Introduction: Non-syndromic cleft lip with or without cleft palate (CL/P) is one of the most common malformations of the gastrointestinal tract; however, its aetiology is still unclear. Myristic and palmitic acids are key components of a typical Western diet. Some evidence was observed for increased CL/P risk with the highest scores of maternal saturated fat intake. Acylcarnitines may regulate embryonic development.

Aim: Analyse associations of neonatal C14 and C16 acylcarnitines with CL/P risk.

Material and methods: We performed a retrospective analysis of concentrations of C14 and C16 acylcarnitines obtained from a newborn screening programme. Concentrations of whole blood acylcarnitines were measured using tandem mass spectrometry (MS/MS). The study group consisted of 64 children with CL/P. One hundred and thirty healthy children

without congenital anomalies served as controls. Classification and Regression Tree (CART) analysis was used to explore the influence of C14 and C16 acylcarnitines on the child’s risk of being born with an orofacial cleft.

Results: The mean (SD) concentration of tetradecenoylcarnitine (C14:1) was lower in newborns with CL/P compared with controls: 0.157 (0.053) µmol/l vs. 0.202 (0.093) µmol/l, p < 0.00002, respectively. The CART selected two factors associated with CL/P risk: a low level of tetradecenoylcarnitine (< 0.177 µmol/l) and a high level of palmitoylcarnitine (> 4.955 µmol/l).

Conclusions: The study provides initial data indicating a po­tential association between acylcarnitine profiles and CL/P risk. MS/MS can be considered as a promising investigation tool to better understand the biochemical background of orofacial clefts.