What Tests Should I Have?
There are two main types of genetic screening tests. One is a screening test that will tell you the chances that your baby has aneuploidy. An aneuploidy is the presence of an abnormal number of chromosomes in a cell, like for example, cells that have 45 – 47 instead of the normal human cell number of 46. Therefore the fetus has one or more extra or missing chromosomes. This condition can lead to a nonviable pregnancy, congenital birth defects, and other functional abnormalities.
Screening tests are usually offered in the first or second trimester.
The second type of test is a prenatal diagnostic test. It will confirm whether your child actually has certain disorders. This particular test is conducted on the fetus or placenta, and there is some risk of miscarriage.
Women can also have genetic tests before they become pregnant. These tests will determine if you or your spouse have a recessive gene that would result in congenital abnormalities, like Down Syndrome. Many people are carriers, but there is a problem only when their partner has the same carrier status.
If you both have the same gene, you have a 1 in 4 chance your children will have the condition.
How Accurate Are Genetic Tests?
Screening tests are not perfect nor are they 100% correct. As with any testing, there is the possibility of false-positives, and false-negatives. If a test shows a problem when there actually is not one, this is a false-positive. If one shows no problems when in fact there is, this is a false-negative.
Talk with DeKalb Women’s Specialists about the rates for each to give you some perspective.
What Else Should I Look At?
Here the answers are not so cut and dry. Having genetic testing is your choice. Some parents want to know if they will be raising a child with Down Syndrome so they can prepare necessary resources ahead of time and be ready to deal with their needs.
Some other parents prefer not to know anything at all.
Other parents may be torn about what to do if the risks are high, or they make a decision to terminate the pregnancy.
That is why it’s advisable to have genetic screening tests before you become pregnant. It gives you time to make early decisions, and not wait until you are already pregnant.
Contact DeKalb Women’s Specialists about genetic testing if you are thinking about becoming pregnant.
As always, if you have any further questions or would like to schedule an appointment, please call (404) 508-2000.