newborn screening | Fit Pregnancy

newborn screening

Simple tests that could save your baby's life


When it works, it really works> The passion that surrounds this subject is understandable: When a treatable disorder is detected shortly after a baby is born, the child has a greater chance of leading a normal life. “Newborn screening is one of those quietly efficient prevention programs that works,” says Bradford Therrell, Ph.D., director of the National Newborn Screening and Genetics Resource Center in Austin, Texas. “Most parents don’t even know the tests are being done,” Therrell adds.
    One such example is testing for PKU (phenylketonuria), a potentially devastating metabolic disease that can cause brain damage if not treated. All states test newborns for this disorder; the treatment, which is a simple dietary adjustment, has helped thousands of babies live full, normal lives since screening began in 1965.                 Unfortunately, not all detectable disorders are treatable. In fact, some public-health experts debate the wisdom of testing for a disorder for which nothing can be done, while others believe that it is best for parents to know what a baby’s future holds. “Making the diagnosis can help a family adjust their expectations for the baby,” says Nancy Green, M.D., medical director for the March of Dimes, which supports expanded screening.

Educate yourself>  Because the tests being offered in individual states are changing so quickly, some doctors may not have the latest information. Before you have your baby, find out all you can about screening. Here’s how:

  •  Ask your obstetrician for information about your state’s newborn screening program. Then call your state health department or visit its Web site to find out what tests are offered routinely and what tests you have to request. For example, some states have a basic screening program for all newborns but also operate a pilot program or optional screening program—which parents must request—covering additional disorders.
  • To see which disorders your state tests for, visit the National Newborn Screening and Genetics Center Web site at http://genes-r-us.uthscsa.edu. Click on “NBS Disorders Screened—Listed by State,” then your state.
  •  Contact a private lab if your state does not offer the complete range of screening tests (see “Take Charge of Your Baby’s Testing,” below). The lab will provide you with an information packet complete with filter paper, which your pediatrician will use to collect a blood sample for screening. The specimen should be collected 24 to 48 hours after birth and immediately mailed to the lab for analysis. Results are reported only to your doctor. 
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