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September 30, 2011 > Newborn Screening Tests Save Lives, Facilitate Treatment

Newborn Screening Tests Save Lives, Facilitate Treatment

Pediatrician Talks About Screenings Done Before Infants Leave the Hospital

A lot happens before a newborn baby leaves the hospital, but perhaps most important is the tiny "heel stick" to draw a tiny amount of blood. This small sample is then sent to state laboratories to test for a wide range of disorders.

Each September Newborn Screening Awareness Month helps encourage pregnant families, families with a newborn and practitioners to learn more about this screening that can save lives.

"Newborn screening is one of the first and largest of the population-based screening programs we have in the United States," explains Courtney LaCaze-Adams, M.D., a Washington Township Medical Foundation pediatrician. "Millions of infants are screened every year for diseases that would otherwise cause significant morbidity and mortality, and because of these screenings we see between 3,000 to 5,000 diseases that wouldn't be picked up until much later."

A good example of diseases that are now routinely tested for, she says, are thyroid disorders. The thyroid gland makes thyroid hormones that are necessary for normal brain growth and development. Notably, according to Dr. Lacaze-Adams, the most critical period for the effect of thyroid hormone on brain development is in the first few months of life.

"In the case of congenital hypothyroidism, there is virtually a 100 percent chance of the infant developing mental retardation if the disease is not detected and treatment is not started early enough," she says. "Prior to newborn screening, it was one of the most prevalent causes of mental retardation. Now, due to newborn screening, it is the most preventable cause of mental retardation in the developed world. This is one example of why she calls newborn screening "a pretty amazing program."

"What happens is when a baby is greater than a day old, he or she will get a little stick on the heel to take some blood, which is sent to the state where they run the tests," she explains. "If the results are abnormal, primary care physicians get the results back within a week. This means we can start treatment right away for these infants."

"If we get a positive diagnosis of congenital hypothyroidism, we will repeat the test, but we also will begin treatment right then with thyroid medication. In these cases, morbidity improves dramatically, which means these infants usually go on to develop normal intelligence and grow and develop normally in all respects. Newborn screening for this disease has completely has changed these families and infants' lives."

Dr. LaCaze-Adams is passionate about informing parents about newborn screenings and says the history of newborn screening really underscores the importance of these tests.

"Newborn screening was started by a gentleman whose child was mentally impaired," she relates. "He was a scientist and did a lot of research looking into what causes mental retardation and he found out that his daughter had a defect in her ability to properly break down an amino acid called phenylalanine. The disease, now called Phenylketonuria (PKU), causes mental retardation by an abnormal buildup of amino acids that damages the developing brain.

"Due to his research, the PKU test was added to the newborn screen in the 1960s, and now, when we give these infants a proper diet - low in phenylalanine - they do not develop mental retardation."

Since this advancement, according to Dr. LaCaze-Adams, the number of disorders - many of which can be treated or reversed - currently screened for has grown exponentially.

An example of one of the diseases now screened for is cystic fibrosis (CF). According to the Cystic Fibrosis Foundation, approximately 30,000 children and adults in the United States have cystic fibrosis and an additional 10 million more - or about one in every 31 Americans - are carriers of the defective CF gene, but do not have the disease.

"Cystic fibrosis, which is a common genetic disease detected through newborn screening, wasn't being diagnosed until early childhood just five years ago," she says. "Now diagnosis is within a one-month timeline since the addition of CF on the newborn screen in 2007."

Dr. LaCaze-Adams cautions that there are instances of false positive results that must be re-tested and she understands that the process is frightening for parents. However, she says the benefits far outweigh the fear and uncertainty.

"You have to think of all the thousands of infants that we're screening, and all those that have real illnesses whose lives we're now able to improve," she says. "Say a disease doesn't have a specific cure, like cystic fibrosis. Even in these cases, there are important treatments and therapies that can help the child's symptoms and progression of disease. There's so much we can offer patients and their families in terms of treatment centers, support groups, and early intervention services."

Dr. LaCaze-Adams encourages families to learn more about newborn screening and the positive impact it has - and will continue to have - on families. She also points out that each state has different list of diseases that it screens for and that California has some of the broadest screenings categories.

For more information, visit the California Department of Public Health's Web site, and search for Newborn Screening Program.

To search for Washington Township Medical Foundation pediatricians by name, visit and click on "Find My Physician."

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