Background— The purpose of this statement is to address the state of evidence on the routine use of pulse oximetry in newborns to detect critical congenital heart disease (CCHD).
Methods and Results— A writing group appointed by the American Heart Association and the American Academy of Pediatrics reviewed the available literature addressing current detection methods for CCHD, burden of missed and/or delayed diagnosis of CCHD, rationale of oximetry screening, and clinical studies of oximetry in otherwise asymptomatic newborns. MEDLINE database searches from 1966 to 2008 were done for English-language papers using the following search terms: congenital heart disease, pulse oximetry, physical examination, murmur, echocardiography, fetal echocardiography, and newborn screening. The reference lists of identified papers were also searched. Published abstracts from major pediatric scientific meetings in 2006 to 2008 were also reviewed. The American Heart Association classification of recommendations and levels of evidence for practice guidelines were used. In an analysis of pooled studies of oximetry assessment performed after 24 hours of life, the estimated sensitivity for detecting CCHD was 69.6%, and the positive predictive value was 47.0%; however, sensitivity varied dramatically among studies from 0% to 100%. False-positive screens that required further evaluation occurred in only 0.035% of infants screened after 24 hours.
Conclusions— Currently, CCHD is not detected in some newborns until after their hospital discharge, which results in significant morbidity and occasional mortality. Furthermore, routine pulse oximetry performed on asymptomatic newborns after 24 hours of life, but before hospital discharge, may detect CCHD. Routine pulse oximetry performed after 24 hours in hospitals that have on-site pediatric cardiovascular services incurs very low cost and risk of harm. Future studies in larger populations and across a broad range of newborn delivery systems are needed to determine whether this practice should become standard of care in the routine assessment of the neonate.
Currently, children with CCHD are diagnosed by a variety of mechanisms. Neonates with CCHD may be diagnosed in the newborn nursery on the basis of physical examination findings, such as heart murmurs, tachypnea, or overt cyanosis. These findings are not always evident before hospital discharge, which may occur before 48 hours of life. A recent study from the United Kingdom suggested that 25% of infants with CCHD were not diagnosed with heart disease until after discharge from the newborn nursery. The median age of diagnosis in these cases was 6 weeks. A recent publication from the United States suggested that delayed or missed diagnosis occurs in 7 per 100 000 livebirths. However, because these data are derived from a birth defect surveillance program with passive and thus incomplete case ascertainment, this calculation most likely represents a minimum estimate.
Newborns with CCHD are susceptible to profound, sudden worsening in clinical status in the first days and weeks of life. These acute physiological changes correspond to changes in pulmonary vascular resistance and closure of the ductus arteriosus. In neonates with CCHD, the ductus arteriosus is often essential for maintaining either pulmonary or systemic blood flow. These CCHD defects are considered ductus arteriosus–dependent lesions. The newborn hospitalization provides a critical window for caregivers to identify CCHD lesions in order to avoid hemodynamic embarrassment. The timing of constriction or closure of the ductus arteriosus also explains why children with CCHD may be particularly vulnerable to cardiovascular collapse soon after discharge from the newborn nursery.
Children with CCHD are identified in a variety of ways. Since the late 1980s, prenatal ultrasound has been used to screen for congenital anomalies. An anatomic ultrasound is typically performed at 18 to 20 weeks’ gestation. During this process many, but not all, cases of CCHD can be identified by a methodical scan. When CCHD is identified by this approach, the patient is often referred to a pediatric cardiologist for confirmatory imaging and counseling. With knowledge that the fetus has CCHD, the newborn can be delivered in a hospital capable of providing intensive care, including prostaglandin, as well as mechanical ventilation. The newborn can be stabilized and transferred to a congenital heart center.
Prenatal ultrasound, performed by those with specific training in congenital heart disease, can identify a variety of CCHD lesions; however, numerous studies have reported that even when fetal ultrasound is routinely performed during pregnancy, fewer than 50% of cases of CCHD are identified. Most of the published literature comes from European countries, which tend to have more centralized healthcare systems and uniform practices vis-à-vis prenatal ultrasound. As such, these systems may represent the best-case scenario for population prenatal ultrasound screening. In the United States, many congenital surgery referral centers have reported prenatal detection rates >50% for functional single-ventricle lesions, although the detection rate is generally 24 hours after birth would appear to be the most reasonable strategy. This screening strategy assumes that the majority of newborns will not be discharged on the first day of life. With early discharge at less than 24 hours of age, many infants would not be screened.
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