As you know, if you have had a baby, all babies undergo routine newborn screening for multiple metabolic disorders. The initial newborn screening test is performed on a heelstick blood sample in the first 24-48 hours after a baby’s birth and then the baby is typically re-screened after about 1-2 weeks as some of the metabolic disorders are only detected after a baby has been on milk (breast or formula) for a while.
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The use of newborn screening tests is not federally mandated, but varies from state to state. In most cases states screen for somewhere between 25 – 30 tests routinely. There is a push for these newborn screening tests to become universally mandated so that all states would be screening for the same diseases. For instance, the state of Texas now screens for 29 diseases with the addition of screening for cystic fibrosis in December of 2009.
There is an committee, the Secretary’s Advisory Committee for Heritable Disorders in Newborns and Children (ACHDNC) that reviews requests from individuals or organizations to nominate a heritable disorder to be considered by the ACHDNC for inclusion in the recommended uniform screening panel. The advisory committee adopted a list of 29 recommended conditions for inclusion to the uniform screening panel in September of 2005. At the end of January of this year the panel recommended to add severe combined immunodeficiency (SCID) to the uniform newborn screening panel. This is the first addition since 2005.
While the newborn screen looks at diseases that you may know more about such as thyroid disease, adrenal insufficiency, sickle cell disease and PKU (the initial screening test developed in the 1960’s) there are other less known diseases that may be screened for. There were several diseases that the committee considered for inclusion, but SCID was the only disease that was recommended for inclusion. SCID affects somewhere between 1 in 100,000 to 1 in 40,000 newborns. This group of disorders is characterized by the absence of an immune system which results in recurrent infections which may be life threatening if not treated in the first months of life.
So, when you have a new baby, check to see which metabolic diseases your state is screening for. It does seem incongruous to me that a baby born in Florida may not be screened for the same diseases as a baby born in New York or Nebraska.
A universal test seems to make sense so that ALL babies are treated equally and parents are not confused as to which disease process their baby has been screened for. A baby’s possible life threatening disease should not be screened differently based upon the state they live in!
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