Familial recurrence of gastroschisis: Literature review and data from the population-based birth registry “Mainz Model”

BackgroundFamilial forms of gastroschisis are considered rare. A search for these forms in a population-based birth registry in 1993 found a recurrence risk of 3.5% among first-degree relatives. Since then, similar investigations in population-based registries have led to contradictory results.MethodsA search of the population-based birth registry “Mainz Model” for familial cases of gastroschisis and a systematic review of the literature were performed.ResultsThe Mainz Model database yielded 1 familial recurrence out of 27 gastroschisis cases. From the literature, 37 affected families could be retrieved. Among 412 gastroschises from population-based registries, 10 familial recurrences have been found. These translate into a recurrence risk of 2.4%, with a strong tendency toward underestimation.ConclusionThe existing data support the hypothesis that familial recurrence of gastroschisis is much more likely than previously thought.