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Epidemiologic features of the presentation of critical congenital heart disease: implications for screening.

Abstract：

OBJECTIVE:Critical congenital heart disease has been proposed as a target of newborn screening. This study aimed to define the incidence and timing of significant physiologic compromise attributable to critical congenital heart disease as well as the distribution of vulnerable lesions. These descriptive parameters must be defined to evaluate the impact and feasibility of any proposed screening strategy. METHODS:A retrospective cohort study of neonates who had critical congenital heart disease and were admitted to a single institution was conducted. Critical congenital heart disease was defined as congenital heart disease that required invasive intervention or resulted in death in the first 30 days of life. Significant physiologic compromise was defined by severe metabolic acidosis, seizure, cardiac arrest, or laboratory evidence of renal or hepatic injury before invasive intervention. Significant physiologic compromise was classified as potentially preventable when it occurred as a result of undiagnosed congenital heart disease after 12 hours of life. RESULTS:Significant physiologic compromise occurred in 76 (15.5%) of 490 patients, and potentially preventable significant physiologic compromise occurred in 33 (6.7%) of 490 patients. Most (83%) significant physiologic compromise as a result of unrecognized congenital heart disease occurred after 12 hours of age. A total of 90.9% of cases of potentially preventable significant physiologic compromise had aortic arch obstruction. The incidence of potentially preventable significant physiologic compromise as a result of congenital heart disease in the general population is estimated to be 1 per 15,000 to 1 per 26,000 live births. CONCLUSIONS:The incidence and timing of significant physiologic compromise as a result of critical congenital heart disease seems amenable to postnatal screening. Any viable screening strategy must be sensitive for lesions with aortic arch obstruction.

journal_name

Pediatrics

journal_title

Pediatrics

authors

Schultz AH,Localio AR,Clark BJ,Ravishankar C,Videon N,Kimmel SE

doi

10.1542/peds.2007-0421

subject

Has Abstract

pub_date

2008-04-01 00:00:00

pages

751-7

issue

eissn

0031-4005

issn

1098-4275

pii

121/4/751

journal_volume

121

pub_type

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Epidemiologic features of the presentation of critical congenital heart disease: implications for screening.