We conducted a genome-wide association study involving 224 cases and 383 controls of Central European origin to identify susceptibility loci for nonsyndromic cleft lip with or without cleft palate (NSCL/P). A 640-kb region at chromosome 8q24.21 was found to contain multiple markers with highly significant evidence for association with the cleft phenotype, including three markers that reached genome-wide significance. The 640-kb cleft-associated region was saturated with 146 SNP markers and then analyzed in our entire NSCL/P sample of 462 unrelated cases and 954 controls. In the entire sample, the most significant SNP (rs987525) had a P value of 3.34 x 10(-24). The odds ratio was 2.57 (95% CI = 2.02-3.26) for the heterozygous genotype and 6.05 (95% CI = 3.88-9.43) for the homozygous genotype. The calculated population attributable risk for this marker is 0.41, suggesting that this study has identified a major susceptibility locus for NSCL/P.

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Objectives To systematically review the diagnostic accuracy of second-trimester transabdominal ultrasound in detecting orofacial clefts in low-and high-risk populations and to compare two-dimensional (2D) with three-dimensional (3D) ultrasound techniques.Methods MEDLINE and EMBASE were searched for articles published in English, Dutch, French or German using the keywords 'cleft' and 'ultrasound' or 'screening' or 'sonogram' and 'prenatal' or 'antenatal' or 'fetus

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