Nearly two-thirds of all babies born in the US this year will be screened for more than 20 life-threatening conditions, according to a new report by the March of Dimes. It follows last year's call from the charity for all states to carry out a battery of 29 tests recommended by the American College of Medical Genetics (ACMG). At that time, only Mississippi was carrying out all the tests, with wide variation between the other states. Now, Iowa, Maryland, New Jersey and Virginia, as well as the District of Columbia, are also screening for all 29 disorders, and the number of tests being carried out across the country has nearly doubled.
The March of Dimes says that despite these improvements, disparities between state screening programs means that some babies will die or develop severe complications from these conditions because they are not diagnosed in time for effective treatment. 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 sickle-cell disorders (haemoglobinopathies) and cystic fibrosis are currently being implemented throughout the country.
Commenting on the latest report, Dr Howse said that 'whether babies are screened and get the immediate treatment necessary to lead a healthy life should not depend on which state they live in'. Howse advised expectant parents to check the March of Dimes website to see if their state tests for at least the 29 core conditions, and if not, to consider paying for a commercial testing - which cost around $25-$100, and is often covered by health insurance in the US.
Sources and References
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Nearly Two-Thirds of Babies Receive Most of the Recommended Newborn Screening Tests
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More states test newborns for disorders
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