Abstract:

We report a case of fetal cerebral tumor and family genetic analysis. In this case, the dimensional ultrasound showed the mixed intracranial echoes in the 24 weeks fetus. On the basis of that, the intracranial space-occupying lesion was considered. Ultrasound re-examination confirmed this consideration. The head magnetic resonance imaging (MRI) at 25 weeks of gestation age showed that the tumor were in the front of the fetal brainstem, and that the adjacent tissues were compressed and displaced. The second fetal MRI scan was done at 29 weeks of gestation age. This MRI showed that the tumor volume had increased. At 30⁺¹ weeks, the mother of the fetus decided to have the option of labor induction. The postoperative pathological diagnosis was consistent with the MRI diagnosis. Whole exome sequencing did not find the pathogenic gene variation, but showed three gene variants with unclear significance. However, there was an interesting phenomenon. The ERBB2 gene variant c.3139C>T p.P1047Ss that originated from the father, was also detected in a cousin girl of the fetus in this family. Therfore, we considered that gliomas with ERBB2 gene mutation may be a family cluster.

Key words: Magnetic resonance imaging, Fetus, Brain neoplasms, Glioma, Ultrasonography, Prenatal diagnosis