Prevention and Congenital Heart Disease

ObjectiveRecurrence risk of congenital heart disease (CHD) in families with an affected first-degree relative is increased as compared with the general population. Advances in genetic testing and evidence that preconceptual folic acid supplementation may decrease risk of CHD warrant preventative counseling for at-risk families. Our goal was to document patterns of preconceptual folic acid supplementation and recurrence risk counseling in at-risk families in order to identify opportunities for improved preventative care.DesignMothers referred for a fetal echocardiogram were prospectively enrolled. Cases were defined as mothers deemed to be at higher risk of having an affected fetus with CHD given an affected parent or affected previous pregnancy with CHD. Controls were defined as mothers with no prenatal risk factors. Mothers completed a validated questionnaire assessing use of folic acid supplementation and receipt of recurrence risk counseling. Chi-square analyses were performed to analyze questionnaire responses and demographic data.ResultsA total of 314 subjects participated (controls = 216, cases = 98). Cases took preconceptual folic acid supplementation more often than controls (P < .001), but only 55% started preconceptually. Maternal advanced education and counseling (P < .001) were associated with preconceptual supplementation, whereas complexity of CHD in the relative was not. While 70% of cases received some recurrence risk counseling, those with advanced education and complex CHD in the affected relative were more likely to receive counseling. Few at-risk cases interacted with genetic services (19%).ConclusionsAt-risk mothers with lower education are less likely to take preconceptual folic acid supplementation or receive recurrence risk counseling. Health care providers should proactively provide this information to all at-risk patients and develop collaborations with genetic services