Meet Newborn Screening Ontario
Newborn Screening Ontario (NSO) is a program located at the Children’s Hospital of Eastern Ontario (CHEO) providing screening for several serious diseases in newborns to support early diagnosis and intervention.
The NSO program tests for cystic fibrosis (CF), as well as several other serious and life-threatening diseases. CF has an incidence of 1 in 3600 babies born in Canada each year.1 With early detection, babies with CF can be healthier because of further testing and treatment.
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In a poster released at the 2015 NSO Symposium, the NSO team reported certain challenges surrounding the organization’s existing two-tiered workflow, which began with a measurement of immunoreactive trypsinogen (IRT) levels and molecular genotyping for babies with high IRT levels. The organization refers screen positive patients for diagnostic follow-up in three categories:
- Category A: Individuals with 2 CFTR mutations
- Category B: Individuals with one CFTR mutation
- Category C: Individuals with no detectable mutations but very high IRT level (>99.9 percentile)
The genotyping assay NSO previously used only detects common CFTR mutations and can miss deletions and gene arrangements. This means individuals in categories B and C still remain at risk.
In a review of NSO CF screen-positive referrals from April 2008 to April 2013, a correlation arose in categories B and C and predictive value. Although the vast majority of follow-up diagnostic referrals are in category B or C, both groups showed a low CF-positive predictive value.
To address these issues, the NSO evaluated the use of a custom genotyping assay from Agena Bioscience® for CFTR mutation detection. The panel was developed using iPLEX® technology on the MassARRAY System in coordination with NSO to detect relevant targets.
The alleles were selected using data from the 2008-2013 analysis, which identified recurring alleles in the category B and category C screen-positive cases, as well as common mutations (Please refer to the Methods section and Genotyping for further details). Ultimately, the open platform format of MassARRAY allowed NSO to incorporate all the alleles from the existing assay as well as these other recurring alleles.
A custom panel based on iPLEX/MassARRAY technology for CFTR genotyping was developed and validated. This provides a flexible and cost-effective alternative to the current genotyping assay. – From NSO Poster
Ultimately, the panel was concordant with results from previous genotyping screen-positive results and increased the sensitivity of CFTR mutation detection. The custom CF panel provided a flexible and cost-effective alternative to NSO genotyping methods. The MassARRAY System features high throughput and flexible, automated workflow and is compatible with customized assays that NSO uses to save cost and improve accuracy.
See How the MassARRAY System Can Support Newborn Testing in Your Lab
1. Cystic Fibrosis Canada. About CF. https://www.cysticfibrosis.ca/about-cf. Accessed April 13, 2021.
2. Yeh E, et al. A quality improvement initiative to investigate the utility of an open platform assay and Next Generation Sequencing for molecular genotyping in Cystic Fibrosis (CF) screening by Newborn Screening Ontario (NSO). Poster Presented at: NSO Symposium; 2015.