF pathogenesis. Our cohort included individuals with pathogenic or likely pathogenic variants that affect TCF4 and its downstream target NRXN1, and FANCA, FANCB, and FANCC, which are associated with Fanconi anemia. These cases, previously published case reports, and comparisons to other EA/TEF genes made using a machine learning algorithm, provide evidence in support of a potential pathogenic role for these genes in the development of EA/TEF.

Can 18-years of data from a tertiary referral center help to identify risk factors in esophageal atresia?

BACKGROUND: Esophageal atresia is a complex esophageal malformation with an incidence of 1 in 3,500-4,000 live births, and it usually occurs together with anomalies in other systems or chromosomes. This study aimed to investigate the short-term and long-term results of cases of esophageal atresia retrospectively in our institution and to analyze the factors affecting the outcome. METHODS: Charts of the patients managed for esophageal atresia in our tertiary pediatric surgery department were investigated retrospectively. Statistical analysis was performed to determine the risk factors for morbidity and mortality. RESULTS: One hundred and thirteen (95.8%) of 118 cases underwent a single-stage or staged esophagoesophagostomy procedure. In only five of the 40 patients with a long gap between the two atretic ends was an esophageal replacement procedure required. The most common early and late complications were anastomotic stenosis (41.6%) and gastroesophageal reflux (44.9%). In logistic regression analysis, the birthweight (OR [95% CI] = 0.998 [0.997, 0.999], P = 0.001) and preoperative inotrope requirement (OR [95% CI] = 13.8 [3.6-53.3], P < 0.001) were the two risk factors in the mortality prediction model obtained by multivariate analysis. The gap length between the two atretic ends (OR [95% CI] = 1.436 [1.010, 2.041], P = 0.044) and the number of sutures for anastomosis (OR [95% CI] = 1.313 [1.042, 1.656], P = 0.021) were the two risk factors in the gastroesophageal reflux prediction model obtained by multivariate analysis. CONCLUSIONS: Our study's early and late complication rates were like those found in other studies. Identifying risk factors would be beneficial and might help reduce the severity of potential complications in esophageal atresia patients. Prospective studies on large patient series would help develop registry-based, standardized management protocols.

[Current Treatment of Oesophageal Atresia]. / Aktuelle Behandlungsstrategien der Ösophagusatresie.

Oesophageal atresia is a rare congenital malformation occurring in 1 : 3000/1 : 4000 neonates. Surgical correction is always required. Perioperative management concepts depend on the type of malformation. Postoperative results are closely related to postsurgical complications. Interdisciplinary management should extend from prenatal diagnosis, birth and perinatal care to neonatal intensive care and paediatric surgical therapy with specialised pediatric anaesthesia. Other areas that should be available are logopedia, paediatric gastroenterology and paediatric pulmonology. Long-term care should include systematic aftercare and transition programs to adult medicine.

An overview of esophageal atresia and tracheoesophageal fistula.

ABSTRACT: Esophageal atresia and tracheoesophageal fistula are often-concomitant pathologies that primarily afflict neonates. The complications of these anomalies may lead to increased morbidity and mortality, and clinicians should be familiar with the diagnosis and management of these pathologies. Clinicians can improve patient outcomes by having a thorough understanding of the signs and symptoms, classification systems, diagnostic workup, and surgical intervention options for these patients. Early recognition and treatment are imperative in providing patients with the best opportunity for recovery.

Risk Factors of Early Mortality and Morbidity in Esophageal Atresia with Distal Tracheoesophageal Fistula: A Population-Based Cohort Study.

OBJECTIVE: To identify the risk factors for early mortality and morbidity in a population with distal esophageal atresia (EA)-tracheoesophageal fistula. STUDY DESIGN: Cohort study from a national register. Main outcomes and measures included early mortality, hospital length of stay (LoS), need for nutritional support at 1 year of age as a proxy measure of morbidity, and complications during the first year of life. RESULTS: In total, 1008 patients with a lower esophageal fistula were included from January 1, 2008, to December 31, 2014. The survival rate at 3 months was 94.9%. The cumulative hospital LoS was 31.0 (17.0-64.0) days. Multivariate analysis showed that intrahospital mortality at 3 months was associated with low birth weight (OR 0.52, 95% CI [0.38-0.72], P < .001), associated cardiac abnormalities (OR 6.09 [1.96-18.89], P = .002), and prenatal diagnosis (OR 2.96 [1.08-8.08], P = .034). LoS was associated with low birth weight (-0.225 ± 0.035, P < .001), associated malformations (0.082 ± 0.118, P < .001), surgical difficulties (0.270 ± 0.107, P < .001), and complications (0.535 ± 0.099, P < .001) during the first year of life. Predictive factors for dependency on nutrition support at 1 year of age were complications before 1 year (OR 3.28 [1.23-8.76], P < .02) and initial hospital LoS (OR 1.96 [1.15-3.33], P < .01). CONCLUSIONS: EA has a low rate of early mortality, but morbidity is high during the first year of life. Identifying factors associated with morbidity may help to improve neonatal care of this population.

