Variation in Prenatal Diagnosis of Congenital Heart Disease in Infants

Abstract

Background Prenatal diagnosis allows for improved peri-operative outcomes of fetuses with certain forms of congenital heart disease (CHD). Variability in prenatal diagnosis has been demonstrated in other countries, leading to efforts to improve fetal imaging protocols and access to care, but has not been examined across the United States. Objective To evaluate national variation in prenatal detection across geographic region and defect type in neonates and infants with CHD undergoing heart surgery. Methods Cardiovascular operations performed in patients ≤ 6 months of age within the United States and included in the STS-CHS Surgical Database (2006–2012) were eligible for inclusion. Centers with >15% missing prenatal diagnosis data were excluded from the study. Prenatal diagnosis rates were compared across geographic location of residence and defect type using the Chi-square test. Results Overall, the study included 31,374 patients from 91 STS-CHS participating centers across the United States. Prenatal detection occurred in 34% and increased every year from 26% (2006) to 42% (2012). There was significant geographic variation in rates of prenatal diagnosis across states (range 11.8 – 53.4%, p < 0.0001). Significant variability by defect type was also observed with higher rates for lesions identifiable on 4-chamber view versus those requiring outflow tract visualization (57% versus 32%, p < 0.0001). Conclusions Rates of prenatal CHD detection in the United States remain low for patients undergoing surgical intervention, with significant variability between states and across defect type. Further studies are needed to identify reasons for this variation and the potential impact on patient outcomes.

A brief history of fetal echocardiography and its impact on the management of congenital heart disease

“…These are further discussed below.The accuracy of fetal echocardiography as a diagnostic test is influenced by variables that include the clinical risk category of the obstetric population, the ultrasound device capabilities, comprehensiveness of the echocardiographic protocol, and the available expertise. Quartermain and colleagues analyzed prospectively collected congenital heart surgery database comprised of over 31 000 patients in 91 centers in the United States and found only a 34% prenatal detection rate 53. The complexity of cardiac malformation, the gestational age at examination, and maternal habitus also influence the results.…”

Outcomes of Patients with Pulmonary Atresia and Major Aortopulmonary Collaterals Without Intervention in Infancy

“…An increasing proportion of patients with congenital heart disease presenting for treatment in the United States are diagnosed prenatally[26], and by extension likely that this is also true in other industrialized countries. Proponents hope that this allows for efficient referral of fetuses with complicated congenital heart disease to centers of excellence and allows for appropriate stabilization and treatment of these patients in the most stable condition at the optimal time.…”

First-trimester screening for congenital heart disease

“…There was significant geographic variation in rates of prenatal diagnosis across states (range 11.8%-53.4%, P < 0.0001). Significant variability by defect type was also observed, with higher rates for lesions identifiable on four-chamber view than for those requiring outflow tract visualization (57 versus 32%, P < 0.0001) [20]. Although there is progress in detection of CHD prenatally, perhaps an additional step is the development of a tool for the sonographer during the transvaginal nuchal scan to screen for CHD.…”