Sunday, February 22, 2009

Newborn screenings provide early intervention for babies with genetic, metabolic disorders

From Health News:

There has been a new breakthrough for babies with a new protocol being required to screen for 29 life-threatening and debilitating conditions directly following birth. Mandatory in all 50 states, 24 states along with the District of Columbia have already implemented the new screening.

These genetic, functional, or metabolic disorders can lead to major disabilities, mental retardation, and even death if they are not detected directly after birth and treated promptly and properly. Through the newly required screenings, babies can potentially be easily treated and avoid any detrimental outcomes from the conditions.

The March of Dimes and the American College of Medical Genetics played a large role in the new legislation by the U.S. health care system. Before the new legislation, each state had their own requirements for infant screenings, ranging from some states only testing for 4 condition and others screening for up to 29.

The test is a simple blood test. The March of Dimes estimates the cost of the test being about $100.

Previous to the new law or rule, it would depend on the state a child was born as to whether he or she was tested for many of these conditions. Early detection means that detrimental effects could very easily have been avoided, with some steps being as simple as a new diet.

A few of the treatable conditions are phenylketonuria (PKU), where the body can’t process phenylamine, which if accumulates in the body can cause serious brain damage and mental retardation, congenital hypothyroidism that can cause brain and growth retardation without treatment, sickle cell anemia, cystic fibrosis, and hearing loss, along with several others.

You can visit the March of Dimes website to see a list of all the conditions that are currently being screened for by state.

“This is important because the conditions are all treatable, but if you don’t diagnose the conditions early, they could lead to lifetime disability or even death,” according to Dr. Jennifer L. Howse, president of the March of Dimes, the advocate for the more expanded and consistent treatment across all 50 states.

She said, “With the help of volunteers, parents and our partners, we have nearly erased the cruel injustice that sentenced babies to an undetected but treatable metabolic or functional condition based on their birth state. This is a success story.”

According to the March of Dimes report even though all states as of December 31, 2008 now have laws or rules that require screening for at least 21 of the life threatening and debilitating conditions, Pennsylvania and West Virginia haven’t yet implemented their expanded programs.

Newborn screening has already saved many children’s live since the March of Dimes first report card was issued in 2005 that measured by states for newborn screenings, it reports.