Current Research

Newborn Screening Ontario (NSO) Research supports the mission of NSO by funding and executing studies on the development and improvement of integrated screening, innovating to drive advances in newborn screening and training of the next generation of screening professionals. Being global leaders through research, development, education, and innovation is part of our mission as an organization.

Research at NSO is overseen by CHEO's Research Ethics Board (REB). All studies must obtain REB approval before proceeding. NSO's Storage and Secondary Use of the Newborn Screening Samples policy specifies how stored samples can be used for secondary purposes, such as research.

Are you interested in learning more about current studies or participating in research?

Two studies that will soon be recruiting participants include:

• INFANT Study
• CanScreen T1D Research Consortium

Some recent publications of work led or contributed to by NSO include:

• Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening | Journal of Human Immunity | Rockefeller University Press (January, 2026)
• Improved Performance of Newborn Screening for Congenital Adrenal Hyperplasia Using 21-deoxycortisol Measurement | Journal of the Endocrine Society | Oxford Academic (January, 2026)
• Enhancing TSH-based congenital hypothyroidism screening using machine learning and resampling algorithms | BMC Medical Informatics and Decision Making | Springer Nature Link (December, 2025)
• Validation of Dried Blood Spot Immunoreactive Trypsinogen (DBS-IRT) as a Biomarker of Exocrine Pancreas Function in Children with Pancreas Disease (October, 2025)
• A cost-utility analysis of newborn screening for spinal muscular atrophy in Canada | Orphanet Journal of Rare Diseases (August, 2025)
• Systematic review for economic evaluations on newborn screening for spinal muscular atrophy (May, 2025)
• Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and review of the first 3 years - ScienceDirect (April, 2025)
• High precision newborn screening for mucopolysaccharidosis type I by enzymatic activity followed by endogenous, non-reducing end glycosaminoglycan analysis - ScienceDirect (February, 2025)
• Outcomes of a Population-Based Congenital Cytomegalovirus Screening Program | Neonatology | JAMA Pediatrics | JAMA Network (January, 2025)