50 Years of Newborn Screening!

Before I graduated I had to complete an internship.  I chose to move to Washington DC and intern at Genetic Alliance.  I was able to work with their newborn screening program, Baby’s First Test.  I accepted this internship because I was interested in maternal and child health and I knew I could gain valuable experience here.  This internship was an amazing opportunity for me to learn all I ever wanted to about newborn screening.  I was surprised that I never learned about it in class, so I came in as a true rookie.  I was able to write an article for the APHA Maternal and Child Health Spring 2013 Newsletter on 50 years of newborn screening.  I thought this was a great way to summarize the importance of getting all children screened for genetic conditions.  Here is the article (and a great infographic from BFT)

“This year we celebrate 50 years of newborn screening and in turn, 50 years of healthier babies!  The Centers for Disease Control and Prevention named newborn screening as one of the top ten public health achievements of the last decade, an exciting success.  According to APHL, “newborn screening saves and improves lives of more than 12,000 babies in the US each year.”  Because symptoms of the conditions screened for usually do not show until it is too late, it is important that all babies are screened within 24-48 hours after they are born.

“Newborn screening began in 1963 when Dr. Robert Guthrie discovered that newborns could be screened for phenylketonuria (PKU) with a simple blood sample.  This finding started a bunch of research into what other diseases could be tested for in such a simple way.  Since that breakthrough, scientists have found 60 serious, but treatable, conditions that newborns can be screened for; diseases like cystic fibrosis, sickle cell anemia, and congenital hypothyroidism.  Two new tests have also been added to newborn screening, a hearing test that checks to make sure the brain/ ears are receiving sound; and in some states, pulse oximetry, which checks for critical congenital heart defects.

“In 50 years of newborn screening we have seen huge improvements in infant mortality and quality of life.  In the last ten years specifically, newborn screening has reached even greater heights.  In 2003, 46 states were only screening for six disorders.  The CDC reported in 2011 that all states screened for at least 26 of the 30 conditions recommended by HRSA.  Newborn screening saves thousands of babies’ lives each year, and it is only going up. Research is continuing on more conditions that we can screen for and add to the recommended panel.”

To learn more about newborn screening visit: Baby’s First Test, Association of Public Health Laboratories, or the CDC