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Genetic Testing in Newborns

Infants are required by state law to receive standard genetic tests when they are born. The tests that are administered will vary from state to state. Aside from state regulations, there are some tests that the hospital will want to administer, even if the tests are not required. These tests are designed to find out if your newborn has certain serious genetic conditions. Physicians may want to conduct the tests, even if the genetic conditions are rare, because the conditions can be serious, or even deadly, if not caught in time.

  1. History of Genetic Testing for Newborns

    • In the 1960s Robert Guthrie developed a test that could detect phenylketonuria, or PKU. PKU is a serious metabolic disorder that makes sufferers unable to produce the enzyme that processes phenylalanine, an amino acid needed for growth and the body's use of protein. According to KidsHealth.org, an excess of phenylalanine causes damage to brain tissues, as well as developmental problems. Fortunately, the introduction of PKU testing in infants allowed physicians to prescribe the special dietary regimen that prevents the phenylalanine buildup.

    Conducting the Tests

    • When your infant is born, a member of the nursing staff will collect a drop of blood from the baby. The test is not intrusive and only requires a quick and sterile pinprick on the baby's heel to collect the blood for testing. "Almost all states now screen for more than 30 disorders," and "the tandem mass spectrometry can screen for more than 20 inherited metabolic disorders with a single drop of blood," says KidsHealth.org.

    Types of Disorders Covered by Testing

    • In addition to state mandated tests, other genetic tests may be administered, based on several factors. For example, if your family has a history of certain serious genetic disorders, the hospital may test for genetic markers or signs of the disease. Some of the tests are administered to some babies, but not others. For example, if the disease is specific to a racial group, like sickle cell anemia, your baby may be tested based on racial factors. Parents can also request that additional tests be conducted if they are worried about family-based predispositions for diseases like cancer or diabetes.

    Retesting

    • It is not uncommon for physicians and medical facilities to request that your infant be retested. According to the American Academy of Pediatrics, some states require follow-up testing to confirm results. Retesting may also be requested if tests were inconclusive, or if the blood sample was contaminated. Tests may also need to be rerun if initial tests indicate a possible problem. Parents can always request a consultation with the pediatric physician if test results need to be explained. The American Academy of Pediatrics suggests having retesting done as soon as possible to prevent serious problems.

    Notification

    • As soon as conclusive results are available for the genetic testing of your newborn, you will be notified if there is a problem. Often medical health facilities will retest your infant if there seems to be a problem to make sure the original tests were correct. Parents can also call facilities and physicians to check on the status of the genetic tests. Parents can request copies of all test results, as well as request that special confidentiality measures be taken to protect the family from health insurance issues.

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