

In 2010, the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children recommended Critical Congenital Heart Disease (CCHD) to the national Uniform Screening Panel. The Rhode Island Newborn Screening Advisory Committee has reviewed this recommendation and endorses the inclusion of CCHD in the Rhode Island Newborn Screening Panel. The American Heart Association, American Academy of Pediatrics, American College of Cardiology, and US Secretary of Health and Human Services Kathleen Sebelius also support screening newborns for CCHD. Pulse oximetry screening is used to detect CCHD in infants.
Critical Congenital Heart Disease (CCHD) is the most common birth defect and may be detected during the prenatal and postnatal period. It is estimated that approximately 8 of every 1,000 live births will have CCHD. (more) CCHD requires surgery or catheter intervention during the first year of life.
Most infants with CCHD will have some degree of hypoxia, 70% of which will be picked up from pulse oximetry screening. A normal pulse oximetry screening does not rule out CCHD.
Failure to detect CCHD in newborns may lead to critical events such as cardiogenic shock or death. Survivors who present late are at greater risk for neurologic injury and subsequent developmental delays. Early detection of CCHD can potentially improve the prognosis and decrease the mortality and morbidity rate of affected infants.
Women and Infants Hospital is piloting pulse oximetry screening as of November 2012 to assess the feasibility of screening all Rhode Island newborns for CCHD prior to hospital discharge. This pilot is based on a review of current literature on pulse oximetry screening for CCHD and research on best practices for implementing this screening. Recommended guidelines will be provided to all Rhode Island birthing hospitals once CCHD screening is implemented statewide.
In 2012, the Rhode Island Newborn Screening Program and Women and Infants Hospital , in partnership with the New England Genetics Collaborative and other New England states, were awarded grant funding to participate in a regional CCHD demonstration project. The Women & Infants pilot is part of this project.
You will be notified if your patient has failed the screening. Pass results are available in the baby's medical record and the parent/guardian will be given the pass results before discharge.
If you have any clinical questions please contact Dr. Ziegler. F eel free to contact Christelle Larose in the Rhode Island Newborn Screening Program with any additional questions.