Down Syndrome Research Paper

What is Down syndrome?

Down syndrome is a common birth defect that is genetic. It is a chromosomal disorder caused by an error in cell division that results in an extra 21st chromosome. Most children born with Down syndrome have some level of mental retardation.

The most common form of Down syndrome is known as trisomy 21, and it’s when individuals have 47 chromosomes in each cell instead of 46.

“Each year in the U.S., approximately one in every 800 to 1,000 newborns has Down syndrome. This results in approximately 5,000 children born with Down syndrome each year.” http://www.webmd.com/children/guide/understanding-down-syndrome-basics Three types of Down syndrome

Trisomy 21

95% of people with Down syndrome have Trisomy 21

Three copies of chromosome

 Genetic ultrasound– is performed between 18 – 20 weeks and is a detailed ultrasound combined with blood test results http://www.medicalnewstoday.com/articles/145554.php (2 slide) Diagnostic tests include:

 Chorionic villus sampling – is an analysis of a tiny sample of placenta obtained from a needle inserted into the cervix or the abdomen between 8 – 12 weeks

 Amniocentesis – is performed between 15 – 20 weeks and is an analysis of a small amount of amniotic fluid obtained from a needle inserted into the abdomen

 Percutaneous umbilical blood sampling – is performed after 20 weeks and is an analysis of a small sample of blood from the umbilical cord obtained from a needle inserted into the