Three Required Newborn Tests
New Babies are Checked For Hypothyroidism, PKU, and Galactosemia
Newborns are tested for a variety of medical conditions after birth. Testing varies from state to state, but your baby will be automatically tested for three conditions.
Early testing helps ensure that your newborn gets appropriate attention and care if there are concerns. In earlier generations, the medical community waited until problems surfaced and then addressed those. Today, your baby will be checked before leaving the hospital. This gives your little one a better chance for a good life.
Your doctor may or may not mention required newborn tests. If you have questions, be sure to ask about the tests administered. Your physician can explain tests and procedures and often will provide additional written materials to help you understand the various tests.
Three tests that are routine and required include screenings for hypothyroidism, PKU, and galactosemia. These are in addition to the basic Apgar test immediately following birth. If you’re not familiar with these conditions or disorders, here are the basics.
Hypothyroidism
Congenital hypothyroidism is the most common newborn hormonal disorder occurring in one of every 3000 to 4000 infants. Hypothyroidism is a thyroid deficiency that impacts on brain development. Most commonly, the thyroid gland is absent or underdeveloped. The condition is difficult to identify at birth, and a blood test is used to detect problems.
If untreated, hypothyroidism results in slow growth and mental delay and ultimately mental retardation. With treatment, outcomes are generally good. Most infants identified at birth as having congenital hypothyroidism and receiving treatment during the first month develop normally.
PKU
PKU is a fairly rare disorder found in 1 in 15,000 newborns globally. Since the condition is genetic, rates vary widely by populations groups. For instance, the disorder is detected at a rate of 1 in 4,500 in Ireland. In the United States, the rate is 1 newborn in 25,000.
Phenylketonuria (PKU) is a recessive genetic disorder. An enzyme needed to metabolize amino acids is deficient. This problem is detected by doing a urine test.
If undetected and untreated, PKU can lead to mental retardation and seizures. Although there is no cure for PKU, it can be controlled by diet. If your baby tests positive for PKU, your pediatrician or a specialist (in conjunction with a nutritionist) will coordinate a diet plan for your baby.
Galactosemia
Galactosemia is an inherited disorder with a rate of around 1 of every 7,500 live births. Both parents must carry the gene for a baby to inherit galactosemia. Babies born to carriers of the gene have a 25% chance of suffering from galactosemia and a 50% chance of being a carrier.
An infant with galactosemia is unable to break down the sugars found in milk and milk products. If undetected, newborns experience vomiting, liver disease, and mental retardation. Providing a milk-free diet under the supervision of a specialist can prevent problems associated with this medical condition.
Future Testing for Newborns
The medical community can test for a variety of newborn health problems. Currently testing is determined at the state level with different screening procedures in different communities. You can check your state laws or with your local hospital to determine the tests administered by state law in your area. You can, of course, request additional screening tests.
The American Academy of Pediatrics (AAP) is currently lobbying for systematic newborn screening nationwide. The organization has identified 29 conditions that should be part of routine newborn screening and an additional 25 conditions that should be considered as identified by the American College of Medical Genetics (ACMG).
