What is Newborn Screening and What Does it Mean for Your Baby?

In the old days you could go home with what you thought was a healthy baby, only to discover later that something is wrong. Some disabilities and ailments aren’t noticeable at birth but can present themselves later, as the child grows. Nowadays they have a health screening process for newborns which helps to detect some problems that might otherwise progress to become serious issues. And, if a serious health issue is found to exist, treatment can be administered right away, rather than waiting until much later when the disease or ailment may become critical.

An example of a disease that could become worse without immediate treatment is PKU, or phenylketonuria. Kids born with this disorder can be immediately put on a special diet and can often lead a normal life, but kids that aren’t treated can become mentally retarded as they get older. That’s because they lack an enzyme that processes amino acid called phenylalanine. If too much of the enzyme builds up brain tissue can be damaged, causing retardation.

The screening process is simply a blood test which is then screened for metabolic and other inherited disorders. Early diagnosis can make a difference between life and death for some children, but most newborns are found to be perfectly fine. The diseases that are screened can vary from state to state, with some states offering testing for as many as 30 different ailments, but other states offering only four to twelve.

In many states, the baby health screening is mandatory, but in others, it’s optional. If you live in a state that has the optional screening, request the testing to be done before taking baby home. The tests usually involve a simple pin-prick on the heel. Some of the diseases they’ll check for include, depending upon the state in which you live, PKU, congenital hypothyroidism, galactosemia, sickle cell disease, biotinidase deficiency, congenital adrenal hyperplasia, homocystinuria, tyrosinemia, and cystic fibrosis.

If you have a family history of a particular type of inheritable disease, have given birth previously to a child that developed mental retardation, know of a family member who has had a baby that died from a childhood disease, or you think your baby could be at risk for other particular diseases, talk to your doctor about additional screening.

The tests will come back to your doctor, or your hospital, but don’t panic if your baby has tested abnormally in any area. The screening process is just a way to get preliminary information and should be followed up by more specific tests to determine if there actually is a problem. If there is, your doctor may recommend a specialist who can further assist the baby. In some cases, medication or dietary changes is the only thing necessary to correct the problem.

We all want our babies to be as happy and healthy as possible, so be sure and request this screening for your baby, if your state doesn’t require it. Costs vary for the blood test but it’s well worth any price to insure the health of your newborn.