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Newborn Screening: Saving Lives for 50 Years

Soon after birth, all babies born in the United States are checked for certain medical conditions. This is called newborn screening. All babies are screened, even if they look healthy, because some medical conditions are not identified 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. If your baby's doctor doesn't tell you about your baby's newborn screening results, ask for them! And 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!

What is CDC doing about newborn screening?


New Conditions Screened

The following conditions were recently added to newborn screening:

Critical Congenital Heart Defects
Babies with critical congenital heart defects (CCHD) have serious heart defects that need surgery or other procedures within the first year of life. Newborn screening can find some of these babies so they can get care and treatment that can help prevent disability or early death. CCHD screening has begun in some states, and laws requiring this screening have been proposed or passed in other states. CDC is helping states implement the screening and report screening results. CDC is also helping states and hospitals to better understand how much hospitals spend for each baby screened. CDC promotes collaboration between birth defects tracking programs and newborn screening programs for CCHD screening activities. State birth defects programs collect data on CCHD and could help evaluate the effectiveness of screening.

Severe Combined Immune Deficiency (SCID)
Recently, CDC helped put into practice a newborn screening blood test for Severe Combined Immune Deficiency (SCID), better known as the "Bubble Boy Disease." Babies with SCID might die young because their bodies can't fight off infections. Newborn babies found by the SCID test can be treated early and thus can have a better chance for a healthy life.

Tracking

CDC assists states with tracking certain conditions identified through newborn screening.

Hearing Loss
CDC's Early Hearing Detection and Intervention (EHDI) Program works with states and territories to ensure that infants are screened for hearing loss no later than one month of age; infants who do not pass the screening for hearing loss get a full hearing evaluation no later than 3 months of age; and infants with a hearing loss receive intervention services no later than 6 months of age.

Sudden Unexpected Infant Deaths (SUID)
Certain newborn screening conditions can cause sudden infant death. CDC funds 7 states to monitor trends and characteristics associated with SUID through its SUID Case Registry. For each SUID, newborn screening results are reviewed, as well as information from death scene investigations, autopsies, and medical records.

Long-Term Tracking of Children with Newborn Screening Disorders
CDC funded projects in 4 states to collect data on health outcomes through age 3 in children with confirmed newborn screening disorders. Tracking these children makes sure that they receive the full benefits of being found early through newborn screening. The role of public health in following these children is important for understanding their health outcomes over time and their resource use.

Second Testing for Newborn Screening Blood Test
Twelve states routinely perform a second newborn screening blood test about 2 weeks after the first test. Opinions differ as to whether testing a second time is the best approach to detect cases that might otherwise be missed by a single newborn screening test. CDC is studying differences between children with certain newborn screening conditions found in states with and without the second routine screening blood test.

Research

Certain conditions are not routinely screened for at birth. CDC is conducting research to learn more about screening for these conditions and to improve current screens.

Cytomegalovirus (CMV)
CMV is the most common virus that babies are born with in the United States (1 in 150 babies). Although most babies do not appear to be harmed by CMV infection, some infected newborns will have hearing loss, vision impairment, and developmental disabilities. CDC is developing tests that could be used to screen newborns for CMV.

Pompe Disease
Pompe disease is a disorder in which a certain type of protein in the body, called an enzyme, does not work properly or is missing. Pompe disease can cause disability or death in early childhood. Treatment is available that can replace the affected enzyme. CDC helps newborn screening labs test for this condition. In May 2013, a federal advisory committee recommended adding Pompe disease to the group of conditions that should be included in the newborn screen (Recommended Uniform Screening Panel). The recommendation has not yet been approved by the Secretary of Health and Human Services.

Fragile X Syndrome
Fragile X syndrome (FXS) is the most common known cause of inherited intellectual disability. CDC and others are working to study ways to screen for fragile X syndrome as part of newborn screening.

Quality Assurance

Newborn Screening Quality Assurance Program (NSQAP)
NSQAP works with local, state, and international labs to make sure newborn screening test results are as accurate as possible in the United States and in about 70 countries around the world.

Education and Outreach

Family Stories

In this Flickr album, families with children affected by newborn screening disorders share their stories. Learn what it’s like to have a child with a newborn screening condition and how these conditions have affected families’ lives.

CDC has created videos, podcasts, and Flickr photo albums highlighting different parts of newborn screening.

Podcast: CDC's Newborn Screening Program – Role of Laboratories
In this podcast, Dr. Carla Cuthbert talks about CDC's Newborn Screening Quality Assurance Program (NSQAP) and the role laboratories play in newborn screening.

Flickr Albums on Newborn Screening
Public Health Stories
Meet some of the people behind newborn screening at CDC in this Flickr album.

CDC Expert Commentary on Medscape: Videos on Newborn Screening
The Critical Importance of Newborn Screening and Follow-up
Watch this Medscape video to learn about congenital hypothyroidism and the importance of newborn screening.

Screening Newborns for Critical Congenital Heart Disease
Watch this Medscape video to learn what primary care providers should know about newborn screening for critical congenital heart defects

  • Page last reviewed: September 16, 2013
  • Page last updated: September 16, 2013
  • Content source:
    • Office of the Associate Director for Communication, Digital Media Branch, Division of Public Affairs
    • Page maintained by: Office of the Associate Director for Communication, Digital Media Branch, Division of Public Affairs
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