Newborn screening is a public health service that can help identify serious and rare health conditions in newborn babies. Screening is essential for the early detection and management of several congenital disorders, which is left untreated, may lead to cognitive impairment and/or death. Every September, there is a global effort to raise awareness of how newborn screening can improve long-term health and survival.
In the 1960s, scientist Robert Guthrie, MD, Ph.D., developed a blood test that could successfully detect whether newborns had the metabolic disorder phenylketonuria (PKU). Over time, scientists began developing more tests to screen newborns for a range of severe conditions.
Testing newborns for a group of health disorders that aren’t otherwise found at birth involves a simple blood test. A sample of the baby’s blood is drawn from a heel-prick, and the blood sample is collected in a small vial or on a special paper. The Baby’s heel may have some redness or minor bruising at the pricked site, but this usually lasts for only a few days.
The blood is then sent for testing, where doctors check for rare genetic, metabolic, or hormone-related conditions that can cause serious health problems. The screening tests check for over 60 disorders including sickle cell disease, phenylketonuria (PKU), congenital hypothyroidism, and hearing loss.
Early detection, diagnosis, and intervention prevent death or disability in millions of babies every year. Raising awareness of the importance of newborn screening among new and expecting parents, healthcare professionals, and the public allows for early intervention and treatment, even before symptoms manifest. Newborn screening for health conditions improves a child’s long-term health and enables them to reach their full potential.
Newborn screening improves the long-term health and survival of children. Our Preventing Child Mortality course also supports healthy development throughout childhood and can improve public health outcomes by addressing child mortality. Health professionals working with vulnerable populations can improve their understanding of the causes and major interventions that can reduce the burden of childhood illness.
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