Case Report: Compound heterozygous CEP152 c.3346-5T>C variant and chr15 deletion causing recurrent MCPH–SCKS in a Chinese pregnant woman across two consecutive pregnancies

This study represents the first report of identical compound heterozygous <i>CEP152</i> variants causing MCPH-SCKS in two consecutive pregnancies. The independent occurrence in the second pregnancy not only confirms the pathogenicity of this variant combination but also provides clinical evidence for the 25% recurrence risk of autosomal recessive disorders. Furthermore, this report underscores the critical importance of comprehensive genetic testing, including CNV analysis, for the prenatal diagnosis of MCPH-SCKS, offering valuable guidance for genetic counseling and prenatal intervention in similar families.