Birth Defect Essay Paper

Humans are diploid organisms, having two copies of each gene.

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This graph provides a snapshot view of structural defects at one place and time: A 2008 investigation in Atlanta, Georgia, determined that the distribution of birth defects was not even throughout the population, with the prevalence differing by both gender and race/ethnicity.

However, the higher prevalence among males decreased when defects that occur almost exclusively in males (such as hypospadias) were excluded.

Upper limb reduction defects are estimated to be about twice as common as lower limb reduction defects, with an annual prevalence of four out of every 1000 live births within the US (upper) and two out of every 1000 live births (lower).

Structural defects affect the formation of parts of the body and are defined by physical abnormalities in one or more parts of the body.

The March of Dimes estimates that six percent of all newborns are born with a serious genetic or partially genetic birth defect globally.

Because birth defects are not consistently identified and recorded across locations and time periods, summaries of prevalence and trends are elusive.

The inheritance pattern of X-linked and autosomal defects is dependent on their dominance.

According to the World Health Organization, a critical window of susceptibility is a "sensitive time interval during development when environmental exposures can interfere with physiology of cell, tissue, or organ." These windows include periods in which cells are growing rapidly, tissues are forming, and the young body is still without most protective capabilities, such as an immune system, blood brain barrier or DNA repair system.

Babies with PKU cannot process phenylalanine, an amino acid (a building block of proteins) which then builds up in the blood and causes brain damage.

PKU is routinely detected with newborn screening tests, so affected babies can be placed on a special diet that prevents intellectual disability.


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