Each chromosome in the DNA strand has a job or task that helps the body function, for chromosome 18 its job is to make proteins. When the chromosome 18 has three copies instead of two, then Edwards syndrome is formed. Edwards syndrome or trisomy 18 is the second most common trisomy disease with trisomy 21 being the most common. In every 5,000 babies born 1 will be born with Edwards syndrome. More than 20 to 30% of the infants that make it to full term will die within the first week to month. Of the percentage effected, girls are at a greater risk of being born with the syndrome than boys making up 80% of the effected. Similar to down syndrome, people born with Edwards syndrome are born with an extra chromosome 18 in the DNA strand that disrupts …show more content…
The CVS is conducted within the first 11 to 13 weeks of pregnancy, in this procedure a sample of cells is taken from the placenta and tested for genetic defects. Amniocentesis is only performed in women over 35 and is done 15 to 20 weeks into pregnancy. It consists of 20 mL of amniotic fluid getting extracted from the womb because this fluid has cells shed from the baby and is tested for different conditions. In some cases, the mother uterus is larger because the presence of extra amniotic fluid and at birth the placenta is small. For some, Edwards syndrome is only detected after the infant is born.
Infants born with Edwards syndrome show immediate signs of a disorder at birth with physical abnormalities. For example, infants born with Edwards syndrome have curved finger print patterns and a short breast bone that is visibly on x rays. The best way for doctors to confirm a case of Edwards syndrome is by karyotyping. This requires the baby’s blood to be drawn and have the chromosomes examined under a microscope. The use of stains allows each individual chromosome to be identified with chromosome 18 having three