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Newborn screening tests now US-wide

Almost every baby born in the US is now screened for at least 21 of 29 serious but treatable disorders based on the recommendations by the American College of Medical Genetics. The so-called newborn screening involves pricking the baby’s heel and collecting a few drops of blood for testing. ┬áThe sample is then genetically tested for disorders which include phenylketonuria, maple syrup urine disease, cystic firbrosis, hypothyroidism, amino acid deficiencies, oxidative disorders and sickle cell anemia. A special test is conducted for hearing loss. A complete list of these disorders and a short description of each are given on the March of Dimes site. Some of these disorders can cause mental retardation and developmental problems but can easily be treated when identified early. Other can be fatal.

Four years ago, only about 38% of American babies born were screened for these disorders. As of December 2008, it is close to 100% as all 50 states in the US are now requiring screening for at least 21 disorders with 24 states for all 29 disorders. However, Pennsylvania and West Virginia still have to implement the legislation.

According to Time, each state pays almost $100 for each screening through Medicaid in cases where health insurance doesn’t cover the tests. Multiply that by 4 million American babies born each year, and we get an idea of the amount of money involved. However, considering the lives which can be saved and the disabilities which can be prevented, the money is worth it. Ask Californian David Swift whose daughter Giana was diagnosed with 3MCC (3-methylcrotonyl-CoA carboxylase deficiency), a condition wherein the body cannot metabolize the amino acid leucine 6 years ago. After diagnosis, the baby girl was placed on a special diet and now lives the life of a normal 6-year old. According to Swift, the test that identified the condition was conducted when the screening was still part of a pilot study. He initially declined but gave in to an insistent nurse. The nurse and the screening apparently saved Giana’s life.

If you want to find out more about the screening test, you can request for a free brochure about newborn screening at the March of Dimes site which is also available in Spanish. You can also check what and how many disorders your state is testing for.

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