3MCC is a serious disorder that leaves newborns unable to metabolize leucine an essential amino acid found in many forms of protein. But because Giana, now age six, was diagnosed early, she was put on a special diet and is living a relatively normal life.
Newborn screening is done by testing a few drops of blood, usually from a newborn's heel, before hospital discharge. A positive result does not always mean the infant has a disorder. If a screening result is positive, the infant is referred for additional testing, and if the diagnosis is confirmed, and given treatment as soon as possible.
Parents can find information about the recommended newborn screening tests at the March of Dimes Web site: marchofdimes.com/nbs.
The March of Dimes Newborn Screening Report Card details state-by-state newborn screening requirements. The March of Dimes contracts with the National Newborn Screening and Genetics Resource Center to collect the data.
The ACMG recommendation to screen for 29 conditions has been endorsed by clinicians and researchers alike, including the American Academy of Pediatrics (AAP) and the ACHDNC. Both the March of Dimes and the AAP have called for national newborn screening guidelines as well as federal funding to help states improve their programs and help affected families receive needed services.
|Contact: Elizabeth Lynch|
March of Dimes Foundation