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Detecting Problems

(page 3 of 4)

Ping says that she was furious that it took so long to find the cause of her daughter's illness. "With all the testing that was done, why wasn't there anyone who thought of running that test sooner?" she says. "It's like it was completely hit or miss."

Ping says that she was furious that it took so long to find the cause of her daughter's illness. "With all the testing that was done, why wasn't there anyone who thought of running that test sooner?" she says. "It's like it was completely hit or miss."

The Oliphints and Pings are advocates for the expanded newborn screening including the ASA screen and say they would like to see all states require it. In addition to giving gift certificates for expanded screenings to pregnant friends, the Oliphints maintain a Web site, which has received more than 3,000 hits in the past 12 months.

The expanded newborn screening checks for rare disorders, that effect one in 25,000 to one in 200,000 newborns. But, the required Texas screens test for more common disorders affecting one in 10,000 to 15,000, Hubbell says.

"But when the rare disorders are present, they are devastating," he says. "If it's your child, it doesn't seem so rare at all. So if the family is concerned or if there is a family history of any of these disorders, having the expanded screen done is a good idea."

It's important to note that the expanded screens don't pick up every disorder out there, Hubbell says. "You have to be on the lookout at all times with young children and watch for symptoms as they grow," he says.

Hubbell recommends a complete blood count, a blood culture and an antibody screen for newborns if there is a concern about infection. Such concern arises with babies born to mothers who had a fever during birth, moms with a prolonged rupture of the membranes for 12 hours or longer, and moms with a history of group b strep colonization in the vagina and an infection in the birth canal, he says.

"In addition, we will do a urinalysis of the baby for infection. If they are running a fever, we will also do a spinal tap to check their spinal fluid for bacteria as well," he says.

Babies who are born with dysmorphic features characteristic of Down syndrome and other genetic abnormalities are normally screened with a chromosomal analysis.

Babies who are large for their age - or babies who are born to mothers with gestational diabetes - are screened for glucose to make sure that their sugar levels don't fall too low. Conversely, if babies aren't gaining weight on schedule, Hubbell checks for metabolic disorders of amino acids and organic acids.

"The bottom line is that it's very important to have a very good family history and get those pre-natal checkups so we can catch this stuff before it becomes a problem." he says.

Screenings on newborns

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