Dynamic esophageal patency assessment: an effective method for prenatally diagnosing esophageal atresia.

BACKGROUND: Esophageal atresia is a major anomaly with a low prenatal detection rate. We propose a sonographic method termed dynamic esophageal patency assessment. OBJECTIVE: This study aimed to assess the feasibility and performance of the dynamic esophageal patency assessment in a high-risk population. STUDY DESIGN: A prospective study was conducted in a single tertiary fetal ultrasound unit for 12 months. The study group included pregnant women referred for a targeted scan because of one or more of the following: (1) polyhydramnios; (2) small or absent stomach; (3) vertebral, anal atresia, cardiac, tracheoesophageal fistula, renal, and limb abnormalities; (4) first-degree relative with esophageal atresia; and (5) genetic mutation associated with esophageal atresia. In addition to dynamic esophageal patency assessment, a comprehensive anomaly scan was carried out. The fetal esophagus was observed during swallowing. Cases that demonstrated uninterrupted fluid propagation through the esophagus were classified as normal. Cases that demonstrated interrupted fluid propagation, with the formation of a pouch, were classified as abnormal. Cases with unclear visualization of the esophagus or cases that failed to demonstrate either fluid propagation or a pouch were classified as undetermined. Dynamic esophageal patency assessment results were compared with postnatal findings, considered "gold standard." Test performance indices and intra- and interobserver agreements were calculated. RESULTS: For 12 months, 130 patients were recruited, and 132 fetuses were scanned. The median gestational age (interquartile range) at the time of scan was 31.4 weeks (29.0-35.3). Of 132 fetuses enrolled, 123 (93.2%) were normal, 8 (6%) were abnormal, and 1 (0.8%) was undetermined. Excluded from test performance analysis were 3 cases that were terminated without postmortem autopsy (1 was abnormal and 2 were normal), and a fourth case was excluded as it was classified as undetermined. The detection rate of esophageal atresia was 100%, with no false-positive or false-negative case. Sensitivity, specificity, and positive and negative predictive values of the dynamic esophageal patency assessment were 100%. The Kappa coefficient was 1 for both inter- and intraobserver agreements (P<.0001). The median time (interquartile range) required to complete the dynamic esophageal patency assessment was 6.00 minutes (3.00-13.25). CONCLUSION: The dynamic esophageal patency assessment is a feasible and highly effective method of ascertaining an intact esophagus and detecting esophageal atresia in suspected cases.

Delayed Diagnosis in Esophageal Atresia and Tracheoesophageal Fistula: Case Study.

BACKGROUND: Timely identification of esophageal atresia is challenging. Diagnosis may be suspected antenatally with a combination of polyhydramnios, associated with a small or absent stomach bubble or other anomalies. Esophageal atresia can be suspected postnatally in the presence of tachypnea, increased oral secretions, and an inability to advance an orogastric tube. Failure to recognize an esophageal atresia can have life-threatening implications. CLINICAL FINDINGS: A 5-day-old infant with a history of failure to thrive and respiratory distress presented in a community emergency department following a prolonged apnea associated with a breastfeed. PRIMARY DIAGNOSIS: Delayed postnatal diagnosis of esophageal atresia and tracheoesophageal fistula. INTERVENTIONS: During stabilization in the emergency department, a nasogastric tube was placed to decompress the stomach. A subsequent chest and abdominal radiograph identified the nasogastric tube curled in the upper esophagus, confirming an esophageal atresia. The abdominal radiograph demonstrated gaseous distension, suggesting the presence of a distal tracheoesophageal fistula. OUTCOMES: The neonate had a primary esophageal anastomosis and fistula ligation in a surgical neonatal unit. He was discharged home at 29 days of life. PRACTICE RECOMMENDATIONS: Understanding the challenges of an antenatal diagnosis and awareness of postnatal presentation with a view to improving postnatal recognition and better-quality outcomes for infants with an esophageal atresia and tracheoesophageal fistula.

Radiation burden in patients with esophageal atresia: a systematic review.

