May 22, 2003 

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Birth Alert (video)
April 03, 2003

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Interviewees: Grace Fondacaro, Mother; Nancy Green, The March of Dimes.

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Produced by Liza Acevedo

Copyright © ScienCentral, Inc., with additional footage courtesy The March of Dimes.

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Elsewhere on the web

Save Babies Through Screening

National Newborn Screening and Genetics Resource Center

Neo Gen Newborn Screening

Newborn screening is a simple procedure that can alert new parents to rare genetic disorders their babies might have.

But as this ScienCentral News video reports, not all states are screening for all disorders.

The Importance of Screening

Michael Fondacaro is a five-year-old boy who cannot walk, sit up, or speak on his own. He has a rare genetic disorder called Glutaric Acidemia Type I, an enzyme deficiency that prevents his body from breaking down two amino acids, lysine and tryptophan, which are found in protein-rich foods. As a result, he cannot properly digest foods like chicken or beef.

“If it had been detected at birth,” explains his mother, Grace Fondacaro, “we would have known right away to give him a limited protein diet.” But the Fondacaros live in New Jersey, a state that does not require babies to be screened for this disorder. So they fed him a regular diet, and the level of glutaric acid in his body from his inability to digest protein became so high and toxic that it caused permanent brain damage.

Dr. Nancy Green, medical director of the March of Dimes, explains, “These are state-based programs. So states make their own decisions about what disorders they test for. And as a result, there is tremendous state-to-state variation in the quality of the programs.”

The reason not all states test for these disorders is mostly financial. The diseases are rare and, in some cases, untreatable, and the equipment needed to test for them is often very expensive.

The March of Dimes advocates that all babies in all states be screened for at least nine specific inborn errors of body chemistry, as well as hearing loss. All of these disorders can be accurately diagnosed in newborns, and the screening is easy to do. A drop of blood from a simple heel-prick test would have revealed Michael Fondacaro’s disorder, and could have also been tested for over 30 other disorders.

Dr. Green recommends that parents ask doctors about newborn screening before their babies are born. “The way to get more information about newborn screening is to ask pediatricians or obstetricians, preferably before the baby is born. Once the baby is born, there are so many other issues for the newborn and the parents of a newborn that sometimes newborn screening may not be at the top of the list.”

Another thing parents can do, if they live in a state that doesn’t screen for all disorders, is have the screening done themselves. “Parents do have the opportunity to have their babies tested through private labs,” says Dr. Green. Private screening usually costs about $60.

The Fondacaros went to a private lab to screen their second child, Julie, who does not have Glutaric Acidemia Type I. “[Screening] is very important,” says Grace Fondacaro. “It saves lives and it prevents lives from being damaged.”

by Karen Lurie

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