Fetal Familial Cerebral Cavernous Malformation With a Novel Heterozygous KRIT1 Variation

To identify fetal familial cerebral cavernous malformation (CCM) and a novel variation.A 37-year-old pregnant woman (G4P0) presented with right-handed numbness since 2 weeks at 31 weeks of gestation. Evaluation with brain MRI revealed multiple CCMs. As a result, fetal MRI, fetal whole exome sequencing, and maternal Sanger sequencing were performed.The mother's brain MRI demonstrated numerous CCMs involving the brain stem, cerebral hemispheres,...