Article

Etiology of Esophageal Atresia and Tracheoesophageal Fistula: “Mind the Gap”

Department of Pediatric Surgery, Erasmus MC-Sophia Children's Hospital, PO Box 2060, 3000 CB, Rotterdam, The Netherlands.
Current Gastroenterology Reports 06/2010; 12(3):215-22. DOI: 10.1007/s11894-010-0108-1
Source: PubMed

ABSTRACT

Esophageal atresia and tracheoesophageal fistula (EA/TEF) are major congenital malformations affecting 1:3500 live births. Current research efforts are focused on understanding the etiology of these defects. We describe well-known animal models, human syndromes, and associations involving EA/TEF, indicating its etiologically heterogeneous nature. Recent advances in genotyping technology and in knowledge of human genetic variation will improve clinical counseling on etiologic factors. This review provides a clinical summary of environmental and genetic factors involved in EA/TEF.

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Available from: Annelies de klein, Jan 30, 2015
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    • "The underlying etiology of EA has been described as multifactorial and is likely to differ across settings (Robert et al., 1993; Felix et al., 2009; de Jong et al., 2010b). In addition to maternal ethnicity and geographic location, previous studies have reported EA to be associated with maternal age (Leck et al., 1968; Harris et al., 1995), multiple gestation (Harris et al., 1995; Riley et al., 1998), infant sex (Robert et al., 1993) and use of assisted reproductive technology (Reefhuis et al., 2009). "
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    ABSTRACT: Background: The prevalence of esophageal atresia (EA) has been shown to vary across different geographical settings. Investigation of geographical differences may provide an insight into the underlying etiology of EA. Methods: The study population comprised infants diagnosed with EA during 1998 to 2007 from 18 of the 46 birth defects surveillance programs, members of the International Clearinghouse for Birth Defects Surveillance and Research. Total prevalence per 10,000 births for EA was defined as the total number of cases in live births, stillbirths, and elective termination of pregnancy for fetal anomaly (ETOPFA) divided by the total number of all births in the population. Results: Among the participating programs, a total of 2943 cases of EA were diagnosed with an average prevalence of 2.44 (95% confidence interval [CI], 2.35-2.53) per 10,000 births, ranging between 1.77 and 3.68 per 10,000 births. Of all infants diagnosed with EA, 2761 (93.8%) were live births, 82 (2.8%) stillbirths, 89 (3.0%) ETOPFA, and 11 (0.4%) had unknown outcomes. The majority of cases (2020, 68.6%), had a reported EA with fistula, 749 (25.5%) were without fistula, and 174 (5.9%) were registered with an unspecified code. Conclusions: On average, EA affected 1 in 4099 births (95% CI, 1 in 3954-4251 births) with prevalence varying across different geographical settings, but relatively consistent over time and comparable between surveillance programs. Findings suggest that differences in the prevalence observed among programs are likely to be attributable to variability in population ethnic compositions or issues in reporting or registration procedures of EA, rather than a real risk occurrence difference. Birth Defects Research (Part A), 2012.
    Full-text · Article · Nov 2012 · Birth Defects Research Part A Clinical and Molecular Teratology
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    • "Approximately half of patients have accompanying malformations, such as occur in Feingold syndrome, anophthalmia-esophageal-genital syndrome, CHARGE syndrome, vertebral anomalies, anal atresia, cardiovascular anomalies, tracheoesophageal fistula, esophageal atresia, renal or radial anomalies, or limb defects (VACTERL) association, and other, less well-characterized conditions involving multiple malformations. Among these accompanying congenital anomalies, cardiac defects are especially common (reviewed in Shaw–Smith,2006; de Jong et al., 2010). "
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    ABSTRACT: Tracheo-esophageal fistula (TEF) with/or without esophageal atresia (EA) is a common congenital malformation that is often accompanied by other anomalies. The causes of this condition are thought to be heterogeneous but are overall not well understood. We identified a patient with a TEF/EA, as well as cardiac and genitourinary anomalies, who was found to have a 0.7 Mb de novo deletion of chromosome 20q13.33. One gene within the deleted interval, GTPBP5, is of particular interest as a candidate gene. GTPBP5 bears further study as a cause of TEF/EA accompanied by other malformations.
    Full-text · Article · Sep 2011 · Birth Defects Research Part A Clinical and Molecular Teratology
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    ABSTRACT: L’atrésie de l’oesophage (AO) est une malformation congénitale rare (1 cas pour 2500 à 3500 naissances). Plusieurs formes anatomiques existent mais l’interruption de l’oesophage est le plus souvent associée à une fistule oesotrachéale (90 %). Le diagnostic anténatal (DAN) de cette anomalie est particulièrement intéressant car il permet de réaliser un bilan complémentaire à la recherche de formes associées de plus mauvais pronostic (échographie de réference, IRM et amniocentèse). Il prépare de plus les parents à la prise en charge postnatale et permet d’optimiser celle ci. L’hydramnios et/ou un estomac absent ou de petite taille sont les deux signes échographiques d’appel les plus fréquents mais ils ne sont pas spécifiques de l’AO. La visualisation en échographie ou en IRM d’une image liquidienne cervicale ou thoracique lors des mouvements de déglutition (pouch sign des anglosaxons), correspondant à la dilatation du cul-de-sac oesophagien supérieur borgne, permet d’augmenter la spécificité du diagnostic. Le DAN reste cependant difficile et moins de 50 % des AO sont repérées en anténatal. L’analyse biochimique du liquide amniotique pourrait améliorer ces résultats.
    No preview · Article · Sep 2012 · Revue de médecine périnatale
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