Committee on Fetal & Newborn Medicine
Marcia Van Vleet, MD,FAAP, Chair
Rhode Island Newborn Screening to Cover 29 Conditions
Newborn screening in Rhode Island is undergoing a significant change. As of July 1, 2006, infants will be screened for 17 additional conditions. This change is consistent with a national trend toward expanded newborn screening, which is made possible by advances in screening technology.
The number of conditions that newborns are screened for is determined by each state and varies greatly among states. To address these differences, the American Academy of Pediatrics called for federal recommendations for newborn screening. In 2004, the Health Resources and Services Administration (HRSA) commissioned the American College of Medical Genetics (ACMG) to study and report on potential conditions for newborn screening. The 2005 ACMG report recommended that states consider newborn screening for a core panel of 29 conditions.
The Rhode Island Newborn Screening Task Force, chaired by James Padbury, MD, Chief of Pediatrics at Women & Infants Hospital, reviewed the 17 conditions in the ACMG recommended panel that were not already part of newborn screening in Rhode Island. The Task Force determined that these additional conditions meet criteria for newborn screening in Rhode Island and recommended them for approval by the Director of Health. The recommendation was accepted and a regulatory change was subsequently passed, paving the way for an expansion of newborn screening to 29 conditions, effective July 1, 2006.
The 29 conditions fall into five categories: Amino Acid Disorders, Organic Acid Disorders, Fatty Acid Oxidation Disorders, Hemoglobinopathies, and a group of six other conditions, including hearing loss and cystic fibrosis.
Newborn screening will still use dried blood spots obtained via the newborn “heel stick,” which is done in the first 24 to 48 hours of life. Sample collection techniques and the amount of blood required will remain the same. Keeping with current program practices, normal results will be mailed to pediatricians and available in KIDSNET. Abnormal results will be reported to pediatricians and specialty care providers via telephone and a follow-up fax.
For more information about these changes, contact the Rhode Island Newborn Screening Program at (401) 222-5982. General information about expanded newborn screening is available from the following websites:
http://genes-r-us.uthscsa.edu/
http://www.medicalhomeinfo.org/screening/newborn.html http://www.marchofdimes.com/professionals/580.asp
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