A large retinoblastoma detected in a fetus at 21 weeks of gestation.
The facial tumour described here is the first reported case of a large retinoblastoma detected early in pregnancy and adds another item to the differential diagnosis of facial tumours visualized by prenatal ultrasound examination. Ultrasound examination of the fetal eyes can be offered in cases of retinoblastomas where prenatal DNA diagnosis is otherwise impossible.
Maat-Kievit
J A
JA
Department of Clinical Genetics, University Hospital, Leiden, The Netherlands.
Oepkes
D
D
Hartwig
N G
NG
Vermeij-Keers
C
C
van Kamp
I L
IL
van de Kamp
J J
JJ
D000328:Adult; D003937:Diagnosis, Differential; D005134:Eye Neoplasms / Q000000981:diagnostic imaging* / Q000473:pathology; D005153:Facial Neoplasms / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D011263:Pregnancy Trimester, Third; D012175:Retinoblastoma / Q000000981:diagnostic imaging* / Q000473:pathology; D012307:Risk Factors; D016216:Ultrasonography, Prenatal