WASHINGTON, June 14 (UPI) -- A Senate subcommittee Friday urged that the types of birth defect screenings required for newborn babies be standardized because too often a child's life depends on whether the state in which he or she lives conducts the necessary tests.
Medical technology has made it possible for newborns to be screened for at least 30 different types of genetic and metabolic disorders, many of which can prove fatal during the first few days of life, explained Sen. Chris Dodd, D-Conn., who hosted the hearing. Yet the number of screening tests an infant undergoes during the hospital stay varies greatly from state to state. Dodd, a first-time father of a 9-month-old girl, said this issue became of great concern to him when he wondered, after his daughter was born in the state of Virginia, whether she had received all the screening tests available. Virginia only tests for eight disorders.
"Only two states, including my home state of Connecticut, thanks to recent legislation, will test for all 30 disorders," Dodd said. "The vast majority (of states) test for eight or fewer."
Dodd referred to a map of the United States, color-coded to illustrate which states provide more screenings. Connecticut, Kentucky, Wisconsin, and Massachusetts were the only four states that routinely screen for at least 20 genetic and metabolic diseases. The Midwest and Western states offer the fewest screenings. Increasing the number of screenings could save 1,000 lives each year, Dodd said.
One of the diseases recommended for screenings is called Medium-Chain ACYL-COA Dehydrogenase Deficiency, which affects approximately one in 15,000 newborns. MCADD is a genetic disorder in which the body becomes incapable of converting fat to energy because of a missing enzyme. Another targeted disease is Phenylketonuria or PKU. It strikes about one in 12,000 babies and is caused by the inability to metabolize an amino acid called phenylalanine, which then accumulates and damages the brain. Maple Syrup Urine Disease is a rare metabolic disorder occurring in about one in 250,000 infants that cause neurological harm and irreversible mental retardation. If caught early enough, MSUD can be contained by special diet.
Jill Woods, a mother from Alexandria, Va. who lost her daughter, Hayley, three days after she was born, urged the subcommittee to require states to include all the screenings recommended by the March of Dimes. Woods said tests conducted during the autopsy, which she and her husband paid for out of their own pockets, showed Hayley died from an undiagnosed metabolic disorder called CPT-II. In August 2001, the Woods' gave birth to a healthy daughter named Grace, but again, used their own finances to ensure their daughter received the full range of newborn screening tests.
"We do not want any family to go through a loss like ours," Woods said. "Families need answers in order to make decisions about future pregnancies."
One of the problems is that families who suddenly lose an infant often mistake the loss being caused by sudden infant death syndrome, or SIDS. Parents may also not realize they are carriers for such genetic and metabolic disorders that can be passed down to their children.
Dr. Jeffrey Botkin, who testified on behalf of the American Academy of Pediatrics, said national standards for newborn screenings are sorely needed. States need to be given clear directions on which tests should be used and which ones should be discarded or replaced with more effective methods, he said.
"This inconsistency among the states may lead to negative health effects for children due to the potential use of tests of limited efficacy and the failure to use beneficial tests in others," Botkin said.
The March of Dimes, which attended Friday's hearing but did not testify, is urging Congress to strengthen newborn screening programs by setting aside $25 million for such an effort at the Office of Health Resources and Services Administration, as authorized under Title XXVI of the Children's Health Act of 2000. This program was designed to support states in their efforts to expand newborn screenings, which can make a difference between life and disability and life and death, experts said.
