Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024
The majority of IMD patients in Huai'an carried pathogenic or potentially pathogenic variants identified through expanded newborn screening. Although MS/MS newborn screening followed by NGS confirmation cannot prevent the occurrence of IMDs, timely diagnosis combined with appropriate treatment and management can effectively prevent morbidity, reduce mortality, and support long-term symptom control. Overall, this study demonstrates that MS/MS-based newborn screening combined with molecular diagnosis was highly effective for the study early detection and management of IMDs in the Huai'an population.
Authors
- Chuntao Sun
- Lingli Kong (ORCID: https://orcid.org/0000-0002-5808-2649)
- Xin Yang (ORCID: https://orcid.org/0000-0003-2281-9079)
- Li Zhang (ORCID: https://orcid.org/0000-0003-0665-8885)
- Jun Zheng (ORCID: https://orcid.org/0000-0001-5972-0027)
- Yumei Wang (ORCID: https://orcid.org/0000-0002-0095-9057)
- Xiaofei Lin (ORCID: https://orcid.org/0000-0002-8968-3818)
- Pei-Ying Zhang (ORCID: https://orcid.org/0000-0002-7069-1594)
- Linxin Zhang (ORCID: https://orcid.org/0000-0002-1590-100X)
- Ming-ming Ou
Institutions
- Xuzhou Medical College (CN)
- Second People’s Hospital of Huai’an (CN)
- Huzhou Women and Children's Hospital (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-11-21
- DOI
- https://doi.org/10.3389/fped.2025.1629840
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Jiangsu Commission of Health