Prenatal Diagnosis of Retinoblastomas: A Scoping Review

Aurora Rodriguez,1 Caitlin Kelley,1 Anjali Patel,1 Aparna Ramasubramanian2 1School of Medicine, Creighton University, Phoenix, AZ, USA; 2Ophthalmology Department, Phoenix Children’s Hospital, Phoenix, AZ, USACorrespondence: Aparna Ramasubramanian, Ophthalmology Department, Phoenix Children’s Hospital, 1919 E Thomas Road, Phoenix, AZ, 85016, USA, Tel +1 602-933-3937, Fax +1 602-933-2409, Email aramasubramanian@phoenixchildrens.comPurpose: The objective of this review is to explore the prenatal diagnosis of retinoblastoma and the recommended screening practices.Patients and Methods: An electronic literature search on prenatal diagnosis of retinoblastoma was conducted on the PubMed database. Publications within the last 20 years that matched the inclusion criteria were selected. The literature search included the following keywords: retinoblastoma, prenatal, diagnosis, screening, and associated synonyms to increase search sensitivity. Nine studies were included for investigation and extracted to identify prenatal diagnostic and screening techniques for retinoblastoma, their associated impact, and the target population that should receive prenatal screening for retinoblastoma.Results: Familial retinoblastoma has an autosomal inheritance pattern and 90% penetrance. Therefore, future parents with a family history of retinoblastoma are strongly advised to get tested for retinoblastoma (Rb) gene mutations; if one of the parents is positive for a mutated allele of the RB1 gene, there is a 45% chance that their child will inherit a mutated allele of the retinoblastoma gene, rendering the allele non-functional in all of the cells of the individual and predisposing the child to a higher risk of developing retinoblastoma as well as other secondary cancers. Thus, prenatal screening and diagnosis of retinoblastoma is crucial for early diagnosis and optimal treatment.Conclusion: Prenatal testing for retinoblastoma in high-risk families is important for everyone in the family. F