EXPANDING NEWBORN SCREENING
Children's Health Channel; August 1, 2005
NASHVILLE (Ivanhoe Broadcast News) -- Every state tests newborns for certain disorders, but just how comprehensive those tests are depends on where you live. Some screen for as few as four disorders, but other states test for more than 60. That early detection can mean the difference between life and death for a tiny baby.
Joseph Steuwe looks like a healthy 4-month old. Even at birth, he was the picture of health, but Joseph has a rare metabolic disorder called VLCAD. Only a blood test can detect it.
"He might not have been here very long if we hadn't detected it," says Joseph's mother, Lindsey.
All 50 states perform basic screening for congenital problems using blood from a heel stick. But only 18 states require all or most of the tests for 29 treatable disorders, as recommended by the American Academy of Pediatrics. Doctors at Vanderbilt Children's Hospital in Nashville check for more than 60 disorders, most of them metabolic.
Laboratory technician Maxine Perlen says, "[VLCAD] is another metabolic disease that is now currently picked up on the expanded newborn screen." Treatment can be as simple as changing a baby's diet. Genetics experts say if Joseph had been born before his state expanded its testing in 2004, he might not have lived.
"We're able to prevent disease and death, preventable disease and death in these babies," Rizwan Hamid, M.D., a pediatric genetics expert at Vanderbilt, tells Ivanhoe.
Lindsey says, "If it can save one life, it's something that needs to be done." She believes if all states expanded testing, every child would have the advantage Joseph had.
Doctors think expanded testing could reduce SIDS deaths by 5 percent to 10 percent. If you're expecting, ask your doctor what disorders are routinely tested in your state. Or you can check the National Newborn Screening and Genetics Resource Center Web site at: http://www.genes-r-us.uthscsa.edu
Courtesy of Saving Babies Through Screening Foundation