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.