Inconsistencies Abound In Newborn Screening http://www.discoveryhealth.com/DH/ihtIH/WSDSC000/3460/25231.html By Kathleen Payne Barbara Mellert was living in Louisiana in 1992 when she gave birth to Tom. In 1994, while living in New Hampshire, she had another son, Sam. Mellert says both boys were "fat, happy babies," with no obvious signs of health problems. Eventually, however, Tom was found to be severely hard of hearing, and Sam to be profoundly deaf. Tom was nearly 3-1/2 years old by the time he received his first hearing aids, and by then his language skills lagged significantly behind those of other children his age. Louisiana and New Hampshire now require hearing tests for all children delivered within their borders, but they did not when the Mellert brothers were born. Twenty-four states still do not. Testing for other genetic conditions is similarly variable across the country, and the federal government believes it’s time to do something about it. A national task force convened by the American Academy of Pediatrics and the Health Resources and Services Administration recently released a report calling for a complete overhaul of the newborn-screening system. The report, published as a supplement to the August 2000 issue of Pediatrics (AAP's scientific journal), recommends the adoption of uniform standards for testing, follow-up, diagnosis and treatment of certain disorders. In the Mellerts’ case, earlier intervention might have meant more normal development for the boys. When other genetic conditions go undetected, the consequences can be more devastating. For example, biotinidase deficiency prevents effective use of a crucial B vitamin and can cause mental retardation if the deficiency is not caught and treated soon after birth. Twenty-nine states do not test for the disorder. Congenital adrenal hyperplasia results in defective production of hormones and, undiscovered, can lead to infant deaths. Thirty-one states do not include it as part of mandatory screening. According to Edward McCabe, M.D., Ph.D., co-chair of the task force and physician-in-chief at UCLA's Mattel Children's Hospital, the recent focus on newborn screening is part of an increasing public awareness of inequities in quality of health care. "As a society, we are much more attuned to health disparities, and we can do something about them," says Dr. McCabe. Those disparities don't stop with the number of tests performed. Dr. McCabe believes there also is a difference in the quality of testing techniques. "Some states are using technologies that were developed in the early 1950s, while others are using state-of-the-art technologies," notes Dr. McCabe. For example, Alaska uses a bacterial inhibition assay, which detects bacterial growth zones in a testing medium, to test for PKU (phenylketonuria, an inability to break down an essential amino acid). Bacterial inhibition assay is the oldest PKU testing method. New Hampshire, conversely, uses the newest technology, tandem mass spectrometry (which analyzes amino acids) to test for PKU. However, according to Brad Therrell, Ph.D., director of the National Newborn Screening and Genetics Resource Center, an old technology is not necessarily inaccurate, and the advantage of tandem mass spectrometry lies more in its ability to detect more than one condition at a time, rather than in its accuracy. Though some conditions for which tests are available are relatively rare, Dr. McCabe believes testing is worthwhile. "There are lots of issues with children that need to be dealt with, but this is one area where we have proven success. These disorders tend to be very treatable," he states. For example, complications of biotinidase deficiency, which occurs in one of every 70,000 babies, can be prevented simply by giving affected infants extra biotin. The March of Dimes, though pleased with the timeliness of the task force’s work, thinks the report needed more specific conclusions and recommendations. "It was sort of an unfinished symphony," says Michael Katz, M.D., vice president for research with the March of Dimes. The organization maintains that tests for any condition in which early discovery can make a significant difference in a child’s health should be mandatory. It also recommends that states be required to use the best available testing methods. According to Dr. Katz, giving every child an equal opportunity for a healthy start to life is a moral obligation, regardless of economic cost. Still, expense cannot be ignored when considering additional testing. However, newborn screening that uses blood samples tends to be inexpensive, and tandem mass spectrometry allows one sample to be used to test for at least 20 diseases, with a total cost of around $25. Also, according to Dr. McCabe, states already collect money for newborn screening, but that money often goes back into a general fund. "I like to say it's used for fixing potholes, not screening babies," he says. Additional tests may result in more diagnoses, but the task force recommends going further. A protocol for follow-up and treatment will help physicians and parents know what to do when a test result comes back positive. Mellert says the way health care professionals deal with parents after a diagnosis is crucial. "I've heard horror stories about people having a note tagged to the crib that the child didn't pass their hearing test," she says. Mellert adds that she and her husband had to scrounge for resources and would like to see other parents spared that process, especially during the already hectic and emotional time surrounding a birth. The next step is formation and implementation of policy. According to Dr. McCabe, a broad-based group, including physicians, legislators, third-party payers and parents, must come together to agree on specifics. One important issue will be identifying a core group of tests to be made mandatory in every state. The task force has not specified which diseases should be included, and Dr. McCabe says, "Everyone's list will be different." The March of Dimes has created its own list. As for what expectant parents can do now, Dr. McCabe suggests consulting the task force’s report. It shows which conditions each state includes in minimum testing. All states currently test for PKU and congenital hypothyroidism (a hormone deficiency). You can purchase additional testing for your child through a supplemental screening program. Mellert suggests visiting the hospital where you're delivering to inquire about what tests will be performed, what those tests will involve and what will happen if something is found. You may also want to take up the issue of newborn screening with your state legislators. __________________________________________________ Do You Yahoo!? Yahoo! Calendar - Get organized for the holidays! http://calendar.yahoo.com/ >>>> 2.5 Mbps InternetShop >> InternetZone << Margonda Raya 340 <<<< >> Kirim bunga ke-20 kota di Indonesia? Klik, http://www.indokado.com >> Info balita, http://www.balita-anda.indoglobal.com Etika berinternet, email ke: [EMAIL PROTECTED] Stop berlangganan, e-mail ke: [EMAIL PROTECTED]
