The Cause and Effects of Down Syndrome
Some people wonder what Down syndrome is. How it is caused, and how it is treated. The causes and effects of Down syndrome is when there is an extra 21St chromosome. The effects include some birth defects and health problems. The physical features are different from someone without Down syndrome.
What is Down syndrome? It is a chromosomal disorder caused by an error in cell division that results in an extra 21st chromosome (Crosta). Down syndrome causes problems with a person’s physical growth that vary by how bad it is. This disease can develop either before or after a child is born. Less than 1,000 pregnancies for mothers less than 30 years of age result in a baby with Down syndrome. For mothers who are 44 years of age, about 1 in 35 pregnancies results in a baby with Down syndrome (Crosta). The only way to have a child with Down syndrome is determined by the mother’s age. 75-80% of babies that have Down syndrome are born to younger mothers. It is believed that a younger woman usually has more children verses an older woman (Crosta).
What causes Down syndrome? Robertsonian translocation occurs when part of chromosome 21 breaks off during cell division and attaches to another chromosome (usually chromosome 14) (Crosta). There are 46 chromosomes in the body. 23 are from the mother and 23 are from the father. When there is another copy or a half copies of chromosome 21, you will have a child with Down syndrome. The most common type of Down syndrome is Trisomy 21. It is where the body has 47 Chromosomes instead of 46 (Crosta). Trisomy 21 is caused by a problem in the cell division called non-disjunction; it leaves a sperm or an egg cell with an extra copy of chromosome 21. 95% of Down syndrome cases are Trisomy 21. 88% of the case are from non-disjunction of the mother’s egg cell (Crosta). The main reason it is caused is that there is an extra copy of genetic material on either all of just part of the 21st chromosome. The remaining 5% of Down syndrome cases are due to conditions called mosaicism and translocation. Mosaic Down syndrome results when some cells in the body are normal while others have Trisomy 21.
How is Down syndrome diagnosed? Diagnostic tests are 99% accurate to tell whether the baby will have Down syndrome and other birth defects. Diagnostic tests include, Chorionic Villus sampling at 8-12 weeks, Amniocentesis at 15-20 weeks, Percutaneous umbilical blood sampling after 20 weeks (Crosta). Another way to diagnose Down syndrome is a screening test. Screening tests do not give a definite answer if the baby will have Down syndrome or not. Screening tests include Nuchal translency at 11 to 14 weeks, triple screen or quadruple screen at 15-18 weeks, integrated screen, and genetic ultrasound at 18-20 weeks (Crosta). Down syndrome can be diagnosed after the baby is born by looking at blood and tissue samples, and the baby’s physical characteristics. It is also standard for pregnant woman older...