A Feasibility Study to Identify Selected Factors Influencing the Incidence of Oral Clefts in Offspring of Families Bearing Cleft Lip Children

摘要

In a study of metabolic, endocrine and environmental factors in 59 women who had delivered a child with cleft lip palate (affecteds), compared with 56 mothers of unaffected children (controls), the only significant differences found were in serum alkaline phosphatase, creatinine, and creatinine clearance. No differences were found in glucose tolerance, serum or erythrocyte folate, vitamin A, carotene, prolactin, T4, corticoids, or urinary 17 hydroxy-steroids, keto-steroids, total estrogens, or pregnanediol. In nine mothers of affected children and fifteen controls studied early in the first trimester of pregnancy, the serum folate, serum prolactin, and 24 hour urinary pregnanediol were lower in affected compared with the controls. When these patients were not pregnant, creatinine clearance and serum and erythrocyte folate levels were lower in affected mothers than controls. Of 22 affected and 18 controls studied during the late 1st trimester of pregnancy, serum alkaline and phosphatase, SGOT, creatinine and vitamin A were higher in affected mothers than controls and 24 hour urinary pregnanediol was lower in the affected than controls. When these patients were not pregnant, the glucose tolerance and 24 hour urinary 17 keto-steroids were lower in mothers of affected children. The authors also evaluated phenytoin metabolism, pharamacokinetics and interaction with folic acid in mothers of children with cleft lip. In the control group phenytoin treatment caused a significant reduction in the peak folate concentration, whereas this was not observed in the affected group. No significant difference in phenylalanine tolerance testing was noted between the affected and the control group.