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Screening for Congenital Heart Disease in Infants with Down Syndrome: Is Universal Echocardiography Necessary?

Abstract：

:Current guidelines recommend that all neonates with Down syndrome (DS) be screened for congenital heart disease (CHD) with an echocardiogram. We sought to determine the effectiveness of a more accessible and less expensive screening strategy consisting of physical examination, electrocardiogram (ECG), and chest X-ray. The Intermountain Healthcare Enterprise Data Warehouse was used to identify infants with a positive karyotype for DS who were born between January 1, 2000, and June 30, 2012. Infants with the results of an echocardiogram, physical examination, ECG, and chest X-ray documented at age ≤6 months were included. Infants with an abnormality on physical examination, ECG, or chest X-ray were considered to have a positive screen. Echocardiography was the gold standard for calculating sensitivity, specificity, positive and negative predictive values for major CHD, defined as any heart defect that would typically require intervention during early childhood. Of 408 eligible infants, 240 (59 %) had major CHD, of whom 228 (95 %) had a positive screen. Screening missed eight infants with moderate/large patent ductus arteriosus and four infants with a moderate/large atrial septal defect. In 11 of these infants, the defect resolved spontaneously by age ≤4 months. One infant had a moderate atrial septal defect persisting at 2-year follow-up. Sensitivity and specificity of the screening for detecting CHD were 95 % (CI 92-98 %) and 41 % (CI 32-47 %); positive and negative predictive values were 69 % (CI 63-73 %) and 85 % (CI 75-92 %). Screening with physical examination, ECG, and chest X-ray is an effective method of identifying which infants with DS should have an echocardiogram. This method would have resulted in 69 (17 %) fewer echocardiograms without missing infants with major CHD.

journal_name

Pediatr Cardiol

journal_title

Pediatric cardiology

authors

Bogarapu S,Pinto NM,Etheridge SP,Sheng X,Liesemer KN,Young PC,Saarel EV

doi

10.1007/s00246-016-1419-2

subject

Has Abstract

pub_date

2016-10-01 00:00:00

pages

1222-7

issue

eissn

0172-0643

issn

1432-1971

pii

10.1007/s00246-016-1419-2

journal_volume

pub_type

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Screening for Congenital Heart Disease in Infants with Down Syndrome: Is Universal Echocardiography Necessary?