Introduction: Since the origin of Medicine in 4th BC. Century research has taught us that learning and practicing preventive medicine is properly the best method to prevent disease from happening in the first place. Preventive health care must be planned and executed ahead of time, even when illness/ disease, is absent, especially for those that are common and fаtal. Among neonates and infants, congenital heart disease (CHD) is responsible for the largest proportion of mortality caused by birth defects. Actual numbers of patients and mortality resulting from CHD reportedly is increasing. In the developed world the treatment of CHD has escalating costs for health care systems and private covered patients, while in low-income countries it is not always available. Prevention is urgently needed to tackle the increasing needs.
Aim: To present the current practice in preventing/early detecting CHD and justify why pulse oximetry is the best available, early detecting postnatal screening test we currently have.
Methods: The existing in use preventing/early detecting methods for avoiding or early diagnosing CHD are: 1. Eliminate the maternal risk factors by obtaining a good level of health and medical surveillance during pregnancy. 2. Avoiding teratogenic agents, 3. Detecting risk factors from Family History, 4. Delivering a balanced Nutrition during Pregnancy 5. Obtaining at least an experienced 4-chamber view and outflow tracts imaging during the 20-weeks anomaly scan. 6. Fetal Echocardiography when indicated 7. Postnatal evaluation by experienced Pediatricians. 8. Pulse Oximetry, screening test after 72 hours post-delivery in term babies. 9. Hyperoxia test when indicated.
Conclusion: Although CHD’s are the most common, high morbidity and mortality, congenital malformations, we still lack a single, easy to apply, non-invasive and low-cost screening test, for early detection. The current preventive methods must be combined to counterbalance the CHD prevalence. Meanwhile, they are costly and partially accessible. The most advantageous method for minimizing CHD deaths worldwide seems to be currently, pulse oximetry combined with clinical assessment.
Original publication: Petropoulos AC. Prevention and Early Detection of Congenital Heart Defects. Where do we Stand. J Cardiol 2018, 2(1): 000111.
The genetics of folate metabolism and maternal risk of birth of a child with Down syndrome and associated congenital heart defects
