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Newborn Screening: 50 Years of Saving Lives

Christine and Kevin Brown of Tomahawk, Wisconsin, had never heard of phenylketonuria (PKU) until 2005, when they received a phone call telling them their second son, Connor, had an abnormal newborn screening (NBS) test result. Despite their hopes that it was a mistake, a second test confirmed the results.


Mei Baker (left) and Patrice Held became Newborn Screening Laboratory co-directors in 2013.Like the Browns, about 125 Wisconsin families each year learn through newborn screening that their babies have a rare, life-altering and potentially life-threatening disorder.


Left untreated, PKU and other conditions detected through NBS can lead to severe illness, developmental delays, brain damage and sometimes death.


Fortunately, early diagnosis and treatment can mean all the difference. This has allowed Connor to thrive and live as normal a life as possible on a special diet.


“Newborn screening is a great example of an early-detection, early-intervention public health program,” says Mei Baker, MD, University of Wisconsin School of Medicine and Public Health (SMPH) associate professor of pediatrics and co-director of the Wisconsin State Laboratory of Hygiene (WSLH) Newborn Screening Laboratory.


“If we identify these babies’ disorders soon after birth through newborn screening, they can begin treatment and, hopefully, go on to live healthier lives.”

Newborn screening may be the only way to identify the disorders early, before a baby begins to suffer negative health effects.


“Almost all of these disorders are unrecognizable at birth,” explains Patrice Held, PhD, co-director of the Wisconsin State Laboratory of Hygiene Newborn Screening Laboratory, which is part of UW-Madison. “A lab test is the only way to know, and prenatal testing isn’t feasible.”


Celebrating 50 Years of Newborn Screening


Ronald Laessig, PhD (left), and Harry Waisman, MD, were strong proponents of newborn screening.This year, the laboratory and other health care organizations around the country are celebrating 50 successful years of newborn screening. In 1963, Robert Guthrie, MD, PhD, of New York, developed the first newborn screening test: a method to detect PKU using a few drops of blood from the baby’s heel, collected and dried on a filter paper card. Wisconsin began PKU screening in 1965.


Today, the Newborn Screening Laboratory still receives filter paper cards like those Guthrie used. However, the approximately 70,000 babies born each year in Wisconsin now benefit from screening for 44 disorders.


Between 24 and 48 hours after birth, a health care provider pricks each baby’s heel and collects five drops of blood on the filter paper card, which hospitals and midwives send to the Wisconsin State Laboratory of Hygiene.


The laboratory analyzes the blood spots for commonly known disorders like cystic fibrosis, sickle cell disease and congenital hypothyroidism, as well as disorders so rare that years can go by before chemists find a positive result.


In addition to blood testing at the WSLH, hospitals assess each newborn’s hearing as part of Wisconsin’s comprehensive program. The Wisconsin SHINE (Screening Hearts in Newborns) project also is working with hospitals on a pilot study examining the use of pulse oximetry to screen for critical congenital heart disease.


The mission of the statewide program, administered by the Wisconsin Department of Health Services and the State Lab of Hygiene, is to screen all newborns to identify those at high risk for disorders and ensure they get confirmatory testing and, if necessary, treatment. Depending upon the disorder, treatment may include medication and/or a diet that will need to be followed for the baby’s entire life.


A key part of Wisconsin’s NBS Program is the voluntary engagement of clinical consultants who initially work with the babies’ primary care providers and deliver ongoing medical treatment. Participants throughout the state include:

Nutrition professionals, genetic counselors, audiologists and public health nurses are among those who provide vital support services to families.


Only one of the disorders on the NBS panel - severe combined immunodeficiency (SCID) - can be cured. If a baby with SCID has a bone marrow transplant before the age of 2 months, he or she will have more than a 90 percent chance for long-term survival. Without the transplant, children with SCID rarely live past their second birthdays.


A Nationally Respected Screening Program


Staff of the Wisconsin Newborn Screening Laboratory gathered at the July event to celebrate the 50th anniversary of newborn screening.In January 2008, the Wisconsin NBS Program became the world’s first to begin routinely screening newborns for SCID. Baker and collaborators at the Medical College of Wisconsin in Milwaukee developed and evaluated the test method with funding from the Jeffrey Modell Foundation and the Centers for Disease Control and Prevention. Since then, the NBS Laboratory identified six babies with immune deficiency disorders.


This strong research collaboration is an example of how Wisconsin earned its national reputation as one of the best NBS programs in the U.S.


Another such example includes the work of Philip Farrell, MD, PhD, now a School of Medicine and Public Health dean emeritus and professor of pediatrics and population health sciences. In the 1980s, he worked with Wisconsin State Laboratory of Hygiene scientists to study cystic fibrosis (CF) screening and pilot a test for a two-tier method.


When the test was added to Wisconsin’s newborn screening panel in 1994, it relied upon the first DNA strategy of screening that used procedures developed at UW-Madison through National Institutes of Health-funded research.


Referring to Gary Hoffman, who directed the State Lab of Hygiene's NBS Laboratory from 1991 to 2012, Farrell says, “The Wisconsin IRT-DNA test is now used to screen over 10 million babies around the world for CF, all because Gary and the Wisconsin laboratory were willing to take a quantum leap forward.”


Furthering their research collaborations, Farrell and Baker now have a grant to study how next-generation sequencing technology can be used for CF newborn screening.


As for the Browns, living as a family with PKU became their “new normal.” Two years after Connor’s diagnosis, the Brown’s third son, Kellen, was born with PKU; their oldest son does not have the condition. With all they have learned and experienced, Christine and Kevin know that all of their sons will be able to grow up healthy and dream their dreams.

“Newborn screening saved our children’s lives,” Christine exclaims.


By Jan Klawitter

This article appears in the summer 2013 issue of Quarterly.

Date Published: 09/05/2013

News tag(s):  quarterlyqarchivedfeaturespediatricspublic health

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Newborn Screening: 50 Years of Saving Lives

Last updated: 03/24/2014
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