title: Prenatal detection and early diagnosis of hereditary retinoblastoma in a family.
abstract: A couple asked for prenatal testing, the husband being a retinoblastoma survivor. Family history suggested that the tumor predisposing mutation came from his paternal side. DNA analysis indicated that the foetus had not inherited that mutation. Detection of a regressed retinoblastoma in the husband's mother changed the interpretation of the haplotypes obtained, and it was concluded that the foetus had inherited the mutation. Ultrasonography on the 3rd day of extra-uterine life showed a retinal mass in the newborn's left eye. Two years later, the couple asked for a new prenatal diagnosis. DNA analysis showed that the foetus had inherited the mutant retinoblastoma haplotype from the father. Fundus examination on the 2nd day of extra-uterine life showed a retinal lesion in the newborn's left eye at the posterior pole. This case indicates the necessity of a thorough check on history and an ophthalmological examination of family members.
authors.affiliation: Department of Ophthalmology, H.S. Raffaele, University of Milan, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Pierro
authors.forename: R
authors.initials: R
authors.lastname: Brancato
authors.forename: C
authors.initials: C
authors.lastname: Capoferri
mesh_terms: D000328:Adult; D015193:Chorionic Villi Sampling; D004273:DNA, Neoplasm / Q000032:analysis; D005134:Eye Neoplasms / Q000000981:diagnostic imaging* / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006239:Haplotypes; D006801:Humans; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D012175:Retinoblastoma / Q000000981:diagnostic imaging* / Q000235:genetics; D016216:Ultrasonography, Prenatal
chemical_list: D004273:DNA, Neoplasm