(CNN) – It’s time for Newborn Screening Awareness Month, which is designated to get the word out to new or expectant parents about the importance of having their new babies screened for serious illnesses.
Even if a baby is born healthy, certain conditions can develop later in infancy that may affect a child’s long-term health. These tests can identify issues before they become major problems.
“Newborn screenings actually started in the ‘60s, when newborn babies were screened for phenylketonuria or PKU, (a metabolic condition that can damage the brain),” said Dr. Toni Thompson, a board certified pediatrician and director of TLC Pediatrics of Bowie, Md. “The screenings became so successful, hospitals and state public health departments, decided to test for more conditions.”
Each year, millions of babies in the US are routinely screened for specific genetic, endocrine, and metabolic disorders, such as sickle cell and PKU. Using a few drops of blood from the newborn’s heel, the tests are usually done before the baby goes home from the hospital. They range from hearing tests to jaundice detection. Each state varies on which tests are given.
“In some cases,” Thompson continued,” hospitals will send the baby’s blood out to labs in other states to make sure the baby is tested for all conditions. If a parent wants more tests, they can ask for them. Some are covered by the state. Others, such as certain genetic tests, like for cystic fibrosis, will need to be paid for by insurance. But many parents don’t care. They want the test done to bring them peace of mind.”
According to the Department of Health and Human Resources, in most states, before heading home, babies should be screened for tests that fall under these five categories:
- Amino acid metabolism disorders – These are a group of disorders that vary in severity. Some affected babies lack enzymes needed to break down building blocks of proteins in the body called amino acids. Other infants have deficiencies in enzymes that help the body get rid of nitrogen found in amino acid molecules.
- Organic acid metabolism disorders – The diseases in this group are inherited disorders and are caused by a lack of enzymes that break down amino acids, fats, sugars and steroids. Without proper treatment these disorders can cause coma, even death in the first month of life of a baby.
- Fatty acid oxidation disorders – These disorders are caused by inherited defects of enzymes needed to turn fat into energy. Babies with these disorders suffer from a loss of energy, because their bodies run out of sugar which keeps them going.
- Hemoglobinopathies – These are inherited diseases of the red blood cells that can cause anemia (shortage of red blood cells), serious infections, pain and damage to vital organs.
- Others – “Babies should also be screened for hearing loss. Doctors will administer a BAER test, that evaluates the nerves in the baby’s ears. It’s very simple and gives us an accurate reading on possible hearing defects,” notes Thompson.
