Simple blood test for newborns would save lives

Jul 12 2007

The president of the March of Dimes Dr. Jennifer Howse says a simple blood test could save many newborns from premature death or mental retardation.

In it's latest annual report on newborn screening the March of Dimes says many newborn babies are not tested for treatable and often curable conditions which can be life threatening.

Almost 90 percent of all babies born in the U.S. live in states that require screening for at least 21 life-threatening disorders, but the American College of Medical Genetics (ACMG) says every baby born in the U.S. should be screened for 29 genetic or functional disorders, which if diagnosed early, can be successfully managed or treated to prevent severe consequences.

As a result of four years of intensive advocacy efforts by the March of Dimes and others 3.6 million babies are now screened each year but Dr. Howse says 500,000 newborns are not tested.

Dr. Howse says all babies must be screened, to receive the immediate treatment necessary to survive and lead healthy lives and blames the lack of federal guidelines for making it difficult for states to get support for needed legislation.

In states that do not follow the ACMG recommendations, the March of Dimes staff and volunteers are working with governors, legislatures and parent groups to advocate for expanded newborn screening on a state-by-state basis.

But the fact remains that although newborn screening is offered at most hospitals, it is not required by law and only 6.1 percent of babies are born in states that required screening for only 10 to 20 of the core 29 conditions and 6.2 percent of newborns will get screening for fewer than 10 conditions.

Dr. Howse says such disparities in state newborn screening programs mean some babies may die or develop brain damage or other severe complications because they are not identified in time for effective treatment.

Dr. Howse says all babies in America should receive the benefits of being screened for all 29 treatable conditions, but currently only 13 states and the District of Columbia require screening for all of them.

The conditions involved in newborn screening are rare, but can be very severe and the tests are important because each of the 29 conditions on the March of Dimes list is either curable or highly treatable if it is found within 48 hours after birth.

The test is a simple blood sample done by pricking the baby's heel and the diseases that the March of Dimes says need to be tested for are mostly genetic diseases, such as phenylketonuria (PKU).

PKU is an enzyme deficiency and if not detected allows toxins to build up in the baby's system which it can be fatal, or cause severe mental retardation.