A newborn baby’s first test is a heel stick to draw a few drops of blood. Those drops offer powerful clues to the baby’s future health.
For parents, those few drops can help prevent a great deal of anguish. Blood tests done in the first few days of an infant’s life can help detect some types of mental retardation and disability that can be prevented if detected early. They are the only way to tell if a seemingly healthy baby has one of many rare but potentially serious conditions.
While most babies are born healthy, a few are born with diseases that, if left untreated, can lower intelligence and cause illnesses — or even death. This is why Montana, along with every other state, has a newborn-screening program.
When a baby is between 24 and 48 hours old, a few drops of blood are drawn from the heel. The blood is allowed to dry on a special piece of paper and goes to the state lab for testing.
If the test is done before the baby is 24 hours old, there is a chance one of the conditions could be missed, so the test should be repeated after the baby is 48 hours old.
Guidelines recommend that the test be done within the first week of life, because some conditions can cause death within five days. Many hospitals and clinics are set up to do these critical tests. So, if the baby is born at home, or needs to repeat the test, a doctor can tell you where to get the test done.
In Montana, newborns are checked for 29 conditions. Those include metabolic, hormonal and blood disorders. The state also requires checks for congenital hearing loss. One in 735 babies screened in 2008 was treated for one of those conditions.
The two most common conditions were congenital hypothyroidism and cystic fibrosis. Congenital hypothyroidism is a disorder in which a baby doesn’t make enough thyroid hormone, a condition that causes poor growth and brain damage.
Cystic fibrosis causes thick, sticky mucus to build up in the lungs and other organs, and can cause poor growth and infections. Most of the disorders pinpointed by the test can be treated with medication or special diets.
The heel stick test results are sent to your doctor. Normal results mean the baby almost certainly does not have any of the diseases covered by the test. A screening test cannot confirm or rule out a particular condition, so if the results are abnormal, it does not necessarily mean that the baby has that condition. It does mean that further testing is needed. If the test is positive and the baby is diagnosed with one of the disorders, a referral is made to a specialist.
Newborn screening is important to detect disorders that, with treatment, can allow babies to grow into adults able to lead fairly normal lives. If detection is delayed, it can lead to permanent disability, lowered intelligence and lower quality of life.
September is newborn screening month. For more information on which conditions are screened for, how to have testing or follow-up testing, or other questions, talk to your doctor or visit the Montana Department of Public Health and Human Services website at www.dphhs.mt.gov and search for newborn screening.
Dr. Larissa Sanger is a resident physician with the Montana Family Medicine Residency at RiverStone Health. She can be reached at 247-3306.