Esophageal atresia (EA) is the most common congenital esophageal disorder. Radiological imaging facilitates diagnosis, surgical interventions, and follow-up. Despite this, standardized monitoring guidelines are lacking. We aimed to: (1) review the literature regarding radiation burden in children with EA; (2) establish the presence of guidelines for diagnosis and follow-up in children with EA. The systematic review was performed according to PRISMA protocol. Two investigators conducted independent searches (PubMed, Ovid, Cochrane Review) and data extraction. Analysis focused on pre- and post-operative imaging type and frequency to determine the radiation burden. Seven studies met the inclusion criteria (337 patients). All authors agreed upon the need to minimize radiation burden, recommending symptoms-guided management, use of dosimeters, and non-radiating imaging. One study identified a median 130-fold increase in cumulative lifetime cancer risk in children with EA compared with other babies in the special care unit. The most common investigations were X-ray and CT (pre-operatively), and X-ray and contrast swallow (post-operatively). Standardized guidelines focused upon the frequency and type of radiological imaging for children with EA are lacking. Children with EA are subjected to more radiation exposure than the general population. Implementation of non-radiating imaging (ultrasonography, manometry) is recommended.

Abdominal esophageal banding for esophageal atresia with tracheoesophageal fistula in neonates with severe associated anomalies.

PURPOSE: The aim of this study was to evaluate the materials used for abdominal esophageal banding, and to evaluate the complications associated with abdominal esophageal banding. METHODS: The medical records of seven patients with esophageal atresia (EA) and tracheoesophageal fistula (TEF) who underwent abdominal esophageal banding between December 2009 and January 2020 were retrospectively reviewed. RESULTS: The patients were banded with vinyl tape (n = 1), silicone tape (n = 2), polyacetal resin clips (n = 1), or an expanded polytetrafluoroethylene (ePTFE) sheet (n = 3). Banding with vinyl tape resulted in banding failure at postoperative day (POD) 89. One patient with silicone tape developed banding failure at POD 177. In the other patient, it was discovered during radical surgery that the silicone tape had slipped through the abdominal esophagus. Polyacetal resin clip banding resulted in esophageal wall perforation at POD 27. One patient banded with an ePTFE sheet underwent upper gastric transection at POD 650, while another underwent TEF resection at POD 156; in the third patient, the banding condition was maintained for more than 100 days. CONCLUSION: Abdominal esophageal banding is useful as a palliative treatment for EA/TEF with severe associated anomalies. Surgeons should plan the next surgery depending on the patient's condition.

Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia.

Esophageal atresia (EA) is a congenital anomaly occurring in 2.3 per 10,000 live births. Due to advances in prenatal imaging, EA is more readily diagnosed, but data on the associated genetic diagnoses, other anomalies, and postnatal outcome for fetuses diagnosed prenatally with EA are scarce. We collected data from two academic medical centers (n = 61). Our data included fetuses with suspected EA on prenatal imaging that was confirmed postnatally and had at least one genetic test. In our cohort of 61 cases, 29 (49%) were born prematurely and 19% of those born alive died in the first 9 years of life. The most commonly associated birth defects were cardiac anomalies (67%) and spine anomalies (50%). A diagnosis was made in 61% of the cases; the most common diagnoses were vertebral defects, anal atresia, cardiac anomalies, tracheoesophageal fistula with esophageal atresia, radial or renal dysplasia, and limb anomalies association (43%, although 12% met only 2 of the criteria), trisomy 21 (5%), and CHARGE syndrome (5%). Our findings suggest that most fetuses with prenatally diagnosed EA have one or more additional major anomaly that warrants a more comprehensive clinical genetics evaluation. Fetuses diagnosed prenatally appear to represent a cohort with a worse outcome.

Esophageal atresia: Associated anomalies, mortality, and morbidity in Jordan.

BACKGROUND: Esophageal atresia is a developmental disorder in which the upper and lower esophagus fail to connect. It has an estimated prevalence of 1 in 2,500-4,500 live births and has poorer outcomes in low- and middle-income countries than in high-income countries. This study focused on the disorder's epidemiology, morbidity, and mortality in Jordan to address the lack of data regarding esophageal atresia in this country. METHODS: This was a retrospective study covering a 16-year period at a tertiary care academic hospital. Data were extracted from archived medical records and operative notes. All patients who had complete congenital esophageal atresia data were included. In total, the records of 55 patients were analyzed. RESULTS: Of the included patients, 9% were diagnosed prenatally and 47% were diagnosed with polyhydramnios. The mean gestational age was 37 weeks, the mean birthweight was 2,550 g, and 60% of patients were male. Isolated cases of esophageal atresia were reported in 58.2% of patients. There was a high rate of associated congenital anomalies (41.8%), with cardiac lesions the most common (20%), and 5.5% were syndromic. Parental consanguinity was found in 18.2% of patients. Postoperative surgical-related morbidities included stricture (18/24; 75%) and leakage (5/24; 20.8%). Fistula recurrence occurred in one patient (4.2%). The mortality rate was 12.8%. CONCLUSION: Esophageal atresia causes a high rate of mortality and exhibits post-operative morbidities. Moreover, associated anomalies were frequently observed. A high level of the malformation was found among offspring from consanguineous marriages.