Down syndrome happens once every six hundred ninety or so births. It is a condition that causes intellectual and physical delays. Normal people have 46 chromosomes and a person with down’s has one extra. It is the most common genetic chromosomal condition. It can occur to any race of people. Down’s is diagnosed either right after birth or during the pregnancy if the right tests have been taken.
Diagnosing Down Syndrome
Pregnant women can opt to have a couple of tests run to come to a diagnosis. One is a screening test, which basically would rule out the risk. Screening tests includes a blood test call the Triple Screen done in the beginning of the 2nd trimester. Another is an ultrasound which is normally done to confirm the results of the other screening test. Ultrasounds looks closely at the fetus, measuring physical features looking for known Downs traits. Screenings are not accurate, there have been many false results on either side.
A diagnostic test will absolutely give the answer of whether or not the fetus has it. These tests are risky, they can cause miscarriage because they are very invasive. They are an amniocentesis which is done anywhere from three to five months in the pregnancy where they place a needle through the abdomen and gather a sample of the amniotic fluid. A CVS or chorionic villus sampling is done between two and four months, and it is done by taking a small sample of the placenta. A Percutaneous umbilical blood sampling or PUBS is done after the fifth month and a sample of blood is extracted from the umbilical cord.
Diagnosing down syndrome after birth is done by observing the physical characteristics. Downs babies will have a slightly flattened face, eyes that slant upward, one crease in the palm of the hands, and low muscle reflexes. A chromosome study of the blood and tissue cells can further confirm the diagnosis.
What Causes This Syndrome?
They really don’t know “why” it occurs, but it’s when the cell division goes wrong, called a nondisjunction. This happens during conception, a genetic chromosome issue. Some believe the instance of downs is higher if the mother is older. The facts show that a whopping eighty percent of down syndrome children are born to women under the age of 35.
Born With Down’s
Babies born with it will have developmental delays both physical and mental. With encouragement and education they can be helped to discover their unique talents. The degree of impairment vary from child to child. The key is in giving them early intervention including developmental, physical and speech therapies. Many Down’s children go on to attend normal schooling with a little help. Some even make it through actually graduating high school, while others may require more specialized teaching through special education classes.
These children may have more health issues because of the syndrome. They need to have an echocardiogram done at birth to check for congenital heart defects. Forty percent of children have cardiac issues. Some can be taken care of with surgery and others just need to be watched. There are other health issues to be aware of such as vision and hearing problems, thyroid issues and infections with respiratory. Simply giving them proper medical care will help them to be healthy and live a good long life.