| (ATLANTA, GA)— As a result of the newborn screening expansion in Georgia, all babies born since January 1, 2007 have been screened for a uniform 28 disorders. Sixty-one of these babies have been identified as having one of the genetic or functional disorders included in the screening and nineteen of these babies were identified because of the expanded screenings that began on January 1. Twelve of the 19 babies identified through the newly expanded screening have been diagnosed with Cystic Fibrosis and seven have been diagnosed with a metabolic disorder. One mother was also diagnosed with a metabolic disorder because of her newborn’s positive screen. Expanded newborn screening has enabled early diagnosis and therefore these potentially devastating conditions can be successfully managed or treated to prevent severe consequences such as death and disability.
“Without the expansion of the screening panel from 12 to 28 this year, many of these babies’ disorders would not be identified until two or three years of age,” says Tricia Page, Genetics Counselor and NBS Program Manager at the Department of Human Genetics at Emory University School of Medicine. “Now that this early diagnosis is possible, parents have the opportunity to become knowledgeable about their child’s disorder before he or she becomes ill, has to receive treatment or endure time in the hospital. Six months ago many of these children may have died or been permanently disabled as a result of their unidentified genetic or metabolic disorders.”
Moving forward, the March of Dimes is working with the state to approve and appropriate the necessary measures to make a hearing screen available for all babies born in Georgia in an effort to comply with all 29 screens recommended by the American College of Medical Genetics (ACMG). Currently, the hearing screen is voluntary in Georgia but 24 other states have already mandated this important screen.
The March of Dimes recommends that all babies be screened for a core set of 29 identifiable and treatable disorders, including Cystic Fibrosis (CF), as recommended by the American College of Medical Genetics. In 2001, the March of Dimes Georgia Chapter developed a multi-million dollar statewide pilot program to expand newborn screening testing to be in accordance with the national recommendations.
In 2006 the program’s rules and regulations were amended to expand the number of disorders Georgia screens from 12 to 28 beginning January 1, 2007. CF was among the new disorders added to Georgia’s panel with this expansion. Since CF cannot be screened by the Tandem Mass Spectrometer (MS/MS), which is used for the metabolic disorders, additional equipment was necessary.
The Department of Human Genetics at Emory University’s School of Medicine, which has a contract with the state to provide all confirmation testing and follow up services for the newborn screening program, agreed to do all the CF screening and acquire the needed equipment – the Aquapure DNA Extraction System. The March of Dimes provided Emory with $77,000 to use towards the purchase of this system.
Visit www.marchofdimes.com/nbs or www.marchofdimes.com/georgia for more information on newborn screening, including a list of the recommended 29 disorders.
The March of Dimes is a national voluntary health agency whose mission is to improve the health of babies by preventing birth defects, premature birth and infant mortality. Founded in 1938, the March of Dimes funds programs of research, community services, education, and advocacy to save babies and in 2003 launched a campaign to address the increasing rate of premature birth. For more information, visit the March of Dimes Web site at www.marchofdimes.com/georgia or its Spanish Web site at www.nacersano.org.
PHOTO AVAILABLE OF NEWBORN HEEL PRICK.
CONTACT: Brittney Gove, 404-350-9800 ext. 224, bgove@marchofdimes.com
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