By Peggy O'Farrell
When Christine Purich left the hospital with her baby daughter Grace, she didn't know why the nurse handed her a card with an appointment for the newborn to get a blood test.
Then test results showed that Grace had phenylketonuria (PKU), a genetic disorder in which the body can't metabolize a certain protein. Without intervention, the protein builds up in the body, causing brain damage and mental retardation.
Purich's story has a happy ending: Grace is a healthy 21/2-year-old who loves fruit and vegetables and demands her special macaroni and cheese - a low-protein formula that fits into the restricted diet she'll have to follow for the rest of her life.
Nevertheless, when Grace was diagnosed, Purich remembers being confused after reading the list of disorders for which Ohio requires babies be screened.
"There were all these things that had really strange names that I'd never heard of. I think there're a lot of moms who don't know" about all the testing.
She's right. A new study from Cincinnati Children's Hospital Medical Center shows that parents know little about newborn screenings, even as Ohio, Indiana and many other states are expanding their screening programs and experts debate how much more extensive screenings should get.
Parents know `almost nothing'
Cincinnati Children's teamed with the University of Cincinnati and the Ohio Department of Health for the statewide survey on parents' knowledge of and experiences with the state's newborn screening program.
"Parents knew `almost nothing' about newborn screening," says Dr. Nancy Leslie, a clinical geneticist and head of metabolic services at Cincinnati Children's. She also chairs Ohio's newborn screening advisory committee. "Even educated parents rarely knew exactly what their baby was screened for, and they only think about it if something comes back abnormal."
The survey compared responses from parents whose children received false positive test results against those whose children's results were accurate.
"In both groups," Leslie says, "people thought things like leukemia were on the (screening) board, and it's not."
The diseases that are screened for, such as PKU, are mostly genetic or chromosomal, metabolic and endocrinological diseases that leave babies prone to blindness, severe mental and physical disability and even death.
The Ohio survey showed that even though parents knew little about newborn screening, they favor expanding the state program to include more disorders, Leslie says.
No one argues that babies should be screened for diseases such as PKU, galactosemia (both disorders, untreated, can result in mental retardation)and sickle cell disease. All are on the list of diseases Tristate laws mandate newborns be tested for.
The debate is over how many more disorders should be added to state laws, and whether national standards should be set to make newborn screening uniform across the nation.
In Ohio, babies are screened for 12 disorders, and that list could grow soon. Parents can opt to have the state screen their newborns for an additional 16 diseases. The state's screening advisory committee has proposed adding congenital adrenal hyperplasia (a potentially fatal inability to produce cortisol and other hormones crucial to regulating stress and the body's response to injury) to the "mandatory" list. The committee is also considering adding biotinidase deficiency - the inability to process the vitamin biotin, which can result in seizures and loss of hearing and vision - to its list.
Indiana law mandates that babies be screened for 25 disorders. Indiana already screens for congenital adrenal hyperplasia and biotinidase deficiency.
Kentucky state law stipulates that babies be screened for four disorders. Gwenda Bond, a spokeswoman for the Kentucky Cabinet for Health Services, says the state doesn't have plans to expand its newborn screening program, and any expansion would be limited by the state's poor economic conditions.
Indiana and Ohio recently expanded newborn screening programs. In 2001, Indiana added 17 amino acid, organic acid and fatty acid oxidation disorders to the list of diseases for which babies are screened.
In 2001, Ohio added two disorders to its "mandatory" list, and another five disorders were added in January 2002. In July, the state added the voluntary list of 16 disorders, says Dr. William Becker, medical director of the Ohio Department of Health Laboratory in Columbus.
"Over 95 percent of parents are electing to participate in the voluntary screenings," Becker says. "We're screening a high percentage of Ohio's babies."
Better diagnostic tools
Improved technology is driving much of the increase in newborn screening, Becker and other experts say. Indiana, Ohio and other states have added to their labs tandem mass spectrometry, a high-tech analysis in which different molecules and chemicals in the blood are sorted and weighed in order to detect diseases.
Tandem mass spectrometry means scientists can screen for dozens of disorders with a single test, instead of requiring multiple tests, which means more time and money. Other advances mean doctors recognize many disorders that were unknown decades ago. The technology also means that many states can expand their screening programs to include disorders that aren't easily detected by other means.
Kentucky's state lab does not have tandem mass spectrometry capabilities.
Saving Babies Through Screening, a nonprofit parent advocates' group based in Pennsylvania, promotes a list of more than 50 disorders that can be detected through newborn screening, either by mass spectrometry or other methods. Every state should screen all babies for all of those disorders, the organization says.
At the federal level, the Health Services and Resources Administration and the American College of Medical Genetics are exploring the possibility of establishing national standards for newborn screening, making screenings uniform from state to state. Talks are in the early stages, and committees are reviewing what diseases should be included and what technologies should be used for screenings.
Becker is one of the experts involved in the discussions. Deciding what disorders should be screened is no easy task, he says.
"The rarity of the disorder has to be considered; the availability of treatment, if it exists; our understanding of the biology of the disorder," Becker says. "We have to know the answer to: Can we have an impact if we treat it or not? And, unfortunately, in this day and age, you have to talk about costs to society and the individual, either by testing or not testing."
In Ohio, the fee for newborn screening is $33.75, and the program is "self-supported," Becker says. The fees also help fund the special nutritional supplement that people with PKU have to take.
Other costs have to be considered, he says. In many cases, the cost of screening for a disorder such as PKU is a fraction of the cost of the treatment. Since 1965, the state has screened more than 6 million babies for PKU, and identified about 400 individuals with the disease - individuals who are productive, healthy adults.
PKU is "the success story" of newborn screenings, Leslie says.
"This all started with PKU, and PKU has a very clear-cut screening benefit: You can't look at a baby who has PKU and know what's going on," Leslie says. "By the time it's visible, it's too late to prevent mental retardation."
And PKU has a clear-cut treatment: Children and adults with the disorder must follow a very low-protein diet, which translates to eating mostly fruits and vegetables and specially formulated pastas, cheeses and other prepared foods.
Organizers of Saving Babies Through Screening say it doesn't matter whether a disorder is treatable; parents should have the option to know their baby has a particular illness.
Wendy Nawn, a volunteer and spokeswoman for the organization, says the information goes a long way toward comforting parents who've lost infants and helps them decide whether to have more children, since many of the disorders have a genetic base.
Nawn's 4-year-old son, Alex, was identified at birth with medium chain acyl CoA dehydrogenase deficiency, or MCADD. People with the disease lack an enzyme that is responsible for breaking down certain fatty acids, and that lack leaves them vulnerable to hypoglycemia, or dangerously low blood sugar levels. Undiagnosed, the disease can be fatal, and about a third of babies born with MCADD die. The treatment is simple: People can't go long periods without eating.
Pennsylvania, the Nawns' home state, screens for MCADD. The disease is included in the new testing parameters for Ohio and Indiana. Kentucky does not screen for it. While MCADD can be detected at birth through screening, symptoms might not begin until the child is 2 or 3 years old.
For her part, Purich says parents need more education if a nationalized screening standard is going to be established. But she's all for broadening the scope of newborn screenings.
"It's just a little blood stick 24 hours after the baby is born. How easy could it be?"
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