HERNIA-study:
congenital diaphragmatic Hernia, Environment, Retinoids, Nutrition, Inheritance, other Associations

Congenital diaphragmatic hernia (CDH) is a major life-threatening cause of
respiratory failure in the newborn. Our current understanding of the
pathogenesis and etiology remains very limited. There is very intriguing
evidence suggesting that abnormalities linked with the retinoid signalling
pathway early in gestation may contribute to the etiology of CDH. This
multicentre study will be pivotal for testing this hypothesis.

- To analyze retinoid levels in plasma and amniotic fluid from infants and
mothers to establish the potential link between retinoids and CDH.
- To establish a registry of blood and tissue samples that will be valuable for
future studies of the pathogenesis and etiology of CDH.
- To analyze the possible relationship between CDH and hereditary and
environmental factors. (analogue to HAVEN-study)

Cohortstudy; data-analysis also as case-control

The burden of participants in this study will be very low. There will be no
specific risks to be taken for this study. All procedures (venapuncture,
amniotic puncture) all have risks of their own, but would also be performed as
standard care in most cases. Mothers will undergo bloodcollection 1 or 2 times
extra.
Fathers will undergo blood collection 1 time extra.
Both parents are asked to fill out questionnaires about, environmental factors
as work etc. Mothers are asked to also fill out a food frequency questionnaire.
The time needed to fill out these forms is about 45-60 minutes per
questionanire.
This study is very important to clarify the etiology of CDH further and
identify groups at risk in future. This gives us more opportunities for
prevention or better (earlier) therapy.