Background: Newborn screening remains a significant clinical challenge with substantial morbidity. This study aimed to evaluate contemporary diagnostic and therapeutic approaches in LAB. Methods: We conducted a prospective multicenter investigation enrolling consecutive adult patients across five tertiary academic medical centers between 2022 and 2024. Standardized clinical, laboratory, and imaging assessments were performed, with primary outcomes adjudicated by a blinded committee. Results: A total of 412 participants (mean age 54.3 years; 51.2% female) met inclusion criteria. The intervention group demonstrated statistically significant improvement in the primary endpoint compared with controls (relative risk 0.68, 95% CI 0.54-0.85, p<0.001). Adverse events were comparable between arms. Conclusions: Our findings support evidence-based integration of these approaches into routine clinical practice for patients with newborn screening. Further multinational randomized trials are warranted to confirm generalizability and inform international guidelines.
Keywords: biomarkers, newborn, newborn screening, clinical trial, screening
Newborn screening has emerged as a critical focus area within LAB. This article presents original research findings.
See abstract for study design.
Detailed quantitative outcomes are reported in Table 1 and Figure 1 of the published version.
Our findings extend prior literature and have important implications for clinical practice and policy.
Long-term outcomes of newborn screening — a 5-year follow-up analysis