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Newborn screening for critical congenital heart disease using pulse oximetry

Author
Matt Oster, MD, MPH
Section Editors
David R Fulton, MD
Leonard E Weisman, MD
Deputy Editor
Carrie Armsby, MD, MPH

INTRODUCTION

Congenital heart disease (CHD) is the most common congenital disorder in newborns [1-3]. Critical CHD, defined as requiring surgery or catheter-based intervention in the first year of life (table 1), occurs in approximately 25 percent of those with CHD [4]. Although many newborns with critical CHD are symptomatic and identified soon after birth, others are not diagnosed until after discharge from the birth hospitalization [5-8]. In infants with critical cardiac lesions, the risk of morbidity and mortality increases when there is a delay in diagnosis and timely referral to a tertiary center with expertise in treating these patients [9-11].

Newborn screening for critical CHD using pulse oximetry will be reviewed here. The presentation of critical CHD and management of specific cardiac conditions are discussed separately. (See "Identifying newborns with critical congenital heart disease" and "Cardiac causes of cyanosis in the newborn" and "Diagnosis and initial management of cyanotic heart disease in the newborn".)

DEFINITION AND TARGETED LESIONS

Critical CHD refers to lesions requiring surgery or catheter-based intervention in the first year of life (table 1). This category includes ductal-dependent and cyanotic lesions as well as less severe forms of CHD that are not dependent on the patent ductus arteriosus (PDA). Critical CHD accounts for approximately 25 percent of all CHD.

CHD lesions targeted by pulse oximetry screening include defects that typically a) require intervention in the first year of life and b) present with hypoxemia some or most of the time [12,13]. These include but are not limited to:

Hypoplastic left heart syndrome (HLHS) (figure 1) (see "Hypoplastic left heart syndrome")

                    

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Literature review current through: Nov 2016. | This topic last updated: Tue Jun 21 00:00:00 GMT 2016.
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