ArticleFrontiers in medicine2026
Genetic testing and reproductive decision-making in Chinese families with inherited retinal disease: a cross-sectional study.
Article in Frontiers in medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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10 authors.
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Abstract
Purpose: To identify variables associated with parental willingness toward genetic testing (GT) and subsequent reproductive (SR) intentions via natural conception (NC) or assisted reproductive technology (ART) among Chinese families with inherited retinal diseases (IRDs). Methods: Cross-sectional study of 136 children with IRDs and their biological parents at two academic referral centers in Shanghai, China (September 2023 to March 2024). Parents were surveyed on demographics, clinical characteristics, parent-reported outcome measures (ROMs) for psychosocial and economic burden, and willingness toward GT and SR. Formal genetic counseling was not available at participating centers. Results: Among 136 children [mean (SD) age, 7.10 (4.32) years; 50 (36.8%) female and their parents [mean (SD) age, 34.4 (5.8) years; 84 (61.8%) mothers], 72.1% had or were willing to undergo GT. GT willingness was positively associated with child age under 12 (OR, 1.61; Conclusion: Parental GT and SR decision-making was shaped by clinical and psychosocial factors, underscoring the need for genetic counseling at IRD referral centers.
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