Universal Newborn Screening for Congenital Heart Disease

The Issue

Even a pediatric cardiologist can miss congenital heart disease (CHD) in a newborn (Hoffman, 2011). Do the rest of us even stand a chance? Every day in America, newborns with critical CHD are discharged from hospitals as healthy newborns, only to return via the emergency room when they become symptomatic at home, with poor feeding, cyanosis, apnea, shock, and heart failure. Some of these babies die before they reach the hospital.

We already have a simple, noninvasive way to rule out CHD in the newborn, and it is something we use every day: pulse oximetry. So why isn't it being used to screen for CHD? The usual reasons are: "it's not reliable, physical exam (or fetal ultrasound) can detect CHD, it will result in too many unnecessary cardiac evaluations, it will upset the parents, or it will cost too much." Pulse oximetry, however, is more reliable than a physical examination alone, and it produces fewer false positives (identifying as positive newborns who don't really have CHD) Fetal ultrasound and physical exam will each miss about half of infants with CHD. And most people believe that the benefits of identifying and managing CHD before neurological damage or death occurs far outweigh the costs.

Not all CHD is critical. Many defects are mild and may not even require treatment. But others--known as ductal-dependent lesions--can result in death when the newborn's ductus arteriosus closes, unless these defects are identified and treated. Roughly 30% of newborns with critical CHD leave the hospital with undiagnosed defects, including (among others) coarctation of the aorta, interrupted aortic arch, aortic stenosis, transposition of the great arteries, and hypoplastic left heart syndrome.

The Method

Elizabeth Bradshaw, MSN RN CPN, is the coordinator for the Congenital Heart Disease Screening Program at Children's National Medical Center in Washington, DC. According to Bradshaw, the most sensitive and specific method for screening newborns for CHD with pulse oximetry is the method tested by de Wahl Granelli and colleagues (2009). This involves measuring preductal (right hand) and postductal (foot) pulse oxygen saturation (SpO₂) levels in quiet newborns after 24 hours of age. If both pre- and post-ductal SpO₂ values are <95%, or if the difference between the two values is >3%, the infant is considered positive. A repeat measurement and, if warranted, a cardiac evaluation are then performed. When tested in almost 40,000 newborns in Sweden, a positive SpO₂ screening result by this method gave a relative risk of 719.8 (95% confidence interval 350.3 to 1479; p < 0.0001) of having duct-dependent heart disease, and 92% of infants with critical CHD were detected prior to discharge from the hospital. The false positive rate was very low: 0.17%.

The Recommendation

The Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC), part of the Department of Health and Human Services, is the group that makes recommendations on newborn screening in the United States. In October 2010, the ACHDNC recommended that pulse oximetry screening for critical CHD be added to the uniform screening panel. The ACHDNC also recommended further study on the technology, screening protocols, follow-up, infrastructure, and education related to universal CHD screening.

This recommendation is not a law, so it is up to the individual states to consider mandating screening for CHD. Thus far, only two states (Maryland and New Jersey) have passed legislation requiring CHD screening. Several other states (Indiana, Minnesota, Missouri, and Tennessee) have introduced legislation to add CHD to their newborn screening panels.

The Opportunity

Nurses who support the screening of all newborn infants for CHD have an advocacy opportunity. If you live in one of the states that has already introduced legislation, contact your state elected officials and ask them to vote for this legislation. If your state has not yet taken this step, write to your state's elected officials and tell them of your concern about the problem of newborn infants being discharged with undiagnosed CHD, and ask them to create legislation to mandate screening for CHD in your state. Tell them of newborn infants you have cared for who were readmitted to the hospital after becoming critically ill at home.

Hospitals can take advantage of an educational toolkit developed by the Congenital Heart Disease Screening Program of the Children's National Medical Center (www.childrensnational.org/PulseOx/) for distribution to organizations interested in implementing pulse oximetry screening as a standard of care in their nurseries by e-mailing This e-mail address is being protected from spambots. You need JavaScript enabled to view it .

References

Advisory Committee on Heritable Disorders in Newborns and Children. (2010, October 15). Letter to the Secretary of the U.S. Department of Health and Human Services. Retrieved April 25, 2011, from www.hrsa.gov/heritabledisorderscommittee/correspondence/October15th2010letter.htm.

de-Wahl Granelli A., Wennergren M., Sandberg K., Mellander, M., Bejlum, C., Inganäs, L., et al. (2009). Impact of pulse oximetry screening on the detection of duct dependent congenital heart disease: A Swedish prospective screening study in 39,821 newborns. British Medical Journal, 338, a3037; PMID: 19131383;doi:10.1136/bmj.a3037.

Hoffman J. I. E. (2011). It's time for routine neonatal screening by pulse oximetry. Neonatology. 99, 1-9.

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