While prenatal and postnatal diagnosis of congenital heart disease has improved over the last two decades, missed or delayed diagnosis still continues to be a significant problem, according to findings.

While prenatal and postnatal diagnosis of congenital heart disease has improved over the last two decades, missed or delayed diagnosis still continues to be a significant problem, according to findings published in the October issue of the Archives of Pediatrics and Adolescent Medicine.

"Congenital heart disease affects eight to 12 per 1000 live-born infants and is one of the most common and serious types of birth defects," Dr. Ruey-Kang R. Chang, of UCLA Medical Center, Torrance, California, and colleagues write. "Many infants born with congenital heart disease are discharged from the hospital nursery with their conditions undiagnosed."

The researchers examined the rate of missed or late diagnoses of critical congenital heart disease in a population-based retrospective study of infants in California between 1989 and 2004.

A total of 898 infants who died of critical congenital heart disease within a year of birth who either did not undergo surgery or had an unknown surgery status were identified from statewide death registry data.

Of the 898 infants, 152 had a missed diagnosis of critical congenital heart disease. The median age at death for this group was 13.5 days. The most common diagnoses were hypoplastic left heart syndrome (n = 58) and coarctation of the aorta (n = 41).

"The detection of coarctation of aorta and hypoplastic left heart syndrome can be improved by prenatal echocardiography of high-risk pregnancy and careful cardiovascular examination of infants prior to nursery discharge," Dr. Chang commented in an email to Reuters Health. "There have been debates on whether pulse oximetry screening should be performed on all infants prior to nursery discharge."

"Infant deaths due to missed or delayed CHD diagnosis, although uncommon, continue to be a significant problem," he added. "Such occurrences can be devastating for parents and families," Dr. Chang said. "As clinicians caring for infants, it is crucial to diagnose critical congenital heart disease early to prevent devastating events."

Arch Pediatr Adolesc Med 2008;162:969-974