Prenatal and Newborn Screening for Critical Congenital Heart Disease: Findings From a Nursery

Abstract

WHAT'S KNOWN ON THIS SUBJECT:The detection of critical congenital heart disease by fetal echocardiography or neonatal physical examination can have limitations. The addition of pulse oximetry screening in the newborn nursery increases the rate of diagnosis of these conditions before hospital discharge. WHAT THIS STUDY ADDS:In a tertiary-care center with comprehensive fetal echocardiography, nearly all newborns with critical congenital heart disease are diagnosed prenatally. Pulse oximetry will identify more infants from settings with lower prenatal detection. Improving access to and training in fetal echocardiography should also improve detection of these conditions. abstract BACKGROUND: Delayed diagnosis of critical congenital heart disease (CCHD) in neonates increases morbidity and mortality. The use of pulse oximetry screening is recommended to increase detection of these conditions. The contribution of pulse oximetry in a tertiary-care birthing center may be different from at other sites. METHODS:We analyzed CCHD pulse oximetry screening for newborns $35 weeks' gestation born at Brigham and Women' s Hospital and cared for in the well-infant nursery during 2013. We identified patients with prenatal diagnosis of CCHD. We also identified infants born at other medical centers who were transferred to Boston Children' s Hospital for CCHD and determined if the condition was diagnosed prenatally. RESULTS:Of 6838 infants with complete pulse oximetry data, 6803 (99.5%) passed the first screening. One infant failed all 3 screenings and had the only echocardiogram prompted by screening that showed persistent pulmonary hypertension. There was 1 false-negative screening in an infant diagnosed with interrupted aortic arch. Of 112 infants born at Brigham and Women' s Hospital with CCHD, 111 had a prenatal diagnosis, and none was initially diagnosed by pulse oximetry. Of 81 infants transferred to Boston Children' s Hospital from other medical centers with CCHD, 35% were diagnosed prenatally. CONCLUSIONS:In our tertiary-care setting, pulse oximetry did not detect an infant with CCHD because of effective prenatal echocardiography screening. Pulse oximetry will detect more infants in settings with a lower prenatal diagnosis rate. Improving training in complete fetal echocardiography scans should also improve timely diagnosis of CCHD. Pediatrics 2014;134:916-922

Positive predictive value of pulse oximetry in the screening of critical congenital heart defects in term neonates

“…There was one falsenegative screening subsequently diagnosed as interrupted aortic arch. 16 Early diagnosis is important especially in a ductus dependent cardiac condition as most of the peripheral centers in our country are not equipped to manage these neonates and require transport to a tertiary care center. A low SpO2 at 24-48 hours of birth would promote an extensive clinical re-examination of the neonate and that, with follow up would help in deciding whether an echocardiogram is required in centers where it is not easily available.…”

Neonatal Respiratory Distress

“…Cyanotic heart disease should be suspected if Sao 2 value is less than 90% after 15 minutes of age. 5 In critically ill infants or when the diagnosis in unclear, a neonatologist, cardiologist, pulmonologist, or ENT surgeon must be promptly consulted.…”

“…9), sequestration of lung, congenital cystic adenomatous malformation of lung, congenital lobar emphysema, lymphangiectesis, or mass in the chest may present with respiratory distress either in the newborn period or during infancy. [5][6][7][8][34][35][36] If these are diagnosed antenatally, the patient should be transferred to a perinatal center for further management. A pediatric surgeon should be consulted.…”

Doctor the Baby is Blue! An Approach to the Diagnosis and Management

“…Newborn screening for critical congenital heart disease helps pick up duct dependent systemic circulation abnormalities where there is little or no murmur, for example from a tight coarctation of the aorta or an interrupted aortic arch [9]. The peripheral circulation is maintained by the right ventricle ejecting blood through the duct into the descending aorta so that the saturations in the lower limb will be less than the saturations in the right upper limb (preductal).…”