The importance of newborn screening

dr-coleen-boyleToday’s guest post is written by Coleen A. Boyle, PhD, MS. Dr. Boyle is the director of CDC’s National Center on Birth Defects and Developmental Disabilities. The center’s work focuses on protecting people who are especially vulnerable to health risks – babies, children, people with blood disorders, and people with disabilities.


The nursery is decorated, the car seat is ready, and you can’t wait to bring your new baby home. But before your newborn baby comes home, he or she will need some important screening done at the hospital. This screening is called newborn screening and includes a blood test, hearing screening, and, in some hospitals, screening for critical congenital heart defects. Newborn screening is important because even if your baby looks healthy, some medical conditions can’t be seen just by looking. If your baby was not born in a hospital or was not screened before leaving the hospital, take your baby to the doctor’s office or hospital to be screened as soon as possible.

Just as important as the screening is making sure your baby’s doctor gets the results. If your baby’s doctor doesn’t tell you about your baby’s newborn screening results, ask for them!

If your baby fails any of the screening tests, make sure that he or she gets any additional tests or necessary treatments right away – don’t wait! Talk to your baby’s doctor to find out what is needed.

A failed screen means your baby’s results showed signs of having a condition in the screening. This doesn’t always mean that your baby has the condition. It may just mean that more testing is needed. It might seem scary that your baby could have a medical condition, but finding these conditions soon after birth can help prevent serious problems, including brain damage, organ damage, and even death.

Sometimes, all that is needed is a change in your baby’s diet. For example, babies with phenylketonuria (PKU) cannot process phenylalanine well. Phenylalanine is found in many protein-rich foods and some sweeteners and can build up in the body of a baby with PKU, resulting in brain damage. This can be prevented if a baby with PKU is put on a special diet early.

For other conditions, your baby might need to take medicine. Babies with hypothyroidism do not make enough thyroid hormone and without treatment can have slowed growth and brain damage. Taking thyroid hormone medication shortly after birth can prevent these problems.

Although treatments for some conditions are more complicated, it is still helpful to know about the condition early. A baby with sickle cell disease is at risk for harmful infections. Identifying these babies right away means that they can receive a daily dose of penicillin, an antibiotic medicine, to help avoid infections and prevent serious problems.

Some hospitals have started screening for critical congenital heart defects. Some babies born with a heart defect can appear healthy at first and go home with their families before their heart defect is detected. These babies risk having serious complications within the first days of life and often require emergency care. Newborn screening can identify some of these babies so they can be seen by heart specialists and receive care and treatment that can prevent disability and death early in life.

Remember:
• Ask for your baby’s newborn screening results.
• If your baby fails the screening tests, get additional tests or necessary treatments right away – don’t wait!

Take a look at the CDC’s newborn screening Flickr album with several interesting personal stories.

2 Responses to “The importance of newborn screening”

  1. Kevin Alexander Says:

    As an adult living with PKU I am obviously affected by newborn screening. I cannot begin to imagine what my life would have been like had I not been diagnosed just a few days after birth. I’ve had the great honor these last few months to speak with newborn screening researchers and officials, with representatives from PerkinElmer, APHL, and even joined the International Society of Neonatal Screening. A huge thank you is in order for everyone who has made our lives possible. Newborn screening definitely saved my life!

  2. Coleen Boyle Says:

    Kevin: Thank you for sharing your story here and on CDCgov’s Facebook page. Wishing you well in YOUR work, talking about the importance of newborn screening.

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