Prenatal screening for retinoblastoma in Hong Kong

Charles SL Lau, KW Choy, Dorothy SP Fan, Christopher BO Yu, CY Wong, Dennis SC Lam, CP Pang
Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Shatin, Hong Kong

We report the first use in Hong Kong of molecular techniques to screen prenatally for retinoblastoma and review 17 cases of retinoblastoma seen at the Hong Kong Eye Hospital from 2001 to 2006. A pregnant couple whose first child had retinoblastoma requested prenatal screening for retinoblastoma during their second pregnancy in 2000. Whole RB1 coding gene sequencing was performed on peripheral blood cells taken from family members and cultured amniocytes collected from the foetus during the 14th week of gestation. No RB1 gene mutations were found in the amniocyte samples and at birth the baby had no evidence of ocular tumours. During 5 years of follow-up the child remained healthy with intact visual function. Prenatal diagnosis of retinoblastoma alleviates parental stress and improves the perinatal care of affected family members.

Hong Kong Med J 2008;14:391-4

Key words: Eye neoplasms; Mutation; Prenatal diagnosis; Retinoblastoma; Tumor cells, cultured