Syndromic CDH: Current incidence and outcome. Analysis from the CDHSG Registry.

Syndromic CDH is rare, only 3.4% of the reported cases of CDH have a known syndrome or association, but, if including patients with two dysmorphic features malformations, in addition to CDH, altogether as many as 8.2% have a diagnosed or suspected genetic condition. These children have with lower survival rates. Given higher rates of non-repair and decreased ECLS use, along with a high early mortality, decision-making regarding goals of care clearly influence outcome. Survival varies depending on the genetic cause. Early genetic diagnosis is important and may influence the decision making. This article is protected by copyright. All rights reserved.