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Fall 2004

Newborns Screened for 30 Genetic Diseases at UCLA

In a pioneering program at Mattel Children’s Hospital at UCLA, all newborn babies will be tested for 30 genetic diseases using a simple blood sample. The test will help identify the one child in roughly 5,000 who may have some inherited metabolic disorder.

UCLA is one of only two hospitals in California that have decided to voluntarily administer this test to all of its newborns.

“With proper diagnosis, parents and physicians can often put these children on special diets or otherwise treat the condition,” notes Stephen Cederbaum, M.D., UCLA professor of psychiatry, pediatrics, and human genetics. Undetected and untreated, these diseases can quickly prove fatal or lead to mental retardation.

Babies born in California have routinely been tested for PKU, galactosemia, primary congenital hypothyroidism, and sickle cell anemia. The Expanded Newborn Screening uses a new technology known as tandem mass spectrometry that enables scientists to detect up to 30 more inherited conditions from a single drop of blood taken from the baby’s heel.

 “The body processes—or metabolizes—various proteins and fats in order to grow and develop normally. A metabolic disorder occurs when the body is not able to use or break down the various proteins or fats properly. This new screening can reveal a significant number of these disorders before the baby becomes seriously ill, and when treatments are most effective,” notes Dr. Cederbaum.

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