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  1. Heavey, Elizabeth PhD, RN, CNM

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My state has a mandate for critical congenital heart defect (CCHD) screening in newborns. Can you explain this procedure and why it's indicated?-L.M., N.J.

 

Elizabeth Heavey, PhD, RN, CNM, replies: CCHDs are serious congenital heart disorders that require surgery or catheter-based interventions in the first year of life.1 Examples include coarctation of the aorta, tetralogy of Fallot, and pulmonary atresia.2 According to the American Academy of Pediatrics, 18 out of 10,000 infants are born with a CCHD.3

 

CCHD may be detected prenatally via ultrasound or during a neonatal physical exam. Even with prenatal diagnosis being possible, many cases remain undetected until after delivery. Further, approximately 25% of infants with CCHD are discharged home without detection, resulting in 70 to 100 preventable infant deaths each year.4,5 Simple, noninvasive pulse oximetry screening of newborns can identify infants with CCHD or with noncardiac causes of hypoxemia before discharge.1

 

In 2011, the US Recommended Uniform Screening Panel was amended to include screening for CCHD, although individual states determine how to implement the procedure.6,7 As of 2016, 48 states had policies or recommendations for CCHD screening, though not all are mandatory.5

 

As a component of routine newborn screening, CCHD screening does not require specific consent, but parents should be informed that screening is to occur.3 Explain that early screening before hospital discharge is intended to ensure that infants with CCHD are identified and treated. Early and appropriate intervention is associated with adulthood survival rates of more than 82%.7

 

Conducting CCHD screening

Screening for CCHD should occur 24 to 48 hours after birth or before hospital discharge if the infant leaves within 24 hours of birth.3,8 Waiting 24 hours is preferable because normal physiologic changes that occur in the first 24 hours after birth may cause false-positive results.3

 

Clinicians perform CCHD screening with motion-tolerant pulse oximetry, done concurrently or in quick succession between the right hand and either foot to measure the percentage of hemoglobin saturated with oxygen in peripheral blood.8 (See Screening algorithm for CCHD.) A failed screen includes any of the following:

  
Figure. Screening al... - Click to enlarge in new windowFigure. Screening algorithm for CCHD

* oxygen saturation (SpO2) less than 90%, in either the upper or lower extremity (immediate failure)

 

* SpO2 less than 95% in both upper and lower extremities on three measurements, each separated by 1 hour

 

* an SpO2 difference of more than 3% between the upper and lower extremities on three measurements, each separated by 1 hour.

 

 

Failed pulse oximetry screens should be followed up with an echocardiogram. If follow-up reveals CCHD, the infant should be immediately evaluated by a pediatric cardiologist and, if necessary, transferred to a facility with pediatric cardiology expertise.1 Follow-up care required after a failed screen is covered by most health insurance policies.3

 

Benefits and concerns

States that have implemented mandatory screening for CCHD with pulse oximetry report significantly fewer early infant cardiac deaths and a 33% to 50% decrease in CCHD-related deaths.7 Interestingly, during this same time, states with voluntary screening policies had no change in early infant deaths related to CCHD.5

 

Some questions remain about the best way to implement CCHD screening, particularly in high-altitude settings and in neonatal intensive care units (NICUs).5 NICU-specific protocols may be necessary to account for supplemental oxygen dependence and the need to rescreen after ductal closure.8

 

Nurses can help educate patients about the importance of screening for CCHD. Several free resources are available to assist with educational efforts, including the Pulse Oximetry Screening for Congenital Heart Disease Toolkit available at https://wisconsinshine.org/handouts/Pulse-Oximetry-Toolkit.pdf, and Screening for Critical Congenital Heart Defects educational handouts from the CDC, available at http://www.cdc.gov.

 

REFERENCES

 

1. Oster M. Newborn screening for critical congenital heart disease using pulse oximetry. UpToDate. 2018. http://www.uptodate.com. [Context Link]

 

2. Centers for Disease Control and Prevention. Congenital heart defects (CHDs). Critical CHD screening methods. 2018. http://www.cdc.gov/ncbddd/heartdefects/hcp.html. [Context Link]

 

3. American Academy of Pediatrics. Newborn screening: critical congenital heart defects. http://www.aap.org/en-us/advocacy-and-policy/aap-health-initiatives/pehdic/pages. [Context Link]

 

4. Mouledoux JH, Walsh WF. Evaluating the diagnostic gap: statewide incidence of undiagnosed critical congenital heart disease before newborn screening with pulse oximetry. Pediatr Cardiol. 2013;34(7):1680-1686. [Context Link]

 

5. Grosse SD, Riehle-Colarusso T, Gaffney M, et al CDC grand rounds: newborn screening for hearing loss and critical congenital heart disease. MMWR Morb Mortal Wkly Rep. 2017;66(33):888-890. [Context Link]

 

6. Health Resources & Services Administration. Federal Advisory Committees. Recommended Uniform Screening Panel. 2018. http://www.hrsa.gov/advisory-committees/heritable-disorders/rusp/index.html. [Context Link]

 

7. Abouk R, Grosse SD, Ailes EC, Oster ME. Association of US state implementation of newborn screening policies for critical congenital heart disease with early infant cardiac deaths. JAMA. 2017;318(21):2111-2118. [Context Link]

 

8. Fernandes N, Short B, Manja V, Lakshminrusimha S. Critical congenital heart disease screening in NICU: need for revision and standardization. Am J Perinatol. 2017;34(14):1470-1476. [Context Link]

 

9. Kemper AR, Mahle WT, Martin GR, et al Strategies for implementing screening for critical congenital heart disease. Pediatrics. 2011;128(5):e1259-e1267. [Context Link]