The first prenatal diagnosis of EMC10-Related neurodevelopmental disorder: Expanding the phenotypic and mutational spectra through a case and literature review

OBJECTIVE: To characterize the first prenatal diagnosis of EMC10-related neurodevelopmental disorder (NEDDFAS), delineate its previously unreported prenatal phenotypes, and contextualize the findings through a comprehensive review of published cases. CASE REPORT: We report the first prenatal diagnosis of NEDDFAS in a non-consanguineous Chinese family, identifying novel compound heterozygous truncating variants (c.183del, p.I62Sfs43; c.520dup, p.E174Gfs24). The fetus presented with progressive unilateral lateral ventricle dilatation and polyhydramnios, a prenatal phenotype not previously described in EMC10-related disease. Exome sequencing enabled molecular diagnosis, informed reproductive decision-making, and provided guidance for future pregnancies. Review of 30 previously reported patients highlights consistent postnatal features including global developmental delay, intellectual disability, facial dysmorphism, and variable neuroimaging findings. CONCLUSION: This case expands the prenatal phenotypic spectrum, ethnic distribution, and mutational spectrum of EMC10-related disease, emphasizing the utility of prenatal genetic testing in fetuses with evolving intracranial anomalies and polyhydramnios.