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I remember when the nurse entered my hospital room and whisked my newborn daughter away for a routine blood test. Exhausted and ecstatic following Kristy’s birth, I didn’t give the test a second thought. She was, after all, the picture of health. A week later, however, that moment became significant in a way I could never have imagined.
My child was one of thousands of U.S. infants born each year with disorders diagnosed during newborn screening. In her case, the diagnosis was congenital hypothyroidism, a disorder in which her body doesn’t produce enough thyroid hormone. She started treatment the next day (as in most of these disorders, quick treatment is crucial) and is now a normal teenager, but if we had lived in a different state back then, this may not have been the case.
Newborn screening technology> Today, up to 50 genetic, metabolic, congenital and infectious disorders can be detected from just one blood sample taken within hours of a baby’s birth. If treatment exists and is administered early, an afflicted baby can be saved from such potentially severe outcomes as mental retardation, physical deformities or even death. But depending on the state where a woman lives, her newborn might be screened for as few as four disorders at birth. Some states have purchased the advanced screening technology (called tandem mass spectrometry, which costs about $300,000 per machine); others have not.
Any pregnant woman can make sure that her baby’s blood sample is tested for a full range of disorders by talking with her OB-GYN and pediatrician before the birth and arranging for a sample to be taken and sent to a private lab (see “Take Charge of Your Baby’s Testing” on pg. 76). Yet many parents and politicians question why expanded screening is not routinely made available for all babies. “It doesn’t make sense that a child can be kept alive in one state and a child in another state with the same disorder dies,” says Wendy Nawn, vice president of Save Babies Through Screening (www.savebabies.org).
Screening: the future> Legislation being introduced in Congress by Democratic Sen. Chris Dodd of Connecticut seeks to resolve the disparities among state screening programs through additional education, training and outreach. The legislation, if enacted, would also provide federal support for follow-up care for children born with detected diseases. “Newborn screening is an available tool in efforts to treat children’s health problems,” Dodd says, “and, as such, we need to ensure that every family and every health provider across America has access to information about this critical resource.”
In a study reported in the February 2003 issue of Pediatrics, researchers make several recommendations for how doctors and state health departments can work together more efficiently when reporting results to parents. “These improvements will ultimately benefit the 4 million infants screened each year and assist states in developing the infrastructure that will be needed as expanded newborn screening is ultimately adopted,” the study says.