Source: National Center on Birth Defects and Developmental Disabilities (NCBDDD) — Content from the Centers for Disease Control and Prevention (public domain).
Key points
* Screening for critical congenital heart defects (CCHDs) can help identify some babies with a CCHD before they go home from the birth hospital.
* Screening allows babies to be treated early and may prevent disability or death early in life.
Importance of screening Newborn screening may identify critical congenital heart defects (CCHDs) before signs are evident. Identifying newborns with these conditions before hospital discharge can help ensure they receive prompt care and treatment. Timely care may prevent disability or death early in life. Screening has prevented early infant death Mandated CCHD screening using pulse oximetry reduces early infant deaths from CCHD by 33%, or 120 early infant deaths from CCHD averted per year. Screening guidelines Current recommendations focus on screening healthy-appearing newborns in:
* Newborn nurseries
* Neonatal intensive care unit (NICU) or other settings after the child has been weaned off supplemental oxygen
Screening is done when a baby is at least 24 hours of age or as late as possible if the baby is to be discharged before 24 hours of age. Timing the screening around the time of the newborn hearing screening can help improve efficiency. A pulse oximeter is used to measure the percentage of hemoglobin in the blood that is saturated with oxygen. The following is the recommended algorithm, for newborn screening for critical congenital heart disease using pulse oximetry (Oster et al., 2025) View LargerDownload
NOTE: Percentages refer to O2 saturation as measured by pulse oximeter Pulse oximetry screening should not replace taking a complete family health history, pregnancy history, or physical examination. These exams may detect CCHDs before the development of low oxygen levels (hypoxemia) in the blood. Screening with pulse oximetry identifies several types of CCHDs, the most common are below. Screening targets Screening with pulse oximetry can identify a number of types of CCHDs, the most common of which are shown below. While not the main targets of screening, many conditions other than CCHDs may present with hypoxemia. As a result, such conditions may also be detected via pulse oximetry. Critical Congenital Heart Defects
* Coarctation of the aorta and Hypoplastic left heart syndrome
* Double outlet right ventricle, Ebstein anomaly, and Single ventricle
* Interrupted aortic arch and Tetralogy of Fallot
* Pulmonary atresia and Total anomalous pulmonary venous return
* d-Transposition of the great arteries
* Tricuspid artresia and Truncus ateriosus
* Other critical defects not otherwise specified
Other conditions that are not CCHDs * Hemoglobinopathy * Hypothermia * Infection, including sepsis * Lung disease (congenital or acquired) * Non-critical congenital heart defect * Persistent pulmonary hypertension * Other hypoxic conditions not otherwise specified Screening outcomes Failed screens A screen is considered failed if at least one of these occur: 1. Any oxygen (O2) saturation measure is <90% in either the right hand or foot (initial screen/repeat screen) 2. O2 saturation is <95% in either the right hand or foot on 2 measures* 3. A >3% difference in O2 saturation between the right hand and foot on 2 measures* *Each separated by one hour Any infant who fails the screen should have an evaluation for causes of hypoxemia. In most cases this will include an echocardiogram. If a reversible cause of hypoxemia is identified and appropriately treated, an echocardiogram may not be necessary. The infant’s pediatrician should be notified immediately and the infant might need to be seen by a cardiologist. Passed screens A screen is considered passed when there is an oxygen saturation measure that is: 1. ≥95% in BOTH the right hand and foot 2. ≤3% absolute difference between the right hand and foot When the above conditions are met, screening would end. Pulse oximetry screening does not detect all CCHDs. Therefore, it is possible for a baby with a passing screening result to still have a CCHD or other congenital heart defect. Ways to reduce false positive screens * Screen the newborn while he or she is alert. * Screen the newborn when he or she is at least 24 hours old. * Screen the newborn after he or she has been weaned off supplemental O2. Resources Online resources American Academy of Pediatrics: Newborn Screening for Critical Congenital Heart Defect (CCHD) . This online resource provides medical staff with comprehensive instructions on how to perform newborn screening for CCHD. Children’s National Medical Center’s Congenital Heart Disease Screening Program has created videos about critical CHD screening for parents and healthcare professionals. Congenital Heart Public Health Consortium (CHPHC). CHPHC’s website provides resources for families and providers on heart defects and screening. NewSTEPS. This webpage on CCHDs provides a central location for resources related to these conditions, including webinars, legislative updates, and news. Publications American Academy of Pediatrics: Newborn Screening for Critical Congenital Heart Disease: A New Algorithm and Other Updated Recommendations: Clinical Report American Academy of Pediatrics: Endorsement of Health and Human Services Recommendation for Pulse Oximetry Screening for Critical Congenital Heart Disease Evidence review: Critical congenital cyanotic heart disease Role of pulse oximetry in examining newborns for congenital heart disease: A scientific statement from the AHA and AAP NIH/NLM Newborn Screening Coding and Terminology Guide. Pulse oximetry screening for critical congenital heart defects in asymptomatic newborn babies: a systematic review and meta-analysis.