I had recently written a blog about some parents who had refused (or tried to delay) their baby’s newborn screening tests on the basis of religious beliefs. I thought it would be appropriate to take some time to talk about what exactly newborn screening tests screen for.
Newborn screening is the practice of testing every newborn infant for certain disorders some of which, if left untreated, could lead to mental retardation. Most of these disorders are known as metabolic disorders that prohibit or interfere with the way the body uses nutrients. Newborn screening tests also screen for disorders that have to do with hormones or blood. Generally, metabolic disorders will hinder normal growth and parents can pass on the genes without even knowing they’re carriers.
All of the diseases that are screened for with a newborn screening test are fairly rare. However, early detection and treatment can be the difference between mental retardation or severely impaired physical development and healthy, normal development. One example is phenylketonuria (PKU). PKU is the absence of a certain amino acid necessary for normal growth. If left untreated, it will eventually cause mental retardation. However, infants who are put on a special diet right away can usually avoid the mental retardation. Other diseases that are screened, if detected early can prevent developmental problems or even death. It is not recommended that the testing be done within the first 24 hours of birth however, it is recommended that all newborns be tested before they go home.
States and Mandatory Screening
All states have their own screening programs and in most states screening is mandatory. However, there seems to be a great disparity between states as to how comprehensive the program is. States test for anywhere from 4 to 30 diseases. The average state program tests for 4 to 10 diseases. However, with new technology, such as tandem mass spectrometry, (a technique that can test for 30 diseases from one blood sample), state laws are changing.
However, there is some controversy over the newer technology that tests for all the diseases. One obvious controversy is that parents may want to know before birth if their child has a disease for which there is no cure or treatment. Another issue is that doctors are unsure as to whether or not they want to test at birth for diseases in which there is no treatment available. Finally, there are issues over whether the state should pay for the newer technology or whether or not a patient’s insurance company should pay.
The AAP in conjunction with the Health Resources and Services Administration have set up a task force and are making the following recommendations:
*all state screening programs should reflect current technology
*all states should test for the same disorders
*parents should be informed of the screening procedures and have the right to refuse the testing as well as the right to keep the results private and confidential
*parents should be informed about the benefits and risks of newborn screening
If you get an abnormal test–don’t panic. A screening test is not the same as a diagnostic test. You will likely need to do more testing to find answers.
Related Articles:
New Moms Are at Risk for More than PPD