For any mom-to-be who's well-read on what happens in the hospital after her baby is born, the newborn heel stick seems pretty routine: within days of an infant being born, a few drops of blood are taken from the baby's heel to test for a handful of hereditary diseases that require immediate treatment or can benefit from early detection and intervention.
But according to a The Wall Street Journal report, some states have significantly expanded the number of diseases and conditions they now test for, including some controversial screenings for conditions that have no definitive treatment or it isn't clear whether immediate intervention is necessary. (For example, though newborn testing will begin in Illinois in 2012 for Pompe disease, a muscle-weakening disorder, health officials admit they are still uncertain whether all infants diagnosed with the disease need immediate treatment.) As the March of Dimes points out, broader screening tests can present an emotional dilemma for parents who may want to know if anything is wrong with their baby but in many cases, there is no therapy to pursue once screening turns up a health issues.
"The question is no longer whether we can test for them, but what we want to know," Alan Fleischman, medical director of the March of Dimes Foundation, tells The Wall Street Journal.
Is knowledge always power? Supporters of broader screening programs say early detection can improve a child's life and might speed the development of treatments for rare diseases. As The Wall Street Journal notes, often there are few specialists knowledgable about rare disorders, and newborn screening can save families years of anguish searching for a diagnosis. Some parents also say the information is important to know for family-planning purposes.
To test or not to test? Each year, newborn heel sticks identify at least 3,400 babies with some kind of disorder, according to the Centers for Disease Control and Prevention (via The Wall Street Journal). For decades, heel stick screenings generally focused on well-understood hereditary diseases with well-understood treatments. For example, the genetic disease phenylketonuria, or PKU, if left undetected, may cause a protein to build up in the body and lead to organ damage. But once identified in a newborn, a special low-protein diet can be introduced and risk for any future health problems reduced.
Heel stick screenings vary from state to state. Contact your local or state health department for a complete list of conditions and diseases that are part of routine newborn testing in your area.