Why is CCHD screening so prominent now? Is it really a good use of limited resources?
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. In addition to detecting CCHD, screening with pulse oximetry can detect other serious medical problems, including sepsis or pneumonia. As a result, the Secretary of Health and Human Services (HHS) recently recommended that screening for CCHD be added to the recommended uniform newborn screening panel.
As with any other screening test, CCHD screening is not perfect. Screening can sometimes miss cases or identify babies who do not have serious medical problems. However, work conducted by the Centers for Disease Control and Prevention have found that well-conducted, comprehensive, and coordinated CCHD screening programs have comparable cost-effectiveness to other recommended preventive services
because of the ability to reduce morbidity and mortality
. These Frequently Asked Questions were put together to help busy health care providers implement such screening.
Newborn screening is a public health program intended to ensure that all newborns be tested for specific conditions, regardless of where they are born and their insurability. 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. The goal of newborn screening is to identify conditions that are not associated with clinical signs or symptoms during the newborn period but that benefit from early detection. Each state determines which conditions are included in newborn screening.
Over the past decade, newborn screening has expanded to include screening for congenital hearing loss. This is the first example of a point-of-care newborn screening test. All states now include screening for congenital hearing loss as part of newborn screening.
Because early infancy intervention is essential for babies with CCHD, adding CCHD to newborn screening is an important strategy to assure that all newborns are screened. 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. Unlike other current newborn screening tests, the health care team should assure diagnostic, and when necessary, treatment services are provided to those babies with a failed CCHD screen prior to discharge home. It is also important for health care providers in states that have adopted CCHD newborn screening to be aware of the specific requirements and recommendations for screening and the reporting of results.
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. 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. Overall, the false positive rate is very low. 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.
Maybe not. Prenatal ultrasounds can detect fewer than half of the cases of CCHD and predicting saturations based on visual examination of color is unreliable. Prior to discharge, some babies with CCHD will have normal exams and not appear cyanotic.
Often the ductus arteriosus does not close until after the baby goes home. Before closing, the ductus arteriosus may provide a significant amount of blood flow to the lungs or body. As a result, babies with CCHD can quickly decompensate when the ductus arteriosus closes. Pulse oximetry can accurately detect the lower oxygen saturations associated with CCHD with ductal-dependent systemic or pulmonary blood flow.