I recently attended an exciting workshop on newborn screening. The presenters discussed the benefits and obstacles of implementing newborn screening in South Africa.
Newborn screening is a public health program that aims to identify certain rare genetic, metabolic, and hormonal conditions in newborns, usually within the first 48-72 hours of life. The screening involves a simple blood test by pricking the baby's heel and collecting a small amount of blood on a special filter paper.
The blood sample is then sent to a laboratory for testing, where it is analysed for the presence of specific markers to look for certain disorders. The disorders that are screened for vary depending on the country and state but typically include conditions such as phenylketonuria (PKU), sickle cell disease, congenital hypothyroidism, and cystic fibrosis.
If the screening test results are abnormal, the baby may be referred for further testing and evaluation to confirm the diagnosis and begin treatment as soon as possible. Early detection and treatment of these conditions can prevent serious health problems, developmental delays, and even death.
Newborn screening is a routine part of the standard of care for newborns in most countries, and it is generally considered safe and effective. There can be false negatives and false positives. Parents should always talk to their healthcare provider about any concerns they have about the testing process or the results to find out more.
In South Africa, there is limited access to newborn screening (through the private sector), but this will hopefully change over the next few years with engagement between advocates, doctors, genetic counsellors and policymakers.
If you would like more information: https://kidshealth.org/en/parents/newborn-screening-tests.html
#genetics #medicalgenetics #newborn #newbornscreening #healthcare #equity #accessforall #geneticcounseling #biology #DNA #advocate
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