- The number one cause of infant death in developed countries is congenital heart defects.
- 25% of babies born with heart defects have critical congenital heart disease (C-CHD).
- About 7,200 babies born in the U.S. each year have C-CHD.
Background for recommendations: importance of early detection of critical congenital heart disease
Congenital heart defects (CHD) are the leading cause of death and severe illness in infants in developed countries. For newborns diagnosed with the most serious type of CHD, C-CHD, surgery or catheter intervention is necessary before an infant is one year old. Despite it being one of the most common types of congenital malformations, C-CHD is not always diagnosed early and referred to a pediatric cardiologist. Factors like the type of C-CHD lesion and geographic location affect detection rates, and not all hospitals have pediatric-trained sonographers.
Early detection can save lives
With some symptoms not appearing until after the first 48 hours of life, early detection of C-CHD is critical for staging the appropriate intervention. A delayed or missed diagnosis can lead to death or severe and long-lasting health problems such as severe cyanosis, cardiovascular collapse, or neurodevelopmental abnormalities due to brain injury.
There is a critical window of time during newborn hospitalization where screening for and detection of C-CHD could lead to improved outcomes. Since adult sonographers typically don’t screen for C-CHD, specific guidelines and standards could aid in their detection of C-CHD.
Members of the American Society of Echocardiography, including experts in the Heart Institute at Children’s Hospital Colorado, created recommendations for adult sonographers that describe the pathology, along with 30 videos demonstrating the 12 most common forms of C-CHD that are detectable by Pulse Oximetry Screening (POS).
C-CHD screening methodology and pulse oximetry screening
Common current C-CHD screening methodology focuses on POS, a non-invasive way to detect hypoxemia. Previous research from the American Heart Association and the American Academy of Pediatrics found that when used within the first 24 hours of life, POS can detect C-CHD, the estimated sensitivity for detecting C-CHD was 69.6%, while specificity was 99% and the positive predictive value was 47%.
Many types of C-CHD are targeted for their reliability of identification by POS.