Newborn Screening Can Help Prevent Problems

Importance of Newborn Screening

Photo: A woman holding baby talking to healthcare professional

Newborn babies are screened, even if they look healthy, because some medical conditions cannot be seen by just looking at the baby. Finding these conditions soon after birth can help prevent some serious problems, such as brain damage, organ damage, and even death.
For example, a test for phenylketonuria (PKU) checks if the baby's body can process phenylalanine, a normal component of protein. Phenylalanine is found in most foods and can build up in the blood and tissues 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 in life. Babies are also tested for hypothyroidism, which means that their bodies do not make enough thyroid hormone. Babies with hypothyroidism can take medication containing the hormone to avoid the slowed growth and brain damage that can happen if their condition is not detected and treated.
Even though some conditions cannot be treated as easily as PKU and hypothyroidism, it is still helpful to know about the condition as soon as possible. For example, a baby with sickle cell disease is at risk for harmful infections. These babies can take a daily dose of penicillin, an antibiotic medicine, and receive recommended vaccines to help prevent infections. Although the penicillin and vaccine will not change the fact that the baby has sickle cell disease, they can help prevent serious problems.

When and How Babies are Screened

Two types of screens are currently routinely offered for newborns, a blood test and a hearing screen. Babies that are born in a hospital should have a blood sample collected and hearing screening done before they leave the hospital. Parents should take babies that are not born in a hospital or those that were not screened before leaving the hospital to a clinic within a few days of birth to have a blood sample collected and a hearing screen performed.

Blood Test

A health professional will take a few drops of blood from the baby's heel. The blood sample is sent to a newborn screening lab for testing. In some states all babies have a second blood test done, about two weeks after birth.

Hearing Screening

Hearing screening is a brief test to tell if people might have hearing loss. Hearing screening is easy and not painful. In fact, babies are often asleep while being screened. All babies should be screened for hearing loss no later than 1 month of age. It is best if they are screened before leaving the hospital after birth.
Learn more about hearing screening.

Get Help!

If your baby's newborn screening tests show that there could be a problem, work with your baby's doctor to get any needed follow-up tests as soon as possible – don't wait!
Finding and treating some of the conditions at an early age can prevent serious problems, such as brain damage, organ damage, and even death. Many of the conditions can be treated with medication or changes to the baby's diet.
In order to make sure your baby reaches his or her full potential, it is very important to get help for any medical condition as soon as possible.

CDC's Newborn Screening Activities

Research:
- The rate of hypothyroidism found through newborn screening in the U.S. has almost doubled during the past two decades to about 1 in 2,000 live births. CDC is looking at the possible causes for this increase. [Read more]
- A recent CDC study determined the rate of low vitamin B12 (cobalamin) levels in newborns due to low B12 levels in the mother by looking at information from state newborn screening programs. Infants with low vitamin B12 levels were found at a rate of 0.88/100,000 newborns. The causes of low vitamin B12 levels in the mother include having a diet that excludes or has limited amounts of animal products, certain types of anemia, and previous gastric bypass surgery. Pregnant women should be checked for their risk of not getting or absorbing enough vitamin B12. [Read more]
- Rapid technology changes in state newborn screening labs could affect how health conditions are found and reported. A recent CDC study looked at the links between lab screening methods and criteria with rates of the newborn screening conditions congenital adrenal hyperplasia (CAH), phenylketonuria (PKU), and sickle cell disease during 1991-2000 in the US. This study found that there were no major changes in the rates of these conditions. [Read more]
- Cytomegalovirus (CMV) is the most common virus that babies are born with in the United States (1 in 150 babies). These newborns are at risk for hearing loss, vision impairment, and developmental disabilities, although most babies may never have problems due to CMV infection. Healthy babies are not routinely tested for CMV. CDC is studying different tests to screen for newborns with CMV. [Read more]
- Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy in children (1 in 3,900-6,000 live male births). Delay in diagnosis is common in DMD. DMD is not currently included in state newborn screening programs. CDC funded a DMD newborn screening study in Ohio to determine parental interest in and experiences with DMD newborn screening, to understand the effectiveness of the consent process in the birthing hospital, and to test methods for carrying out the screening process. Findings indicate broad support for DMD newborn screening among both providers and parents. [Read more]
- CDC is working to improve technology in order to find more health conditions in babies through newborn screening. CDC works with others to develop tests for these conditions and provides initial funds for state labs to begin testing. Recently, CDC helped put into practice a test for Severe Combined Immune Deficiency (SCID), better known as “Bubble Boy Disease”. SCID prevents babies from fighting infections and can cause death. Newborn babies found by the SCID test can be treated early and thus can lead a healthy life. [Read more]
Tracking:
- CDC is funding pilot projects in states to collect the same data on long-term follow-up of children with confirmed newborn screening conditions. Follow-up of children with confirmed newborn screening conditions makes sure that they receive the full benefits of early identification through newborn screening. Tracking how early identification through newborn screening affects long term outcomes for these children is also important for public health. [Read more]
- CDC is looking at how many babies born in the U.S. are screened for hearing loss and the results of this screening. A recent CDC survey found that more than 97% of newborns were screened for hearing loss. Of those babies who were screened, 1.6% did not pass the final or most recent hearing screening. Of the babies who did not pass the hearing screening, 68% received a diagnosis before age 3 months. The diagnosis was either that the baby had hearing loss or did not have hearing loss. [Read more]
Quality Assurance:
- CDC's Newborn Screening Quality Assurance Program (NSQAP) helps ensure that parents and doctors can trust the results of newborn screening tests. NSQAP works with local, state, and international labs to make sure newborn screening test results are as accurate as possible in the U.S. and in 68 countries around the world. [Read more]
- CDC, together with professional groups and other government agencies, plans to publish recommendations for good lab practices for genetic tests and newborn screening for inherited metabolic diseases. This work complements a previous effort to describe good lab practices for molecular genetic testing. [Read more]
- CDC funded the Texas Newborn Screening Performance Measures Project to develop, pilot and document successful evidence-based performance measures and assessment tools to improve patient care for newborns with disorders found through the Texas Newborn Screening Program (TNSP). The tools they developed might serve as models for newborn screening programs in other states. [Read more]
Outreach:
- CDC created patient education materials for parents on hearing screening and genetic causes of hearing loss. [Read more]