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California Offers Additional Newborn Screening Tests For Genetic Birth Defects Using Mass Spectrometry.

Business Editors/Health & Medical Writers

SAN FRANCISCO, Calif.--(BUSINESS WIRE)--January 7, 2002

These Tests May Mean the Difference Between a Healthy

Baby or a Severe Disability for a Baby

Because the March of Dimes mission is to improve the health of babies, the foundation commends Governor Davis for signing Assembly Bill 2427 (Kuehl) on September 28, 2000, as it establishes a pilot program for the development and evaluation of genetic disease testing, effective today, January 7, 2002. While California is often a trailblazer for innovative technology and medicines, the state has lagged behind other states as far as the number of newborn screenings performed. However, due to the Governor's action, the number of newborn screenings available in California will increase from four to approximately 30 different diseases.

"These tests, done immediately after birth, may mean the difference between a healthy life or a severe disability for a baby," said Dr. Jennifer Howse, president of the March of Dimes. "Tragedy can sometimes be avoided by quickly identifying a problem and providing the appropriate medical treatment."

As part of the January observance of Birth Defects Prevention Month, the March of Dimes is announcing it has widened its core list of recommended newborn screening tests for all states to include the metabolic disorder called medium chain acyl-CoA dehydrogenase (MCAD) deficiency -- affecting about 1 in every 15,000 infants born in the U.S., and can lead to mental retardation or death if not identified shortly after birth. The other tests that make up the March of Dimes recommended core list are: phenylketonuria (PKU); congenital hypothyroidism; congenital adrenal hyperplaisa (CAH); galactosemia, biotinidase deficiency; maple syrup urine disease; sickle cell anemia; and hearing screening. California will now be screening for all of these genetic birth defects, except biotinidase deficiency, through the use of a tandem mass spectrometer, which electronically "weighs" the compounds found in blood samples and can precisely identify unusual levels of certain molecules not detectable by other means.

"The March of Dimes is convinced that tandem mass spectrometry has reached the point where we can recommend it for MCAD deficiency testing for every baby and are pleased it is available in California," said Nancy Green, M.D., associate medical director of the March of Dimes.

Approximately four million infants are born annually in the United States, and of these, an estimated 150,000 are born with serious birth defects. If conducted, these newborn screening tests provide early identification of infants affected by certain genetic, metabolic, hormonal, and/or functional conditions for which there is an effective treatment with early intervention.

"The national observance of Birth Defects Prevention Month in January is a good time to draw all peoples' attention to the vital importance of newborn screening tests," said Susan Abbott Rogge, public affairs chair of the March of Dimes Northern California Chapter.

The March of Dimes is a national voluntary health agency whose mission is to improve the health of babies by preventing birth defects and infant mortality. Founded in 1938, the March of Dimes funds programs of research, community services, education, and advocacy to save babies. For more information, visit the March of Dimes Web site at, its Spanish Web site at, or call 1-888-MODIMES.
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Publication:Business Wire
Date:Jan 7, 2002
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