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At What Age Could Screening for Familial Retinoblastoma Be Stopped?: Revised Dutch Retrospective Population-Based
Nuray A Badalova1, Milo van Hoefen Wijsard1, Charlotte J Dommering2
1Department of Ophthalmology, Amsterdam University Medical Center, Cancer Center Amsterdam, Amsterdam, The Netherlands.
Insights
Early, systematic screening for familial retinoblastoma (Rb) diagnoses all cases within the first year. This allows for earlier discontinuation of screening protocols for at-risk children, improving efficiency and safety.
Area of Science:
- Ophthalmology
- Genetics
- Pediatric Oncology
Background:
- Familial retinoblastoma (Rb) requires early detection through screening protocols.
- Optimizing screening duration is crucial for managing healthcare resources and patient burden.
Purpose of the Study:
- Determine the latest age of diagnosis for familial retinoblastoma in infants screened from birth.
- Assess implications for refining current screening protocols.
Main Methods:
- Retrospective cohort study utilizing nationwide Dutch Rb registry data (1991-2019).
- Included 38 children with familial Rb (28 completely screened, 10 incompletely screened).
- Extracted data on genetic testing, screening, timing, and age at diagnosis from medical records.
Main Results:
- All 28 completely screened children were diagnosed before age one (median 18 days).
- 82.1% of completely screened children diagnosed within six months.
- Incompletely screened children had a median diagnosis age of 420 days, with over half diagnosed after one year.
Conclusions:
- Systematic, birth-initiated screening by specialists diagnoses familial Rb within the first year.
- Findings support earlier screening cessation, leading to revised protocols for low-risk familial Rb (<3%) screened until age 2.
- Centralized, standardized protocols optimize screening duration, reduce healthcare burden, and ensure safety.
Purpose:
To determine the latest age at which familial retinoblastoma (Rb) is diagnosed in children screened from birth and to assess the implications for optimizing screening protocols.
Design:
Retrospective cohort study using nationwide data from the Dutch Rb registry, covering diagnoses from 1991 through 2019.
Participants:
The study included 38 children with familial Rb, 28 of whom were screened completely from birth according to a standardized protocol, and 10 who were considered incompletely screened.
Methods:
Data on genetic testing, screening methods, timing, and age at diagnosis were extracted from medical records at Amsterdam University Medical Center.
Main Outcome Measures:
Age at diagnosis of familial Rb, categorized by complete versus incomplete screening status.
Results:
All 28 completely screened children received a diagnosis before 1 year of age, with a median age at diagnosis of 18 days (range, 3-352 days). Sixteen children (57.1%) received a diagnosis at the first examination within the first month after birth, and 82.1% received a diagnosis within the first 6 months. Among 10 incompletely screened children, the median age at diagnosis was 420 days (range, 59 days-4.8 years), with more than half of children receiving a diagnosis after 1 year.
Conclusions:
Systematic screening of at-risk children from birth, performed by specialized ophthalmologists and followed by examinations under general anesthesia beginning at a few months of age, resulted in all cases of familial Rb being diagnosed within the first year of life. These findings support an earlier discontinuation of screening than previously recommended. As a result, we revised our screening protocol for a specific subset of at-risk children: those with a low estimated risk (< 3%) of familial Rb are now screened only until the age of 2. The study emphasized the importance of centralized, standardized protocols to optimize screening durations and to reduce health care burdens while maintaining safety for at-risk populations.
Financial Disclosure(S):
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
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