BACKGROUND: Etiology of congenital diaphragmatic hernia (CDH) is not yet known. Earlier studies in the literature as far from 1941 reported that nutritional deficiency in vitamin A during pregnancy had lead to CDH, associated or not with other malformations, in young rats. More recently, Dollé (1990) correlated cellular retinol binding protein distribution and the vulnerability of specific tissues to malformation in condition of vitamin A deficiency, and Revenis (1995) reported inadequate vitamin A intake in one month aged babies with severe CDH attributed to the instability of vitamin A in total parenteral nutrition. Unfortunately, little is known regarding the control of fetal vitamin A status, and the lack of a strong correlation between maternal and neonatal concentrations of retinol reported in term infants suggests that the fetus participates in the regulation of retinol transport across the placenta.
METHODS: To verify the original hypothesis of a possible link between fetal vitamin A deficiency and the development of CDH in humans, cord blood specimens or samples obtained during the first hours of life were randomly collected from 5 CDH newborns (without any chromosomal or neural tube defect associated malformation that could interfere with retinol level) concomittantly with cord blood samples randomly collected from 14 healthy newborns with same gestational age (≥ 36 weeks) to serve as control group.
