Down Syndrome is a disorder that occurs within the typically normally genetic structure within the cells. When you look at a normal human cell there are 46 chromosomes. In someone with Down Syndrome there is 47 chromosomes instead of 46. The reason for the extra chromosome is due to an extra copy of chromosome number 21.
When examining the chromosomes, it was discovered that it can be a partial or complete copy. The variance in how much of the chromosome is copied, individual growth and development, and environment can have an impact on how severe the disorder is from person to person. In most cases, no Down Syndrome case is “typical”, however some do share similarities.
Statistics about Down Syndrome
While no case is typical, it is important to note the statistics that have been discovered about the people affected and their parents. If you have a good understanding, you will be able to move forward and make the best decisions possible when it comes to both you and your children.
First, understand that age of the parent does play a key role in the percentage of a child developing Down Syndrome. In most cases, a 35-year-old woman who is pregnant has a 1 in 350 chance of having a child who suffers from Down Syndrome. After the age of 40, this chance goes to a 1 in 100 chance.
Next, understand that even though it is a genetic disorder it is not hereditary. If you look at the statistics only 1% of all people with down syndrome have a hereditary connection.
Down Syndrome is the most common chromosomal disorder out there. There are around 6,000 cases per year, which breaks down to 1 out of every 700 babies born have the disorder to some extent.
50% of all babies born with this disorder suffer from congenital heart defects, which make preventive measures especially important. Luckily, there are noninvasive tests out there that can help you and your partner discover if there is a chance that your child is going to have Down Syndrome.
Screening tests for the children of expecting parents can give an answer with 99% accuracy.
Why Choose a Screening Test?
If you are considering a screening test to find out if your child could have Down Syndrome you should know why many parents start with this type of test. You should also know that a number of screening tests can indicate Down syndrome including maternal serum testing, ultrasounds and non-invasive prenatal testing for Down’s syndrome. When a screening test is performed it is done to see if there is any indicator of something unusual. If the test comes back negative, parents can have their mind at rest. On the other hand, if a test comes back positive a confirmatory diagnostic test will need to be done to get solid answers and move forward.
The most recent advance in the field of screening tests is the NIPT test; this stands for Non Invasive Prenatal testing and it is is a simple, non-invasive procedure that will help parents determine whether or not there is a chance their child is going to be born with Down Syndrome. It involves a simple blood test on the expecting mother. The blood sample needs to be taken by a doctor, however you have your choice on labs to test the sample. You can either use a third party lab, or the lab offered by your doctor.03 Aug 2017