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Most US babies now get newborn screening tests

17 July 2007
Appeared in BioNews 416

Most babies born in the US are now screened for 29 medical conditions, including sickle cell anaemia, cystic fibrosis and hearing loss, according to a new report by the March of Dimes. Two years ago, the charity revealed that only 38 per cent of infants underwent at least 21 of these tests, despite recommendations made in 2004 by the American College of Medical Genetics (ACMG) that every newborn should be tested for all 29. This has now increased to 87.5 per cent, around 3.6 million babies, with thirteen states screening for all 29. However, half a million babies are born in states that only require screening for ten conditions.

'While this important expansion of newborn screening is very good news for families, the lives of 500,000 newborns who still aren't tested hang in the balance', Dr Jennifer L. Howse, president of the March of Dimes said in a press release. She continued: 'Despite the pleas of parents, clinicians and advocacy groups the United States still lacks consistent federal guidelines for newborn screening. Babies must be screened, to receive immediate treatment necessary to survive and lead healthy lives. The lack of federal guidelines makes it difficult for states to get support for needed legislation'.

Every US state requires that infants are tested for a range of conditions, including several genetic disorders and hearing problems, but there are no national screening guidelines. Following concerns over this lack of uniformity, the Department of Health and Human Services (DHSS) commissioned the ACMG to recommend a standard panel of tests. The experts looked at 84 different conditions, and concluded that it should be compulsory to screen for 29 selected 'core' conditions, identifiable via a specific test 24 to 48 hours after birth. The recommendations of the resulting report, 'Newborn Screening: Toward a Uniform Screening Panel and System', were endorsed by the March of Dimes and the American Academy of Pediatrics.

All of the 29 disorders listed in the panel can potentially be treated much more effectively if diagnosed as soon as possible after birth. They include rare conditions such as maple syrup urine disease, as well as more common genetic disorders such as cystic fibrosis, sickle cell anaemia and phenylketonuria (PKU). In the UK, all newborns are currently screened for PKU and congenital hypothyroidism, using a drop of blood taken from the heel shortly after birth. In addition, screening programmes for inherited blood disorders, including sickle cell anaemia (haemoglobinopathies) and cystic fibrosis have recently been implemented throughout the country.

Most Babies Receive Recommended Newborn Tests, But Half A Million Still Not Screened For Serious Genetic Disorders
ScienceDaily |  14 July 2007
Most U.S. Newborns Get Screening Tests
WebMD |  11 July 2007
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