Ultraschall Med 2008; 29 - S1_OP4
DOI: 10.1055/s-2008-1080759

Prenatal diagnosis of a fetal sarcoma in the orbita – additional information by fetal MRI in rare disease

M Hoopmann 1, F Körber 2, C Porschen-Wiesmann 1, P Mallmann 1
  • 1Department of Gynecology and Obstetrics, University Hospital of Cologne, Köln
  • 2Department of pediatric radiology, University hospital of Cologne, Köln

A 25 year old woman, gravida 1, para 0 was referred for further diagnostic work up of an unclear tumor of the fetal face at 31+1 weeks of gestation. The healthy consanguineous partners were of Turkish origin. There were no known abnormalities in the family history. Karyotyping by amniocentesis was normal (46, XX). Fetal ultrasound revealed a solid tumor of 4.3×3.7×3.4 cm behind the right bulbus oculi with a origin in the orbita. The growth seemed to be expansive but infiltration in surrounding bones could not suffiently be excluded. The working diagnosis was a teratoma. The examinations one week later showed an rapid growth of ~1cm in all diameters. The fetal MRI could reveal areas of infiltration in the middleface and frontal base. So a malignant tumor was suspected and a caesarean section after RDS-prophylaxis was indicated. At 32+2 weeks of gestation the girl with a weight of 1800g was delivered.

A biopsy of the tumor for histological examination could identify an undifferentiated sarcoma. At the 5th day of live a chemotherapy with Doxorubicin, Vincristine and Cyclophosphamid corresponding to the N4 cycle of the neuroblastoma-protocol NB2004 was started. In the next few months chemotherapy achieved good initial local response, but a MRI performed in the age of 4 months revealed metastases in the cerebellar, thalamic and retinal region. Because of the development of metastases under treatment with chemotherapy, strategy was changed into a palliative one, under which the tumor showed rapid progress and the child passed away in the following days.

Sarcoma in fetus is very rare and has a limited prognosis. Chemotherapy could not achieve stable disease. There is a current trend to involve fetal MRI in prenatal cases of pathology in CNS. This case report demonstrates additional information by prenatal MRI i.e. in evaluation of infiltration in bone. It is a useful tool in monitoring therapy response and screening for recurrence.