Retinoblastoma

Pediatrics

Gene

Penetrance

Retrospective cohort study

Enucleation

Biology

Internal medicine

Phenotype

Surgery

Genetics

Medicine

Cohort

Ophthalmology

Purpose To compare overall outcomes of conventional postnatal screening of familial retinoblastoma and prenatal RB1 mutation identification followed by planned early-term delivery. Design Retrospective, observational study. Participants Twenty children with familial retinoblastoma born between 1996 and 2014 and examined within 1 week of birth. Methods Cohort 1 included spontaneously delivered neonates examined within 1 week of birth and confirmed postnatal to carry their family's RB1 mutant allele. Cohort 2 included infants identified by amniocentesis to carry their family's RB1 mutant allele, and therefore scheduled for early-term delivery (36–38 weeks' gestation). Treatment for retinoblastoma was performed at the Hospital for Sick Children, Toronto, Canada. Main Outcome Measures Age at first tumor in each eye, eye stage, treatments given, ocular salvage, treatment success (defined as avoidance of enucleation, external-beam irradiation, or both), visual outcome, number of anesthetics, pregnancy or delivery c...

Prenatal versus Postnatal Screening for Familial Retinoblastoma