Targeted Carrier Screening for Thalassemia, Hereditary Deafness, and Spinal Muscular Atrophy: A Feasible Approach for Preventing Birth Defects in China's Community Healthcare System.

ABSTRACT:

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 fo

SUBMITTER: Wang Z 

PROVIDER: S-EPMC12823467 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature