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- Title
Newborn Screening for 6 Lysosomal Storage Disorders in China.
- Authors
Chang, Siyu; Zhan, Xia; Liu, Yuchao; Song, Huanlei; Gong, Zizhen; Han, Lianshu; Maegawa, Gustavo H. B.; Gu, Xuefan; Zhang, Huiwen
- Abstract
This cohort study investigates prevalence of 6 lysosomal storage disorders and their subclinical forms among newborns in Shanghai, China. Key Points: Question: What are the birth prevalence and subclinical forms of the 6 lysosomal storage disorders (LSDs) in the Shanghai population? Findings: In this cohort study of 50 108 newborns in Shanghai, tandem mass spectrometry (MS/MS)–based newborn screening for 6 LSDs identified 353 newborns who were positive. Further molecular, biochemical, and clinical analysis confirmed 27 of these newborns (1 in 1856 live births), among whom 3 newborns (11.1%) had early-onset clinical forms and 24 newborns (88.9%) had later-onset forms. Meaning: These findings suggest that expanded newborn screening for LSDs in China is warranted; the high birth prevalence and clinical subtype ascertainment support the application of MS/MS to serve as a first-tier screening approach. Importance: Newborn screening (NBS) for lysosomal storage disorders (LSDs) is becoming an increasing concern in public health. However, the birth prevalence of these disorders is rarely reported in the Chinese population, and subclinical forms of diseases among patients identified by NBS have not been evaluated. Objective: To evaluate the birth prevalence of the 6 LSDs in the Shanghai population and determine subclinical forms based on clinical, biochemical, and genetic characteristics. Design, Setting, and Participants: This cohort study included 50 108 newborns recruited from 41 hospitals in Shanghai between January and December 2021 who were screened for 6 LSDs using tandem mass spectrometry (MS/MS). Participants with screen-positive results underwent molecular and biochemical tests and clinical assessments. Data were analyzed from January 2021 through October 2022. Exposures: All participants were screened for Gaucher, acid sphingomyelinase deficiency (ASMD), Krabbe, mucopolysaccharidosis type I, Fabry, and Pompe diseases using dried blood spots. Main Outcomes and Measures: Primary outcomes were the birth prevalence and subclinical forms of the 6 LSDs in the Shanghai population. Disease biomarker measurements, genetic testing, and clinical analysis were used to assess clinical forms of LSDs screened. Results: Among 50 108 newborns (26 036 male [52.0%]; mean [SD] gestational age, 38.8 [1.6] weeks), the mean (SD) birth weight was 3257 (487) g. The MS/MS-based NBS identified 353 newborns who were positive. Of these, 27 newborns (7.7%) were diagnosed with 1 of 6 LSDs screened, including 2 newborns with Gaucher, 5 newborns with ASMD, 9 newborns with Krabbe, 8 newborns with Fabry, and 3 newborns with Pompe disease. The combined birth prevalence of LSDs in Shanghai was 1 diagnosis in 1856 live births, with Krabbe disease the most common (1 diagnosis/5568 live births), followed by Fabry disease (1 diagnosis/6264 live births), and ASMD (1 diagnosis/10 022 live births). Biochemical, molecular, and clinical analysis showed that early-onset clinical forms accounted for 3 newborns with positive results (11.1%), while later-onset forms represented nearly 90% of diagnoses (24 newborns [88.9%]). Conclusions and Relevance: In this study, the combined birth prevalence of the 6 LSDs in Shanghai was remarkably high. MS/MS-based newborn screening, combined with biochemical and molecular genetic analysis, successfully identified and characterized newborns who were screen-positive, which may assist with parental counseling and management decisions.
- Subjects
CHINA; NEWBORN screening; PARENTS; BLOOD chemical analysis; RESEARCH funding; SYMPTOMS; DISEASE prevalence; BIOCHEMISTRY; MEDICAL genetics; HOSPITALS; GENETIC counseling; DESCRIPTIVE statistics; LONGITUDINAL method; MASS spectrometry; SPECTRUM analysis; GESTATIONAL age; GENE expression profiling; BIRTH weight; BIOLOGICAL assay; DATA analysis software; LYSOSOMAL storage diseases; CHILDBIRTH; MOLECULAR diagnosis; MOLECULAR pathology; BIOMARKERS; GENETIC testing
- Publication
JAMA Network Open, 2024, Vol 7, Issue 5, pe2410754
- ISSN
2574-3805
- Publication type
Article
- DOI
10.1001/jamanetworkopen.2024.10754