| خلاصه مقاله | Few questions are as poignant as those that many parents pose after finding out that their baby has a serious heart defect—“what will happen to my child?” (Outcome), “why did this happen?” (Causation), and, at some point, “what can we do so it will not happen again?” (Prevention).
Changes in the total prevalence of congenital heart defects (the sum of live births, stillbirths, and pregnancy terminations) will depend on the balance of risk factors and protective factors in a population. Overall, the world is not getting healthier. Important risk factors for congenital heart defects are increasing. Diabetes, several chronic illnesses, and obesity are affecting more (and sometimes younger) people in many developed and developing countries. Also, demographic trends suggest an increasing maternal age at conception in many developed countries. This shift would lead to more pregnancies at higher risk of maternal-age dependent chromosomal syndromes (e.g., common trisomies), of which congenital heart defects are a common finding. The prevalence at birth of these heart defects would also depend on the concurrent use of fetal diagnosis and pregnancy termination. As a risk factor, the population distribution of maternal age is difficult to modify, though education and preconceptional counseling could have an impact in individual situations.
Effective primary prevention starts with characterizing modifiable causes of congenital heart defects in human populations:
Diabetes or retinoic acid, obesity, lithium, rubella, fever and flu, maternal PKU, thalidomide, epilepsy and antiepileptic drugs
Congenital heart defects are common, costly and critical, and more so than they ought to be because prevention is lagging. Prevention promises to be an additional and powerful tool to improve survival and decrease the personal and societal impact of congenital heart defects. However, making prevention work requires greater investments in research—finding new causes, and implementation, reducing known causes. Known genetic and environmental factors still account for
a minority of cases of congenital heart defects. Gene–environment interactions, commonly posited to cause most of the remaining cases, have so far eluded detection.
Nevertheless, some environmental and maternal factors have been well characterized. These should be targets of comprehensive prevention interventions. Maternal chronic illness, immunizations, medications, and nutrition appear to be the targets with greatest potential impact, in terms of preventing not only congenital heart defects but also many other adverse fetal and maternal outcomes.
Because of how early the embryonic heart develops, the cornerstone of prevention is preconception care—an integrated set of interventions aimed at lifelong health promotion and addressing multiple risk factors.
Implementing these interventions effectively will require not only individual education and clinical interventions, but also long-term, population-based approaches that address the deeper social and economic determinants of health. The challenges are many: However, the evidence is available and the benefits can be considerable, in terms of health, wealth, and lives. |