Newborn Screening News in Missouri

As of July 1, 2007 Missouri screens for 28 of the 29 disorders on the core panel recommended by the American College of Medical Genetics and endorsed by the March of Dimes.  Biotinidase will be added in late 2008.  The Newborn Screening Program continues to contract with the four genetic centers and five hematological centers for newborn screening follow-up and other genetic services.  Missouri just published its first Newborn Screening Report.  Data collected for this report was with 2006 data, but the report will be updated annually.   The Missouri Genetic Advisory Committee continues to meet annually, the last meeting was held on November 2, 2007.  One of the highlights of the meeting was a presentation of a potential joint project of the Missouri Department of Health and Senior Services (DHSS), Newborn Screening program, the National Newborn Screening and Genetics Resource Center (NNSGRC), and the Genetic Tertiary Centers to evaluate the provision of clinical genetic services to newborns identified through the Missouri Newborn Blood Spot Screening program and confirmed positive with a disorder.  The project was given approval to proceed and the respective Institutional Review Boards have approved the project.  The project’s estimated completion date is by May 2008.  The Newborn Hearing program continues to make great strides in identifying babies with hearing loss.  In 2006, 98.2% of all babies born in Missouri were screened for hearing.  However, Missouri still has some more work to do to assure that infants identified with a hearing loss are in some intervention within 6 months.  In 2006, 63.6% of newborns with a permanent hearing loss received early intervention within 6 months.  The newborn screening report is on the DHSS website at http://www.dhss.mo.gov/NewbornScreening/

Patrick Hopkins with tandem mass spectrometers