Your Baby’s First Tests

Your Baby’s First Test

By:  Sarah Prescott

When awaiting a new bundle of joy, parents are eager to finally hear the doctor pronounce the arrival of a healthy baby.  An Apgar Score is given to a newborn to quickly assess their physical condition and health.  However, there is another test that each newborn will undergo that is critical to discovering what may be hidden from plain sight and be crucial to their future development.  This test is known as the Newborn Screening Test and it is required in Idaho to be done on all newborns.  It is responsible for identifying a range of genetic and inherited health conditions that can lead to a myriad of developmental delays and potentially even death.1 Even though these conditions are rare, it is important to identify them as soon as possible so that any necessary treatment can begin immediately.

The Newborn Screening Test scans for 47 such conditions.  In Idaho, 1 in every 1,000 babies is born with one of these rare genetic conditions that could in some cases could be fatal.2   The test is done in two parts, with the first blood sample taken from a small pinprick to the baby’s heel being done at 1-2 days old, and the second sample being taken at 10 to 14 days old.  The sample is obtained in the Hospital where the baby is born or the Pediatrician’s office and sent out to a Lab in Oregon for testing.  A blood sample can also be obtained at the Boundary Community Hospital Outpatient Laboratory and sent in to the Oregon Lab if the parent has been given the proper testing materials to bring in with them to the Lab.

The results of these tests are sent to the baby’s Pediatrician who will then notify the parent of any findings.  It is scary for a parent to receive such a call and get the news that their child has a genetic condition or defect that may change the course of their life.  It is best though to receive this call as soon as possible so that a proper diet can be started for an amino acid deficiency disorder or medication taken to prevent slow growth due to Congenital Hypothyroidism.  Without the results of the Newborn Screening some of these conditions may lead to the loss of a child, or not knowing that there is an issue until irreversible developmental delays are observed.  The conditions identified by the Newborn Screening Test usually mean a great deal of education and understanding along with a treatment plan that will be lifelong.  A Pediatrician or Specialist will help parents navigate decisions and treatment plans regarding any of these identified conditions.

As the mother of a child who tested positive for one such rare condition, I can speak to the stress and uncertainty that comes along with a positive diagnosis.   I can also speak to the strong sense of gratitude I have for the Newborn Screening Program and the fact that had my child’s condition not been identified at 2 weeks of age they might not have the same quality of life that they do today.  If you are expecting a child or planning to become pregnant, it is important to know what to expect regarding the Newborn Screening Test and the important role it plays in the lives of Idaho families.