Urgent need for newborn targeted sequencing screening technology in Shandong Province, China

China's newborn screening (NBS) system, initiated over four decades ago with dual-disease detection [phenylketonuria (PKU) and congenital hypothyroidism (CH)], has progressively expanded to encompass congenital adrenocortical hyperplasia (CAH) and glucose-6-phosphate dehydrogenase (G6PD) deficiency, achieving nationwide universal coverage.This systematic progression has substantially elevated diagnostic rates for these disorders, enabling timely therapeutic interventions [1].Over the past two decades, technological innovations-notably the integration of tandem mass spectrometry (MS/MS) platforms in pioneering regions such as Shanghai and Zhejiang-have extended NBS to over 40 inherited metabolic diseases (IMDs).The socioeconomic benefits of MS/MS-based large-scale IMD screening have driven its widespread adoption, with annual screening volumes exceeding tens of millions, thereby enhancing birth cohort health outcomes [2].Currently, over 100 neonatal screening centers nationwide utilize MS/MS platforms for IMD detection.Jinan City, Shandong Province, exemplifies progressive IMD screening through its fully subsidized, population-wide NBS program.This study synthesizes epidemiological data from Shandong Province (2023) and Jinan City (2019City ( -2024) ) to delineate disease prevalence patterns, benchmarked against national and global rates.Our analysis underscores the imperative for implementing next-generation sequencing (NGS)-based genetic screening as a primary NBS modality in Shandong Province.