The classic fairytale Sleeping Beauty begins with a pinprick. So does our story. Only our version is no fable. A simple heel prick blood test of newborns can help prevent a lifetime of disability, despair, or even death.
Dr. Robert Guthrie invented the first neonatal heel prick test in 1961 for phenylketonuria (PKU). Untreated PKU can lead to intellectual disability, seizures, and other serious medical problems. Today, the Guthrie test remains pretty much the same. Newborns receive a quick pinprick of their heel and their blood spots are screened with a panel of tests. Babies might cry for a moment, and then all is well in their world. Hopefully. Labs can now screen the blood-spot samples for more than 50 developmental, genetic, and metabolic disorders. If discovered early enough, many of those diseases are treatable and even curable.
Protecting the world’s newborns from such diseases is a real “happy-ever-after” story. Only it remains more make-believe than reality. Most of the world’s 131 million babies born each a year are not screened for a variety of reasons. Cost, cultural differences, training, and logistics are just a few of the obstacles to universal testing. Still, we keep fighting the good fight, not only as scientists but as advocates dedicated to improving and saving children’s lives around the world through early detection and intervention.
As a world leader in newborn screening products, training, and testing services PerkinElmer believes comprehensive screening can help protect the world's newborns resulting in fewer complications, disabilities, and deaths.
Since 1994, we have screened some 450 million babies worldwide for a variety of life-threatening and debilitating diseases and disorders, such as congenital hypothyroidism and phenylketonuria (PKU). And through our global presence, we continue to partner with governments and non-profits in piloting and operating screening and testing centers that are focused on prenatal, neonatal, and family health.
In China, more than six million babies a year benefit from PerkinElmer’s screening kits. We are also helping to train 3,000 doctors, clinicians, and laboratory technicians across 600 rural counties on the early detection of life-threatening disorders.
In Egypt, we helped to build one of the largest, state-of-the-art neonatal screening laboratories in the world to test some 2.6 million newborns each year.
In the Philippines, we helped set up six testing centers and follow-up sites that offer families the ability to have their newborns screened for a number of additional conditions, including thalassemia. We are also working with Indonesian health officials to expand their newborn screening services to cover more disorders at more hospitals across the country.
In the U.S., we not only work with various state neonatal screening labs, we also operate one of the most advanced neonatal screening laboratories in the world offering early detection of metabolic and other inherited disorders that saves that saves thousands of lives each year.
We are PerkinElmer, a global leader in life and environmental health science. Around the world and around the clock, our 7,700 professionals are helping families to lead longer, healthier lives... one heel prick at a time.