October 14, 2022
Parents of newborns are always keen to ensure that they are able to give their infant the best possible life. This includes ensuring their child is as healthy as possible, which is why generations of babies around the world are given a ‘heel prick test’ (sometimes called a Guthrie test) shortly after birth. This simple test (which has been utilized in BC since 1964) is a quick and effective way to screen babies for rare and serious disorders, such as metabolic, endocrine and blood disorders, as well as cystic fibrosis.
Having this information in the first days of a baby’s life allows their parent(s) to make important medical decisions to help treat these genetic conditions. Thanks to Newborn Screening BC (NSBC) there will now be three additional conditions added to the screening regimen for babies born in the province. These new tests will screen for three inherited conditions; severe combined immunodeficiency (SCID), spinal muscular atrophy (SMA) and biotinidase deficiency.
Detecting these conditions right after birth will improve the health outcomes of newborns and allow for early treatment and less invasive diagnostic investigations than were required prior to this change to the screening standards. Initially the Guthrie test was used in BC to look for one specific metabolic condition, phenylketonuria (PKU), but over the years more elements have been added to this effective test as advances have been made in genomics and medicine. With the addition of these new screening tests, one of the 27 disorders will be detected in roughly 60 babies each year. This early intervention has the potential to significantly improve their health outcomes.
Source: BC Government News
Read more: https://news.gov.bc.ca/releases/2022HLTH0197-001536
