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Supplemental Newborn Screening

By Vincent Iannelli, M.D., About.com

Updated January 17, 2009

About.com Health's Disease and Condition content is reviewed by the Medical Review Board

When your baby is born, a screening test can be done to identify serious and life threatening disorders that he may have been born with. Although it began with testing kids for PKU in 1962, technology has expanded so that screening can be done for 35 to 55 different disorders, depending on which method is used.
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Background
Unfortunately, although testing is important, it depends on where you live as to what testing is done.

Some states, like Arkansas, California, Kansas, Kentucky, Utah, and West Virginia, only test for 4 conditions, including PKU, congenital hypothyroidism, galactosemia, and sickle cell disease.

Other states, like Alaska, Connecticut, Hawaii, Idaho, Illinois, Indiana, Iowa, Maine, Maryland, Massachusetts, Mississippi, Nevada, New York, North Dakota, Oregon, Rhode Island, Tennessee, Vermont, Virginia, Washington, and Wisconsin, screen for an additional 5 disorders, including congenital adrenal hyperplasia (CAH), biotinidase deficiency, maple syrup urine disease, homocystinuria, and medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

So a baby born with MCAD in Alaska can be identified at birth, be started on a special diet, and avoid serious disabilities, including mental retardation, or death, that the baby might have if he was born in California and not identified.

The March of Dimes recently released their report card on newborn screening that showed that most states still don't screen newborns for 9 core conditions that could identify many children with life threatening conditions.

In addition to the 9 core conditions that the March of Dimes recommends that children be screened for, there are even more tests that can be done. Some states have already started offering these supplemental newborn screening tests. However, if you don't live in one of these states or don't live in a state that at least tests for the minimum 9 core conditions as recommended by the March of Dimes, you can get the supplemental screening done on your own.

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