2012•Birth Defects Research Part A Clinical and Molecular TeratologyRequires access
Nine new twin pairs with esophageal atresia: A review of the literature and performance of a twin study of the disorder
Anna Carina Schulz, Enrika Bartels, R Stressig, J Ritgen, Eberhard Schmiedeke, Manuel Mattheisen, Markus Draaken, Michael Ludwig, Soyhan Bağcı, Andreas Müller, U. Gembruch, Annegret Geipel, Christoph Berg, Andreas Heydweiller, H Bachour, Johannes Schumacher, Peter Bartmann, Markus M. Nöthen, Heiko Reutter
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Abstract
BACKGROUND: Isolated esophageal atresia (EA) is a rare congenital malformation whose etiology remains largely unknown. Nine twin pairs with EA were identified from our clinical service, prompting the performance of a systematic review of the literature and the first reported twin study of isolated EA. METHODS: A total of 330 twin pairs with EA were identified from the literature. The zygosity, concordance, and malformation (isolated vs. nonisolated) status of all 339 twin pairs were evaluated. A total of 72 twin pairs (4 of 9 / 68 of 330) fulfilled the criteria for inclusion in a classic twin study of isolated EA. RESULTS: The pairwise concordance rates were 50% (95% confidence interval [CI], 34-66%) for monozygous (MZ) twin pairs and 26% (95% CI, 15-42%) for dizygous (DZ) twin pairs (p = 0.033). The probandwise concordance rates were 67% (95% CI, 53-78%) for MZ twin pairs and 42% (95% CI, 29-56%) for DZ twin pairs (p = 0.011). The MZ/DZ ratios were 1.9 for pairwise analysis and 1.6 for probandwise analysis. The familial risk ratios for MZ and DZ twin pairs were 1700 and 900, respectively. CONCLUSION: The observation of higher concordance rates for MZ compared to DZ twin pairs indicates that genetic factors contribute to isolated EA.