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Congenital Heart Disease Screening Recommended for Newborns


A new screening test for congenital heart disease (CHD) in newborns could identify infants at risk and save lives, according to a new report in Pediatrics. New Jersey has already decided to implement the new screening test by the end of August.

Congenital heart disease can be detected early

Congenital heart disease is a malformation or defect in one or more structures of the heart of blood vessels. These abnormalities occur during fetal development and affect 8 to 10 out of every 1,000 children.

The most common congenital heart problems include atrial and ventricular septal defects (abnormalities in the walls between the chambers of the heart), heart muscle defects that can lead to heart failure, and heart valve defects. Congenital heart disease causes more deaths during the first year of life than any other birth defect.

Many infants with congenital heart disease appear well after birth and do not exhibit signs or symptoms until after they have been released from the hospital. To identify infants with this problem early, a group of medical experts are recommending implementation of a nationwide screening test for critical congenital heart disease.

The suggested procedure, called pulse oximetry, is noninvasive and involves measuring oxygen levels in the blood. Infants who show low oxygen levels would be identified for follow-up.

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To screen infants using pulse oximetry, different wavelengths of light pass painlessly through the patients’ skin. The measurements indicate the percentage of oxygen-bound blood. Screening should be done in infants who are 24 hours or older because changes in the circulatory system immediately after birth may result in a false positive screen.

According to Alex Kemper, MD, associate professor of pediatrics at Duke University Medical Center, “screening for low-blood oxygen saturation can be an effective way to identify otherwise well-appearing babies who have undetected critical CHD.” Getting a positive result on screening, however, is only the first step.

Kemper noted that the follow-up after getting a positive screening result is a challenge because these infants will need to be evaluated by an echocardiogram, heart ultrasound, or pediatric cardiologist, services not all hospitals have available. Thus, it is important that the screening approach have a very low false positive rate, since infants may need to be transferred to other hospitals to get the follow-up they need.

The good news about the recommended screening, according to Kemper, is that it “will identify most cases but also have a false positive rate of less than 1 percent.” Questions about standards for a positive screen and how to best screen patients are still unanswered.

However, New Jersey plans to initiate the screening for congenital heart disease on August 31 for all infants before they are discharged from hospital. Kemper noted that “this will be a great opportunity for other states to learn how to begin screening on a wide scale.”

Kemper AR et al. Pediatrics 2011; doi:10.1542/peds.2011-1317

Picture credit: Wikimedia Commons