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New research · Ophthalmology
Frontiers in medicine · 5d
Cross-sectionalFrontiers in medicine · 2026

Genetic testing and reproductive decision-making in Chinese families with inherited retinal disease: a cross-sectional study.

Victoria Y Gu, Jingli Guo, Xuerui Zhang … Peiquan Zhao
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OphthalmologyCross-sectional

Most Chinese parents of children with inherited retinal disease are willing to get genetic testing.

Genetic testing and reproductive decision-making in Chinese families with inherited retinal disease: a cross-sectional study.

Victoria Y Gu … Peiquan Zhao
Frontiers in medicine · 2026
Purpose

To identify variables associated with parental willingness toward genetic testing (genetic testing) and subsequent reproductive (subsequent reproductive) intentions via natural conception (natural conception) or assisted reproductive technology (assisted reproductive technology) among Chinese families with inherited retinal diseases (inherited retinal diseases).

Methods

Cross-sectional study of 136 children with inherited retinal diseases and their biological parents at two academic referral centers in Shanghai, China (September 2023 to March 2024).

n = 136 children
72.1%
Results
72.1%
72.1% of parents were willing to undergo genetic testing for inherited retinal disease.
n = 136 children
More results

Genetic testing willingness was positively associated with child age under 12 (OR, 1.61; P = 0.019), married status (OR, 5.94; P = 0.016), and inherited retinal diseases-related strife (OR, 3.61; P = 0.014), and negatively with parental severe vision impairment (OR, 0.19; P = 0.012).

More results

Child gender predicted unwillingness rationale ( P = 0.002); parents of males cited apprehension about results, while parents of females cited cost.

“
Conclusion

Parental genetic testing and subsequent reproductive decision-making was shaped by clinical and psychosocial factors, underscoring the need for genetic counseling at inherited retinal diseases referral centers.

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