Vitamin and homocysteine status of mothers and infants and the risk of nonsyndromic orofacial clefts

Objective This study was undertaken to investigate the involvement of maternal and infant B vitamins and homocysteine as risk factors for orofacial clefting. Study design Venous blood samples were taken from 96 infants with nonsyndromic orofacial clefts and 88 infants without a congenital malformation and from their mothers at approximately 14 months after the index pregnancy. Red blood cell and serum folate, serum vitamin B12, whole blood vitamin B6 as pyridoxal-5′-phosphate (PLP), and plasma homocysteine concentrations were measured. Results A vitamin B12 concentration of 185 pmol/L or less and a PLP concentration of 44 nmol/L or less in mothers increased the risk of having a child with an orofacial cleft (odds ratio [OR] = 3.1; 95% CI: 1.3-7.4, OR = 2.9; 95% CI: 1.2-7.1, respectively). Infants with orofacial clefts had a 15% lower serum folate concentration compared with controls (P = .06). Conclusion A low vitamin B12 and PLP concentration in mothers increased the risk of orofacial clefts in the offspring. A possible role of the infantʹs folate status is suggested.