In the Swedish study on which the recommended pulse-oximetry screening protocol is based, 25% of babies with a failed screen had CCHD, 47% had another disease process such as pulmonary pathology or sepsis, and 28% were well.
Published data from New Jersey demonstrates that in asymptomatic babies with a failed CCHD screen, 10% had CCHD, 23% had another disease process causing hypoxemia, and 67% had non-critical congenital heart defect or were well.
About 18 per 10,000 babies are born with critical congenital heart defects (CCHDs, also known as critical congenital heart disease), which are life threatening and require catheter-based intervention or heart surgery during the neonatal period.Delayed diagnosis of CCHD may result in the child having a poorer preoperative condition and worse cardiopulmonary and neurological outcomes after treatment.Studies from Europe and the United States have found that CCHD screening can be an effective way to detect serious health problems in otherwise well-appearing newborns.However, CCHD is not always detected prenatally or upon exam in the nursery.As a result, some infants with CCHD are discharged from the nursery to home, where they quickly decompensate.The program began in the 1960s as a way to detect metabolic disorders using dried-blood spots.
Today, nearly all newborn babies have a blood spot taken and sent to a centralized laboratory for evaluation.
Overall, nearly one percent of all newborns have a congenital heart defect (CHD).
CHDs are the leading cause of birth defect-associated infant illness and death.
Some states now mandate that all newborns be screened by pulse oximetry for CCHD as part of newborn screening.
The role of state health departments in supporting CCHD screening adoption and monitoring of screening rates and outcomes varies.
The differences between these two studies may be in part related to age at screening and a much higher prenatal detection rate of CCHD in New Jersey than in Sweden. It is important to recognize that a baby with a failed screen can look completely well on exam but have a significant underlying medical problem. Prenatal ultrasounds can detect fewer than half of the cases of CCHD and predicting saturations based on visual examination of color is unreliable.