New Testing for Newborns

By: Philip Stewart
By: Philip Stewart

March 1, 2006

Starting Wednesday, newborns in Virginia will have a better chance of avoiding the often devastating effects of inherited disorders. These disorders can cause serious harm unless they're discovered and treated soon after birth.

The state will begin scanning for nearly 30 disorders and diseases after a baby is born, but more and more parents are turning to screenings during their pregnancies.

"Even though they may have the opportunity for their baby to be tested right at birth, they want to prepare themselves and to know ahead of time," said Fotini Vavelidis, a genetic counselor at the Prenatal Diagnosis Center in Albemarle County.

She says testing for birth defects has almost become standard practice. Parents can now find out more about their unborn baby's health, sooner.

"Even though they wouldn't do anything differently, they definitely need to have that information so they can pretty much put their ducks in a row," said Vavelidis.

As the state starts to screen for more defects at birth, parents can also rely on testing done as early as the first few months of pregnancy.

"We do the full first trimester screening, which has the highest detection rate of any screening test for chromosome abnormalities," said Vavelidis.

But there have been concerns about early testing. Opponents argue it could cause parents to terminate a pregnancy. Vavelidis disagrees.

"It's not our decision. I mean, we are here to give them the information and we try to be as non-directive as we can possibly be," she said.

While the tests are quite accurate during pregnancy, there are definite advantages to the testing that will now be done after birth.

"With the screening test, the newborn screening, you're directly testing baby's blood," Vavelidis explained. She says being able to directly test a baby's blood, as opposed to the mother's blood, is even more reliable. But either way, both kinds of screenings are invaluable.

"They can prevent their child from becoming mentally retarded, they can prevent their child from getting very sick...Some of those things are very preventable," said Vavelidis.

This kind of testing is not regulated nationally so some states test for as few as four disorders, while others test for 30 or more. Virginia now ranks near the top of that list, testing for 28 disorders at birth. In 2004, 124 children were diagnosed with a genetic disease through the newborn screening program here in the Commonwealth.

The Virginia Department of Health has a complete list of the disorders it will begin testing for at :

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