by Julie Snyder
Leah was born one hot day in August. Her Apgars were 9 and 10. Even as a newborn she had plenty of energy; kicking and wiggling, making eye contact, interested in the world around her. She was perfect!
Two weeks later we received a call from our doctor that the newborn screen had picked up a possible problem. Her T4 level was below the 10th percentile. Immediate diagnostic testing revealed her thyroid gland had failed to migrate during the first trimester. She wasn't producing hormones necessary for mental and physical growth. The treatment for congenital hypothyroidism is simple, effective and inexpensive.
By the time Leah was 3 weeks old, her life-long treatment was well established. She "took" Synthroid, a levothyroxine, daily. Her THS, T3 and T4 blood levels were checked regularly and the dosage adjusted as she grew. Today she's an awesome, amazing, young woman.
Would her life have been different before CH was included on the newborn screening? Probably. Her condition wouldn't have been discovered early. Most likely Leah would have grown poorly and been delayed in her development. After several years, she would have displayed the recognizable facial and body features of cretinism. Her IQ would have probably been below 80. Quite a contrast!
Newborn screening identifies conditions that can affect a child's long-term health, quality of life or survival. Using a few drops of blood from the newborn's heel, the tests check babies for treatable genetic, endocrinologic, metabolic and hematologic diseases. These important tests have been adopted by most countries around the world although the lists of screened diseases vary widely.
Which babies are tested? All newborns are required to get tested. Most babies appear healthy at birth, full of life and possibility. Yet they could be hiding a rare or potentially devastating disease. Identifying and treating infants with these disorders early can help ensure a long, healthy life, so it is important to get these tests done correctly and on time. Early detection of these abnormalities can prevent severe disability, mental retardation or even death.
When is the test done? Most accurate results are obtained when the initial screening is performed between 48 hours to five days. 24 to 48 hours is satisfactory. A repeat specimen should be taken if your baby was tested before he was 24 hours old.
How are screening tests done? A health care provider pricks the baby's heel to obtain a few drops of blood for laboratory analysis. One blood sample can be used to screen for 55 or more disorders. Usually, the baby’s blood specimen is sent to a state laboratory for testing, and results are sent to the health care provider responsible for the infant's care. If the tests show abnormal results, diagnostic testing is needed.
Babies are also screened for hearing impairment with one of two tests that measure how the baby responds to sounds. These tests are done in the hospital newborn nursery, using either a tiny soft earphone or microphone that is placed in the baby’s ear. If either of these tests shows abnormal results, the baby needs more extensive hearing testing to see if he does have hearing loss.
What disorders are included on the screen? Newborn screening programs are state based and vary in the number and types of conditions for which they test. Within the United States, some states test for 26 conditions and others for 50 or more. Check the individual state listings at National Newborn Screening and Genetics Resource Center for details on each state's newborn screening program.
What is the expanded screen program? The expanded newborn screening blood tests uses Tandrem Mass Spectrometry to test additional rare disorders. Almost no region tests for all 54 diseases recommended by the American College of Medical Genetics. If you would like your baby tested for more disorders than are covered by your state's newborn screen you will have to make arrangements.
How will I get the results of the test? Your health care professional will contact you if test results indicate a problem. Otherwise, you can ask about the results at your baby's well child checkup.
Do babies born at home need to be tested? Yes. Your birth attendant should provide a test. If not you can arrange testing at your first doctor visit. Because some of the disorders detected on a newborn screen require immediate treatment, it is best to have the screening sent off within the first 5-6 days after birth.
What if there is a family history of a disorder? If the family history contains a disorder in the panel, the screening laboratory should be informed to expedite processing. The treatment for many endocrinologic and metabolic disorders must begin as soon after birth as possible.
On the Horizon
Improvements in technology and medicine allow more treatable conditions to be added to newborn screening. Educating and urging your state government to add these additional disorders to its newborn screening program allows all children, regardless of birth place, screening for many rare but treatable conditions.
What about DNA testing? In the future, it is possible that DNA testing could be part of the newborn screen. Knowing a baby's genetic vulnerability would allow parents the change to prevent potential disease.
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