Strategies for Implementing Screening for Critical Congenital Heart Disease

Abstract

BACKGROUND: Although newborn screening for critical congenital heart disease (CCHD) was recommended by the US Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns and Children to promote early detection, it was deemed by the Secretary of the HHS as not ready for adoption pending an implementation plan from HHS agencies. OBJECTIVE: To develop strategies for the implementation of safe, effective, and efficient screening. METHODS: A work group was convened with members selected by the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children, the American Academy of Pediatrics, the American College of Cardiology Foundation, and the American Heart Association. RESULTS: On the basis of published and unpublished data, the work group made recommendations for a standardized approach to screening and diagnostic follow-up. Key issues for future research and evaluation were identified. CONCLUSIONS: The work-group members found sufficient evidence to begin screening for low blood oxygen saturation through the use of pulse-oximetry monitoring to detect CCHD in well-infant and intermediate care nurseries. Research is needed regarding screening in special populations (eg, at high altitude) and to evaluate service infrastructure and delivery strategies (eg, telemedicine) for nurseries without on-site echocardiography. Public health agencies will have an important role in quality assurance and surveillance. Central to the effectiveness of screening will be the development of a national technical assistance center to coordinate implementation and evaluation of newborn screening for CCHD.

Delayed Diagnosis of Critical Congenital Heart Defects: Trends and Associated Factors

“…Most CCHD definitions include the 7 defects that are considered primary targets for pulse oximetry screening, based on their tendency to result in hypoxemia: hypoplastic left heart syndrome, pulmonary atresia, tetralogy of Fallot, total anomalous pulmonary venous return, transposition of the great arteries, tricuspid atresia, and truncus arteriosus. [3][4][5] Many definitions also include some CHDs that do not consistently present with hypoxemia, such as coarctation of the aorta. 3,5,6 Several also incorporate a measure of severity, including a requirement that surgery, catheterization, or death occur within a specified time period, ranging from the first few weeks to the first year of life.…”

Transposition of the Great Arteries and Coarctation of the Aorta in an Infant Presenting with Bronchiolitis: An incidental finding

“…This method of postnatal testing has been incorporated into numerous newborn screening programmes worldwide and is recommended by the American Academy of Pediatrics, American Heart Association and the American College of Cardiology. 10,11 Overall, the percentage of severe congenital heart diseases diagnosed postnatally has increased from 58% with clinical examinations alone to 72% with pulse oximetry. 10,12 Asymptomatic neonates should be screened after 24 hours of life or before discharge at two sites, including the right hand and foot.…”

Neonatal screening for life-threatening conditions persistent – pulmonary hypertension in newborns and critical congenital heart disease – by the method of pulse oximetry

“…Во многих развитых странах использование пульсоксиметрии является стандартом медицинской помощи в плановой оцен-ке состояния новорожденных [8][9][10]. В 2011 г. в США был принят скрининг по диагностике критических врожденных пороков сердца методом пульсоксиме-трии и включен в Recommended Uniform Screening Panel.…”

“…Во всех ныне существующих рекомендациях по скринингу первое измерение сатурации крови проводят после 24 ч жизни [12,13]. Данная методика позволяет заподозрить критические пороки сердца, но для раннего выявления указанных пороков и пер-систирующей легочной гипертензии проведение пульсоксиметрии на 2-е сутки жизни не является своевременной диагностикой.…”