High prevalence of orofacial clefts in Shanxi Province in northern China, 2003–2004


  • How to cite this article: Li Z, Ren A, Liu J, Zhang L, Ye R, Li S, Li Z. 2008. High prevalence of orofacial clefts in Shanxi Province in northern China, 2003–2004. Am J Med Genet Part A 146A:2637–2643.


Shanxi Province in northern China has been identified as an area with the highest prevalence of neural tube defects in the world; however, few reports exist on the prevalence of orofacial clefts (OFC). We examined the prevalence of OFC and their association with selected characteristics. Data came from a population-based birth defects surveillance system in four counties of Shanxi Province. The system captures information on all live births, stillbirths of at least 20 weeks gestation, and pregnancy terminations at any gestational age after prenatal diagnosis of a birth defect. Out of 25,355 births in 2003–2004, 83 cases with orofacial clefts were identified resulting in a birth prevalence of 3.27 per 1,000. Other major external birth defects were present in 12 (14.5%) OFC cases. Cleft lip with palate (CLP), cleft lip alone (CL) and cleft palate alone (CP) accounted for 62.0%, 29.6% and 8.4% of OFC cases without additional external defects, respectively. The male to female ratio was 1.04 (95%CI: 0.67–1.60) for all OFC, 1.46 (95%CI: 0.80–2.68) for CLP, 1.23 (95%CI: 0.52–2.91) for CL, 0.46 (95%CI: 0.08–2.51) for CP without additional major external defects, and 0.31(95%CI: 0.08–1.13) for OFC with additional external defects. The prevalence of OFC without additional external defects was increased with decreased maternal age (P < 0.05) and increased maternal education (P < 0.05). The birth prevalence of OFC in Shanxi Province of northern China is among the highest worldwide. Further studies are required to define the factors associated with excess risk of clefts. © 2008 Wiley-Liss, Inc.