Abstract
The International Society for Neonatal Screening (ISNS) recognises six different geographical regions [...]
Highlights
The International Society for Neonatal Screening (ISNS) recognises six different geographical regions
When a condition is considered for the Recommended Uniform Screening Panel (RUSP), very large pilot studies are recommended, the Newborn Screening Translational Research Network was established to assist with these studies and facilitate the development and assessment of new methods and technologies to improve early identification through newborn screening and other tasks for implementation
The challenges for developing programs range from starting the program, strengthening the infrastructure, increasing conditions in the panel, introducing expanded newborn screening, laboratory QA issues, follow up and management of patients diagnosed by the program
Summary
The International Society for Neonatal Screening (ISNS) recognises six different geographical regions. Hemoglobinopathy newborn screening (NBS) has existed since the 1970s, primarily for detection of sickle cell diseases (SCD) in the U.S and the thalassemias in other regions of the world, including Asia. Nationwide newborn screening (NBS) for metabolic diseases including phenylketonuria (PKU) was initiated in Japan since 1977, 39 years ago. The Provincial Neonatal Urine Screening Program for inherited metabolic disorders was instigated more than four decades ago in the Province of Quebec and the Nunavut region It is supported financially by the Quebec Ministry of Health and Social Services. As compared to the current world-widely used NeoBaseTM Non-derivatized MSMS Kit (NB), NB2 allows shorter plate preparation and total assay times, and provides further expanded screening panel with additional novel markers including glutamine, glutamic acid, argininosuccinic acid, five new longer chain acylcarnitines, four lysophospholipids and two purine nucleosides adenosine and deoxyadenosine. The effectiveness of the newborn screening system depends on proper, timely collection of samples and timely diagnosis and appropriate management of cases
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