Conclusion

In conclusion, this study verifies that integrating LRS-based genetic testing with conventional biochemical detection serves as an optimized and effective newborn screening strategy for CAH. This combined model markedly lowers false-positive and recall rates, relieves parental concerns, and substantially elevates overall screening efficiency. Meanwhile, this work confirms the clinical performance of targeted LRS genetic screening, which acts as a valuable supplementary tool for primary CAH screening. It effectively decreases false-positive and false-negative results, accelerates diagnostic procedures, and enables simultaneous identification of affected patients and gene carriers. Although our findings support the promising application prospect of LRS in CAH newborn screening, large-sample multicenter prospective trials are still needed to fully assess its clinical practicability and economic benefits in population-scale screening. Such evidence will facilitate the widespread clinical adoption and popularization of this screening modality.