Peer-reviewed article
Genetic testing and reproductive decision-making in Chinese families with inherited retinal disease: a cross-sectional study.
Gu VY, Guo J, Zhang X, Zhang W, Liu H et al. ·
Summary
Written by AI, not yet AICS's view · claude-haiku-4-5-20251001This is a medical study about genetic testing and family planning decisions among Chinese parents whose children have inherited retinal diseases. The study surveys 136 families to understand what factors influence parents' willingness to undergo genetic testing and their intentions regarding having more children. While the research touches on child health, it is primarily focused on parental reproductive decision-making and genetic counseling rather than on children's well-being outcomes.
Key points
- 72.1% of surveyed parents had or were willing to undergo genetic testing
- Parents were more willing to consider assisted reproductive technology (52.2%) than natural conception (39.7%) for future children
- Parental vision impairment was associated with greater willingness for both reproductive approaches
- Reasons for declining genetic testing differed by child gender: parents of boys cited fear of test results, while parents of girls cited cost
- Genetic counseling was not available at the participating medical centers
Limitations
This study focuses on parental decision-making rather than child health outcomes or well-being. It does not evaluate the effectiveness of any intervention or provide evidence about how genetic testing or reproductive choices actually affect children's lives.
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; P = 0.019), married status (OR, 5.94; P = 0.016), and IRD-related strife (OR, 3.61; P = 0.014), and negatively with parental severe vision impairment (OR, 0.19; P = 0.012). Child gender predicted unwillingness rationale (P = 0.002); parents of males cited apprehension about results, while parents of females cited cost. Most parents indicated SR unwillingness (NC: 60.3%; ART: 52.2%), with greater willingness toward ART than NC (P = 0.041). Both SR types were positively associated with parental vision impairment (NC: OR, 7.67; P = 0.029; ART: OR, 4.82; P = 0.046). Conclusion Parental GT and SR decision-making was shaped by clinical and psychosocial factors, underscoring the need for genetic counseling at IRD referral centers.