[Diagnosis a fetus with Coffin-Siris syndrome due to variant of SMARCA4 gene by whole exome sequencing].

OBJECTIVE

To explore the clinical phenotype and genetic basis for a fetus suspected for Coffin-Siris syndrome.

METHODS

Chromosomal microarray analysis (CMA) and whole exome sequencing (WES) were carried out for the fetus. Candidate variant was verified by Sanger sequencing.

RESULTS

Prenatal ultrasound at 23rd gestational week has revealed fetal ventriculomegaly. No abnormality was found by CMA, while WES revealed that the fetus has harbored a de novo heterozygous c.2851G>A (p.G951R) variant of the SMARCA4 gene, which was predicted to be pathogenic.

CONCLUSION

Genetic testing should be considered for fetuses featuring progressive widening of lateral cerebral ventricles.