Did you know that one of the most important public health programs, one that impacts the lives of our newborn babies, is largely unknown to the public at-large? The practice of screening all newborn babies at birth, for metabolic and a variety of other disorders, is something that most parents probably don’t ever think about, nor do they usually receive the test results.
Why do advancements in newborn screening, that affect the health and well-being of our children, seem to be a mystery to so many? If we’ve piqued your interest then tune in to this monthly podcast series produced by Waters Corporation and learn more about the practice of newborn screening as we unravel the science behind it.
Was mass spectrometry the right technique to screen large populations?
No one really knew whether mass spectrometry was up to the task of population screening. Could the instruments cope with the tens-of-thousands of dried blood spots that needed to be analyzed every year? In the mid 1990s, Dr. Mike Morris began working with newborn screening labs around the world to try and answer these questions.
The application of tandem mass spectrometry to NBS for amino acids and acylcarnitines - An interview with David Millington
For the 30 years following Dr. Robert Guthrie's invention of a PKU screening test newborn screening tests were limited in number. That all changed when biochemists at Duke University first applied tandem mass spectrometry to solve a puzzling clinical case. The result changed the way the newborn screening community thought about adding new screening tests.
Let's start from the start: A review of Dr. Robert Guthrie's 1963 paper on PKU screening
It all started with a pediatrician's desire to save newborn babies from a rare but devasting metabolic disorder. But, Dr. Robert Guthrie's elegantly simple screening test for PKU (phenylketonuria) started a movement that has improved or saved the lives of countless newborn babies around the world.
Trailer for the Renata Newborn Screening Podcast
Trailer for the Renata Newborn Screening Podcast.