Newborn screening: A simple test could save your baby’s life

Every parent wants their child to be healthy and happy. When it comes to newborns, the most important thing is to detect any health problem as soon as possible so it can be corrected. We are fortunate — Minnesota has one of the best and most comprehensive newborn baby health screening programs in the world.

Newborn screening is extremely important. The key is to test for genetic diseases and hearing and heart conditions as soon as possible. If treatment is available, it can be initiated immediately. This often means treating before symptoms are present, preventing many problems. This will keep your child happy and healthy.

When you arrive at the hospital, you will be asked if you want newborn screening. There is simple paperwork to sign to make sure newborn screening is done. If for some reason you are not asked about it, be sure to tell your doctor that you want newborn screening.

Newborn screening involves a small heel prick. Then a few drops of blood are placed on a special paper card and sent to the Minnesota Department of Health for screening.

A separate heart and hearing test may also be performed.

The Minnesota Department of Health currently tests for over 65 different genetic and metabolic diseases.

The newborn screening is usually performed in the first 24-36 hours after birth. The key is to find out as early as possible if the child has a marker for a potential genetic or metabolic disease that can be treated early so that no long-term complications occur.

Positive test results

What if the test is positive for one of the genetic or metabolic conditions? Parents, don’t worry yet.

In Minnesota, there are approximately 70,000 births per year. Only about 700 (approximately one percent) of these come back with a positive test result. Remember, these are only screening tests and are not a substitute for a specific diagnosis.

If the screening test is positive, the doctor will perform more sensitive and specific tests to establish the diagnosis. The good news is that of the 700 screening tests that come back positive, only about 140 (approximately 20 percent) actually have a diagnostic disease. Nevertheless, to detect these types of diseases early is crucial to intervene early and start an effective treatment.

Some of the conditions, if untreated, can be lethal. Other genetic diseases may not have cures, but significant treatments can be initiated to better manage the condition. For any positively established disease, the parents will meet with both their doctor and a genetic counselor to discuss the implications of the positive test and to formulate a treatment plan moving forward. Remember, knowledge is power.

Specific tests

There are several devastating diseases that can be hidden at the time of birth. Many of these diseases, if undetected, can have a devastating effect on the baby if not corrected. One example of such a disease is phenylketonuria (PKU).

PKU is a disease in which the body is unable to break down a certain building block of protein (a specific amino acid) known as phenylalanine. Because there is a defect in the enzyme that breaks this amino acid down, it builds up in the body, damages the nerves and brain, and can cause mental retardation.

On the other hand, if PKU is identified with newborn screening, the child can be placed on a special diet low in phenylalanine and live a healthy, happy life. This is just one example. Currently in Minnesota, there are over 65 conditions tested for.

Other examples of conditions identified with newborn screening include but are not limited to:

• cystic fibrosis
• congenital hypothyroidism
• congenital adrenal hyperplasia
• congenital deafness

There is nothing more devastating than learning, years later, that a child may have a debilitating or even deadly disease that could have been detected and treated with newborn screening. Newborn screening can actually save a child’s life. The test is simple and fast.

If you are the parents of a new baby soon to arrive, talk to your doctor about newborn screening. There is no reason not to have newborn screening done for your baby. You will sleep well knowing that you have done the best you can for your baby.

For additional information, visit www.savebabies.org.

Charles E. Crutchfield III, MD is a board certified dermatologist and Clinical Professor of Dermatology at the University of Minnesota Medical School. He also has a private practice in Eagan, MN. He received his M.D. and Master’s Degree in Molecular Biology and Genomics from the Mayo Clinic. He has been selected as one of the top 10 dermatologists in the United States by Black Enterprise magazine. Dr. Crutchfield was recognized by Minnesota Medicine as one of the 100 Most Influential Healthcare Leaders in Minnesota. He is the team dermatologist for the Minnesota Twins, Vikings, Timberwolves, Wild and Lynx. Dr. Crutchfield is an active member of both the American and National Medical Associations.