How Newborn Screening Is Done
In the first 2 or 3 days of life, your baby's heel will be pricked to obtain a small blood sample for testing. Most states have a state or regional laboratory perform the analyses, although some use a private lab.
It's generally recommended that the sample be taken after the first 24 hours of life. Some tests, such as the one for PKU, may not be as sensitive if they're done too soon after birth. However, because mothers and newborns are often discharged within a day, some babies may be tested within the first 24 hours. If this happens, experts recommend that a repeat sample be taken no more than 1 to 2 weeks later. It's especially important that the PKU screening test be run again for accurate results. Some states routinely do two tests on all infants.
Getting the Results
Different labs have different procedures for notifying families and pediatricians of the results. Some may send the results to the hospital where your child was born and not directly to your child's doctor, which may mean a delay in getting the results to you.
And although some states have a system that allows doctors to access the results via phone or computer, others may not. Ask your doctor how you'll get the results and when you should expect them.
If a test result comes back abnormal, try not to panic. This does not necessarily mean that your child has the disorder in question. A screening test is not the same as diagnostic test. The initial screening provides only preliminary information that must be followed up with more specific diagnostic testing.
If testing confirms that your child does have a disorder, your doctor may refer you to a specialist for further evaluation and treatment. Keep in mind that dietary restrictions and supplements, along with proper medical supervision, often can prevent most of the serious physical and mental problems that were associated with metabolic disorders in the past.
You also may wonder whether the disorder can be passed on to any future children. You'll want to discuss this with your doctor and perhaps a genetic counselor. Also, if you have other children who weren't screened for the disorder, consider having testing done. Again, speak with your doctor.