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Targeted Carrier Screening for Thalassemia, Hereditary Deafness, and Spinal Muscular Atrophy: A Feasible Approach for
Zhihui Wang1, Wenjing Bai2, Xiaohe Cai1
1Department of Gynecology and Obstetrics, Wenzhou Central Hospital, Wenzhou, China.
Background:
While carrier screening is crucial for preventing birth defects, a significant gap exists between comprehensive screening guidelines and the practical barriers-cost, complexity, and compliance-faced by community healthcare in China. This study evaluates the real-world feasibility and clinical effectiveness of a targeted screening program for thalassemia, hereditary deafness, and spinal muscular atrophy in community health settings in China.
Methods:
A total of 7068 pregnant women attending the prenatal clinic at Wenzhou Central Hospital underwent genetic carrier screening from February 2020 to June 2024. The screening focused on hotspot variants using NMPA-approved kits. A two-tiered counseling model was implemented, and clinical effectiveness was assessed via a four-year follow-up using hospital and birth defect registries.
Results:
The screening program identified 1067 carriers, with an overall carrier rate of 15.1%. Among 72 couples with pathogenic variants in the same gene, 12 fetuses were found to be at "abnormal risk." Crucially, the four-year follow-up revealed no false-negative cases for the targeted severe conditions, demonstrating high clinical effectiveness and a robust negative predictive value.
Conclusion:
This targeted screening program is a clinically effective, cost-conscious, and regulatively compliant framework for preventing severe genetic disorders in China. By strategically balancing clinical impact with economic and logistical realities, this model provides a valuable, replicable approach to improving maternal and child health.
