Delayed Diagnosis of Critical Congenital Heart Defects: Trends and Associated Factors

Abstract

OBJECTIVE: We aimed to examine trends in timing of diagnosis of critical congenital heart defects (CCHDs) and factors associated with delayed diagnosis (diagnosis after discharge home following delivery). METHODS: We examined a population-based retrospective cohort of CCHD cases among live births identified through the Massachusetts Birth Defects Monitoring Program. Congenital heart defects were considered critical if the infant received corrective surgery, interventional catheterization, palliative care, or died as a result of the defect within 12 months of birth. Timing of initial diagnosis was classified as prenatal, postnatal before discharge home, or delayed. Demographic, perinatal, and mortality information was obtained from the Registry of Vital Records and Statistics. Prevalence ratios (PRs) were used to examine associations with delayed diagnosis. RESULTS: Among 460 467 live births to Massachusetts residents between 2004 and 2009, we identified 916 CCHD cases, of which 126 (13.8%) had delayed diagnosis. Rates of prenatal CCHD diagnosis increased from 44.9% in 2004 to 63.8% in 2009, whereas rates of delayed diagnosis decreased from 17.1% to 10.6% over the same time period. Among cases with delayed diagnosis, the most common defects were coarctation, pulmonary valve stenosis, and tetralogy of Fallot. Delayed diagnosis was associated with delivery outside a tertiary hospital (adjusted PR: 3.6 [95% confidence interval: 2.5–5.2]) and isolated CCHD (adjusted PR: 1.7 [95% confidence interval: 1.1–2.7]). CONCLUSIONS: Despite increasing prenatal diagnosis of CCHDs, delayed diagnosis still occurs in over 10% of cases. Understanding factors associated with delayed diagnosis could help to improve prenatal and postnatal screening efforts, including pulse oximetry testing.

Estimated Number of Infants Detected and Missed by Critical Congenital Heart Defect Screening

“…10 Our birth prevalence estimates were restricted to only the five central counties of metropolitan Atlanta and our prenatal diagnosis and late detection estimates were derived from a study conducted in 10 states, thus our estimates may not be reflective of the entire United States. Despite potential improvements in prenatal diagnosis over time 22 and differing definitions of prenatal diagnosis, our range of prenatal diagnosis estimates from 2000-2005 NBDPS data were consistent with those from a study using national 2006-2012 Society of Thoracic Surgeons data 23 , and our "high" prenatal diagnosis estimates were similar to a recent analysis of Massachusetts data. 22 Our definition of late detected CCHD was based on the timing of the first documented echocardiography confirming the defect, not necessarily the first time echocardiography was ever performed, thus some infants may have been misclassified.…”

“…Despite potential improvements in prenatal diagnosis over time 22 and differing definitions of prenatal diagnosis, our range of prenatal diagnosis estimates from 2000-2005 NBDPS data were consistent with those from a study using national 2006-2012 Society of Thoracic Surgeons data 23 , and our "high" prenatal diagnosis estimates were similar to a recent analysis of Massachusetts data. 22 Our definition of late detected CCHD was based on the timing of the first documented echocardiography confirming the defect, not necessarily the first time echocardiography was ever performed, thus some infants may have been misclassified. However, our overall estimate of late detection is similar to that of a study of a cohort of Florida births, in which the authors defined late detection as diagnosis after birth hospitalization.…”

Coarctation of the aorta: Management from infancy to adulthood

“…In the United States, fewer than 1 in 4 patients with isolated coarctation requiring neonatal intervention are diagnosed prenatally [15,16] . Moreover, approximately 30% of neonates with coarctation remain undiagnosed upon discharge after delivery [17] . For these reasons, many physicians advocate for newborn pulse oximetry screening programs, which increase the likelihood of detecting lesions like coarctation before ductal closure [18,19] .…”

Neonatal screening for life-threatening conditions persistent – pulmonary hypertension in newborns and critical congenital heart disease – by the method of pulse oximetry

“…Успешное пре-натальное выявление этих пороков с помощью уль-тразвуковой диагностики обеспечивается примерно только в 50% случаев. Даже в клиниках, где приме-няют аппарат ультразвуковой пренатальной диагно-стики экспертного класса и получают изображение сердца плода высокого качества, случаи недиагно-стированных критических пороков сердца достигают 10% [3]. В США в 2015 г. был представлен отчет в об-ласти педиатрии, в котором спрогнозирована позд-няя диагностика критических врожденных пороков сердца у 1755 новорожденных, половине из них по-мог бы скрининг пульсоксиметрии [4].…”