Congenital diaphragmatic hernia (CDH) can occur as an isolated finding, as part of a genetic syndrome or chromosome abnormality, or with additional birth defects of unknown cause. Some cases have been linked to in utero exposures. In the majority of cases, the cause is not known.
Last updated: 3/7/2017
Can an environmental exposure during pregnancy cause congenital diaphragmatic hernia?
No cases of congenital diaphragmatic hernia (CDH) in humans have been unequivocally proven to be caused by teratogens or environmental exposures. A potential association between one syndromic case of CDH (associated with Fryns syndrome-like phenotype) and the immunosuppressive drug mycophenolate mofetil (MMF) has been reported. MMF may also be associated with diaphragmatic hernia in developing rabbits. The mechanism by which MMF could cause a diaphragmatic defect is not known. One retrospective questionnaire study has also reported an association of CDH with maternal alcohol use.
Retinoic acid and vitamin A are known to affect many aspects of development, but their potential involvement in cases of isolated CDH is unclear. One small study showed decreased levels of retinol in newborns with CDH compared to controls, but larger ongoing studies are needed to determine the extent of this association.
Last updated: 11/27/2012
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