Expanded Screening Newborns
What conditions do expanded screenings test for?
by The Babble Staff
December 11, 2006
Expanded Screening of Newborns
THE BABBLE TAKE
All newborns are subjected to a small pinprick on the heel to extract a drop of blood. This tiny blood sample is sent to the laboratory and can be used to detect babies at risk for a number of disorders and diseases. In the last couple of years, it has become increasingly common to expand these screenings to include upwards of thirty disorders. Those in favor of screening for larger numbers of disorders point to the fact that early detection can save lives. Many states, Missouri among them, have mandatory screenings for an expanded number of rare diseases and disorders. Other states merely screen for four or five conditions. Increasing the scope of testing may seem like a win-win situation, but more screening also produces many more false positive test results. In the Missouri pilot study only two of the ten babies initially identified as at risk actually had disorders. Critics worry that the increased number of false positive test results subject parents and infants to needless hospitalization, dysfunction and stress.
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Children's Hospital St. Louis
"In July 2005, the state of Missouri expanded its mandatory newborn screening program to include testing for 20 additional metabolic disorders and two hemoglobinopathies, bringing the total screenings to 27. [...] When not detected at birth, many of these diseases can result in severe, devastating illnesses that are preventable, sometimes by simple measures."
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American Family Physician
"The Centers for Disease Control and Prevention (CDC) released recommendations on the screening of newborns for cystic fibrosis. The report includes an evaluation of the benefits and risks of this type of screening. It also provides recommendations on how to effectively implement screening programs for states that choose to routinely screen newborns for cystic fibrosis."
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Children's Hospital and Regional Health Center, Seattle
"More tests may mean more false-positive results. All states require some degree of screening tests for newborns, from more than 40 tests to fewer than five. [...] The advent of tandem mass spectrometry equipment has made it possible to test newborns for multiple conditions, simultaneously, with a single drop of blood. The blood is collected through a heel prick to the infant before they leave the hospital, or within one week of being born at home."
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Mayo Clinic
"[The] expanded screening program will screen at birth for more than 20 treatable disorders [...] and allow for the initiation of treatment before the infants suffer lasting harm. The screening is performed on a small sample of blood obtained by pricking a baby's heel before discharge from the hospital, usually on the first or second day of life. [...] Results are known in 24-48 hours."
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Children's Hospital Boston
"Expanded newborn screening for biochemical genetic disorders may lead to improved health outcomes for affected children and lower stress for their parents, however, false-positive screening results may place families at risk of increased stress, according to a study in the November 19 issue of The Journal of American Medical Association (JAMA)."
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