Etiological aspects of esophageal atresia

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Esophageal atresia (EA) is the most common congenital malformation of the esophagus. Associated anomalies occur in approximately 50% of infants with EA.

The etiology to EA is mainly unknown. In some well defined cases, where EA is part of a syndrome, there have been separate genes identified with a role in the etiology of EA. Data from twin and family studies otherwise show that in the majority of cases genetic factors do not play a major role, which reinforces focus on environmental risk factors. The literature in this field is very sparse, only a limited numbers of potential risk factors have been identified.

The aim of our research is to study specific potential risk factors of a woman in early pregnancy that can lead to EA of the child. We have been using Swedish nationwide population-based health care registers to identify children born with EA and the exposure of the mother to certain environmental risk factors during pregnancy.

For example, our studies indicate an increased risk of EA in children of mothers having their first child and mothers of older age, while risk factors such as smoking, a high BMI and socioeconomic status do not seem to increase the risk.

Jenny Oddsberg, PhD, Department of Molecular Medicine and Surgery

Jesper Lagergren, Professor, PhD, Main supervisor, Department of Molecular Medicine and Surgery
Bengt Karpe & Weimin Ye, Co-supervisors, Department of Molecular Medicine and Surgery

Contact: Jenny Oddsberg, PhD