lunes, 10 de septiembre de 2012

CDC Features - Newborn Screening Can Help Prevent Problems

CDC Features - Newborn Screening Can Help Prevent Problems

Newborn Screening Can Help Prevent Problems

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.
Learn more about newborn screening and why it’s important >>

Kristine’s Story

Tips for Parents

“After a healthy and normal pregnancy, I gave birth to my daughter, Cora, on November 30, 2009. Two days later we took her home, after getting a clean bill of health at the hospital. The next 3 days were spent cuddling, getting to know each other, and waking every few hours to feed her.
“One early morning my husband handed Cora over to me because she seemed hungry. I started to feed her and everything was going great. I looked up at my husband to tell him I loved him. When I looked back down, Cora was pale, gray, and not breathing. We raced to the hospital, which was no more than 5 minutes away, but it was too late. Cora was gone. We learned from the coroner that she had an undetected congenital heart defect. Neither of us had ever even heard the term.
 Kristine and Cora“We later learned about a type of screening―pulse oximetry―that might have helped identify Cora’s heart defect before it was too late. While we’ll never know for sure if it would have made a difference for Cora, we sure wish she’d had the simple screening. Cora’s story is extremely sad, but it’s also full of hope. In Indiana, where we live, a new law requiring newborn heart screening with pulse oximetry is named after her and is known as Cora’s Law.
“As for now, I hope for a day when no mother finds out about her child’s heart defect from a coroner. I hope that undetected congenital heart disease becomes a thing of the past. And, ultimately, I hope that one day congenital heart disease can be prevented and that no baby is born with a broken heart.”

CDC would like to thank Kristine for sharing this personal story.

New Conditions Tested

The following conditions were recently added to newborn screening tests:

Critical Congenital Heart Defects

Like Cora, babies with a critical congenital heart defect (CCHD) are at significant risk of disability or death if their condition is not diagnosed soon after birth. Pulse oximetry is a simple bedside test to determine the amount of oxygen in a baby’s blood. Low levels of oxygen in the blood can be a sign of a CCHD. Newborn screening using pulse oximetry can identify some infants with a CCHD before they show signs of the condition. Once identified, babies with a CCHD can be seen by cardiologists (doctors that know a lot about the heart) and can receive special care and treatment that can prevent disability and death early in life.
As screening for critical congenital heart defects (CCHDs) is carried out across the U.S., CDC will play an important role in tracking babies with a CCHD identified through CCHD screening. Assessing how well CCHD screening works will help states and health care providers better understand the possible impact of CCHD screening. This information will be important for states making decisions about adding this condition to their existing newborn screening programs.

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 “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 have a better chance for a healthy life


CDC assists states with tracking certain conditions identified through newborn screening. When a child is identified with a condition soon after birth, families and professionals can make sure the child gets timely follow-up testing and intervention services at an early age.  This information also helps health departments, service providers and early intervention programs to estimate case loads, plan for services, and advocate for needed resources.

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 result in sudden death.  CDC funds 7 states to monitor trends and characteristics associated with SUID through its SUID Case Registry. For each SUID, newborn screening results will be reviewed, as well as information from death scene investigations, autopsies, and medical records.

Long-Term Follow-Up

CDC funded pilot projects in 4 states to collect data on long-term follow-up of children with confirmed newborn screening conditions. Follow-up of these children makes sure that they receive the full benefits of early identification through newborn screening. Tracking health outcomes for these children is also important for public health to understand ways to help children with newborn screening conditions lead healthier lives and prevent complications.

Second Testing

Routine second testing of newborns for the conditions detected through the newborn screening blood test occurs in 12 states. Opinions differ as to whether routine second testing is the most appropriate public health approach to detect cases that might otherwise be missed by a single newborn screening test. So CDC is studying differences between children with certain newborn screening conditions found in states with and without second screening.


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

Cytomegalovirus (CMV)

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 do not appear to be harmed by CMV infection. CDC is developing tests that could be used to screen newborns for CMV.

Duchenne Muscular Dystrophy (DMD)

DMD is the most common muscular dystrophy in children (1 in 3,900-6,000 male live births). CDC funded a DMD newborn screening studyExternal Web Site Icon to test a new method for DMD screening. CDC also plans to assess parents’ experiences with the screening to help understand the impact of screening on families.

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 U.S. and in 68 countries around the world.


CDC, together with professional groups and other government agencies, published recommendations for good lab practices for biochemical testing and newborn screening for inherited metabolic diseases. This work complements a previous effort to describe good lab practices for molecular genetic testing.

Screening Tools

CDC funded the Texas Newborn Screening Performance Measures ProjectExternal Web Site Icon 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.

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