Congenital Abnormalities

Every year, thousands of infants and new born babies’ lives are taken away; both from them and their parents. Imagine the pain a family encounters after carrying a child for nine months and once the water breaks, being informed that there is a congenital defect with the new born child. The term alone would horrify a mother without being aware of the definition or even cause of the problem the child has encountered. A congenital defect is a birth defect that can be defined as problems that occur while a fetus is developing in the womb. Congenital defects can affect the way the body looks or functions and range from mild to severe. Some defects such as cleft lip or palate can be easily and safely treated, however, defects such as Down syndrome, heart or brain defects, and things along those lines may need life-long treatment to manage. The most severe congenital defects prove fatal and lead to infant death. In 2005, 5,571 infants died as a result of congenital defects. Birth defects are generally grouped into one of three major categories, structural or metabolic, congenital infections, or “other.” Being that this is such a broad break down of categories, it is made evident that not only is it unclear whether a child is born with an abnormality until various tests are done to come to the conclusion that there may be something wrong with a child. Structural or metabolic abnormalities include heart defects and neural defects where some part of the body, internal or external, is missing or malformed. Recessive genetic diseases which are diseases that result from the inability of cells to produce and enzyme needed to change certain chemicals into others to carry substances throughout the body. Most children with a metabolic birth defect do not have any visible abnormalities, but metabolic defects are usually harmful or can be even fatal. Metabolic defects include Tay-Sachs disease, a fatal disease that affects the central nervous system, and phenylketonuria (PKU), which affects the way the body processes protein.
Congenital infections are infections the baby can be born with, such as rubella, cytomegalovirus (CMV), or any sexually transmitted diseases, however, none of these affect 100% of babies whose mothers are infected during pregnancy. If the mother is infected during early pregnancy, rubella carries the highest risk for birth defects because of nearly universal immunization in the United States, rubella is very rare and the congenital rubella syndrome is almost never seen. On the other hand, CMV is probably the most common congenital infection and may be associated with intellectual disability (mental retardation) and hearing loss.
Other causes of birth defects include alcohol abuse by the mother. Although a few medications, such as medicines used for epilepsy, are associated with increased risks for certain birth defects, most commonly prescribed drugs are not associated with a significant risk of birth defects.

http://dying.about.com/od/pediatriccare/tp/leading_causes_infant_death.htm http://www.cdc.gov/cmv/congenital-infection.html http://articles.cnn.com/2006-05-08/health/mothers.index_1_mortality-rate-death-rate-world-s-mothers?_s=PM:HEALTH
http://kidshealth.org/parent/system/ill/birth_defects.html#