Paternal smoking before conception has been associated with an increased risk of birth defects in offspring. [23] A congenital metabolic disease is also called congenital metabolic error. Most of them are monogenic defects that are normally inherited. Many affect the structure of body parts, but some simply affect function. Current MGDb estimates suggest that more than 5 million births worldwide are currently affected by a congenital disease each year, resulting in more than 400,000 fetal deaths, 2.5 million deaths under 5 years of age, and 2 million survivors with significant disability after 5 years.4 Until now, examination of the adverse consequences of congenital disorders has focused on reducing mortality. Prevention and management of disability requires at least the same attention, because as access to more effective care increases, the number of survivors with disabilities continues to increase and the need for services for persons with disabilities increases worldwide. If you are an expectant parent, talk to your doctor about your baby`s risk of congenital disease. They can help you understand screening and treatment options and guide you for future care. Congenital heart defects can occur when one of these chambers or valves does not develop properly while a baby is in the womb. When the blade (bone arch) does not fully develop to the spine, it is called spina bifida and it is the most common congenital disease.
About 3% of newborns have a “serious physical abnormality,” that is, a physical abnormality that has aesthetic or functional significance. [95] Congenital physical anomalies are the leading cause of infant mortality in the United States, accounting for more than 20% of all infant deaths. It can be difficult to identify the exact cause of a birth defect because one or more factors can affect a baby`s development. A congenital disease is a condition that is present from birth. Congenital disorders can be hereditary or caused by environmental factors. Their effects on a child`s health and development are not always serious and can sometimes be quite mild. However, a child with a congenital disease may have a disability or health problems throughout their life. Previous international policy recommendations have focused on the prevention of congenital environmental disturbances, as public health initiatives, including vaccination, micronutrient supplementation, prevention of harmful exposures, and appropriate antenatal care, can reduce their prevalence by 90% or more. We estimate that their global prevalence at birth has decreased by about 50% as a result, so that they now account for about 15% of total congenital disorders. In contrast, the much larger group of constitutional disorders has been relatively neglected in public health policy, although their importance becomes evident when other causes of early mortality and disability are controlled and countries are in epidemiological transition. The greatest challenge remains to develop effective strategies for the prevention and treatment of this large and diverse group of disorders.
The articles in this special issue show that MGDb estimates of birth prevalence and outcomes of congenital disorders are based on a strong evidence base and should be considered by public health decision-makers worldwide.
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