Approximately one in 125 newborns are born with an abnormality in the way their hearts were formed. These are called congenital heart defects (CHD) and are the most common birth defect in the United States. Sometimes they kill. About 25 percent of these CHDs are considered critical because they can present soon after birth with life-threatening conditions. Many of the problems with critical CHD are related to low oxygen levels in the blood and poor blood flow to the body. Current methods for identifying these infants (such as visual inspection of a baby or other physical exam maneuvers like listening with a stethoscope) are not sensitive enough to identify all of these babies. Therefore, some babies born with a critical heart defect can appear relatively healthy at first and be sent home with their unsuspecting families before the defect is recognized and symptoms develop. These babies are at risk for having serious problems and even death within the first few days or weeks of life and often delayed in receiving the emergency care they require.
Let me share the story of a recent baby who ultimately received care at our institution. This full-term baby was born in an outside community hospital. After birth he was doing reasonably well. Although a picky feeder with some breathing problems, he was stable for the first one or two days and was discharged home with his family. The family struggled at home to get the baby to feed properly but he ultimately stopped taking the bottle, became very pale and was not wetting his diapers. Fortunately, they took him to the local community hospital in the middle of the night where there was initial concern for an infection. Blood tests were obtained and antibiotics started. After no improvement overnight the baby was transferred to our hospital. We performed a cardiology evaluation (including pulse oximetry), revealing abnormally low oxygen levels in the blood. A subsequent ultrasound of the heart (echocardiogram) showed a significant congenital heart abnormality. By this time there was concern for both brain and kidney damage because of the delay in diagnosis. It is likely the diagnosis of a CHD could have been made initially after birth with pulse oximetry screening in the newborn nursery, saving these parents and their baby a lot of distress.