For Babies, Protection Up Front

Va. Expands Testing of Newborns to Catch More Disorders

By Leef Smith
Washington Post Staff Writer
Sunday, March 12, 2006; Page LZ03

Children born in Virginia have a better chance of avoiding the effects of more than a dozen mostly inherited disorders thanks to a recently expanded newborn screening procedure put in place this month by the state Department of Health.

Under legislation passed last year by Virginia's General Assembly, health officials have been able to broaden the scope of the state's Newborn Screening Services program, more than doubling the number of genetic disorders tested for.


Nurse Kathy Kulinski talks with new mother Brandie Stover O'Connell before drawing blood from the heel of O'Connell's baby, Noah, at Inova Loudoun Hospital. O'Connell is also an employee at the hospital.
Nurse Kathy Kulinski talks with new mother Brandie Stover O'Connell before drawing blood from the heel of O'Connell's baby, Noah, at Inova Loudoun Hospital. O'Connell is also an employee at the hospital. (Photos By Tracy A. Woodward -- The Washington Post)

"Some of the disorders are life-threatening, while others may slow down physical development or cause mental retardation," state Health Commissioner Robert B. Stroube said. "That is why it is important to identify babies with these disorders as early as possible."

Starting this month, the state has increased the number of disorders on the screening list from 11 to 28. Screenings originally included disorders such as sickle cell anemia, phenylketonuria (PKU) and hypothyroidism. The expanded test also includes cystic fibrosis and isovaleric acidemia, a metabolic problem that prevents the proper breakdown of proteins and can lead to mental retardation.

In 2004, the screening program led to the diagnosis of genetic disorders in 129 children. According to Sharon Williams, manager of the Department of Health's genetics program, all of the conditions are inherited except for hypothyroidism, which in some cases results from a chemical imbalance in the child.

Although none of the disorders is curable, officials said serious effects can be prevented or reduced if newborns receive treatment as soon as possible. Most of the disorders are metabolic, and sometimes special diets are necessary.

"The whole point is to get the child treated before any consequences of the disorder occur," Williams said. "Part of the criteria [for the screening] is that you really can do something about it."

Officials said it was not until 2004 that Virginia acquired the technology to screen for the additional 17 disorders. The tests, which are required by law, are administered within days of birth. The new raft of testing costs more than the $32 charged to screen for the 11 original disorders. The fee, now $53, is included with labor and delivery charges.

Parents can refuse the testing on religious grounds, officials said.

Tests are conducted by placing a few drops of blood from a baby's heel on special blotter paper that is then sent to the state's Division of Consolidated Laboratory Services to be examined.

Nurses with the Virginia Department of Health conduct follow-up tests on infants whose original results are abnormal. Follow-ups continue until a child has a normal result, is found to have a disorder or reaches 6 months of age, when screening methods are no longer reliable.

Parents are notified of results if there is a possibility of a problem.

For more information, visit http://www.vahealth.org/genetics .


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