Over four million babies are born in the United States each year. Thankfully, most of these newborns have no medical problems and will be healthy.

However, very rarely, some babies are born with serious medical conditions that can only be detected by a simple blood test. Newborn screening is a program in which babies have a small amount of blood sent to the state public health department to test for these serious health problems.

Alex Kemper, MD, MHS, MS, of Duke Children’s Primary Care explains why we screen newborns.

--Dennis Clements, MD, PhD

Alex R. Kemper, MD, MPH, MS

What medical conditions are included in newborn screening?

All of the conditions included in newborn screening require treatment before the baby has any symptoms.

Newborn screening began in the 1950s with testing for phenylketonuria (PKU). Now newborn screening includes more than 29 recommended conditions, including congenital hypothyroidism, sickle cell disease, and cystic fibrosis.

Newborn screening has recently expanded to also include testing for hearing impairment.

What do I have to do to make sure that my baby is screened and how do I get the results?

All babies in North Carolina are routinely screened. You do not have to sign any forms to make sure that your baby is screened.

Screening does not depend on your ability to pay for it. However, it is important to make sure that your baby was tested before you go home from the hospital.

The results from the hearing screening will be available before you leave. The blood test results are not usually ready for about one week.

Although your pediatrician should receive information about the results of the test, we think that it is a good idea for you to also check. Sometimes the state public health laboratory will contact families directly if the newborn screening test is positive.

What about testing for conditions that are not included on newborn screening?

There are some differences across states in the conditions that are included in newborn screening. We recommend that you talk with your baby’s pediatrician if you have questions about supplemental testing.

North Carolina tests for all of the conditions currently recommended by the federal Department of Health and Human Services.

What should I do if my baby has a positive newborn screen?

A positive newborn screen does not mean that your baby has one of the conditions. However, it does mean that your baby needs close follow-up testing to make sure that there is no problem.

Depending on the condition that you baby had a positive screen for, testing may involve simply sending another newborn screening sample to the state public health laboratory or ordering more specialized tests.

Sometimes your pediatrician may recommend a specific baby formula while waiting for the follow-up testing to be completed. Having a positive newborn screening test can be very stressful. However, the good news is that treatments are available for the conditions included in newborn screening.

Although false positive newborn screens are not uncommon, it is important that you have follow-up testing.

What do I do if my baby is diagnosed with one of the conditions through newborn screening?

Of course, the care that your child receives will depend on the exact condition. Regardless of the condition, it is important that you have a medical home for your child.

A medical home is a primary care clinic that knows you and your family, that can coordinate all of the care that your child needs, that can partner with you to monitor the growth and development of your child, and that can help your child reach his or her potential as an adult.

Duke Children’s Primary Care has many services available to provide a comprehensive medical home for children with special health care needs.

What newborn screening research is happening at Duke?

Researchers at Duke University have led the development of many of the tests included in newborn screening and are developing exciting new tests and treatments, which promise to expand newborn screening further.

Researchers at Duke are also involved with developing the health policy necessary for newborn screening to be effective.

-- Alex R. Kemper, MD, MPH, MS, is a physician with Duke Children's Primary Care.

-- Dennis Clements, MD, PhD, is the chief of primary care pediatrics at Duke Children's Hospital.