Have you been considering genetic testing but not entirely sure of what all is entailed?  If you are concerned about passing on a genetic condition to your child, then you may want to consider some genetic testing options.

What is genetic testing?

Genetic testing is a type of medical test that looks for changes in your DNA. DNA is an abbreviation for deoxyribonucleic acid. It contains the genetic instructions in all living things. Genetic tests analyze your cells or tissue to look for any changes in the following.

• Genes:  Are the parts of DNA that carry the information that is needed to make a protein.
• Chromosomes:  They are the thread-like structures found in your cells. Containing DNA and proteins.
• Proteins: Do most of the work in your cells. Testing can look for changes in the amount and activity level of proteins. If it detects any changes, it may be due to changes in your DNA.

The results of a genetic test can help to confirm or rule out a suspected genetic condition or to help determine your chance of developing or passing on a genetic disorder to your children.  There are more than 1,000 genetic tests currently in use and even more, being developed.  

Keep in mind genetic testing is completely voluntary. Because testing has some benefits as well as its own limitations and risks, the decision about whether to be tested is a personal and very complex one. Your OB-GYN or genetic counselor can help you by providing information about the pros and cons of the test and discussing the social and emotional aspects of testing.

How does genetic testing work?

Generally, genetic disorders happen when someone has two bad copies of a gene, one from each parent. If you have only one faulty copy, you won’t have symptoms of the condition, but you can be considered as a “carrier” for it. Your baby will be born with the disorder only if both you and your partner pass the bad gene onto them.

Your doctor will take a small sample of your saliva or blood during a checkup before you get pregnant – to test if you’re a carrier of a genetic disease. The samples will be sent to a lab for testing. If you use an at-home testing kit, you’ll take the sample and send it to a lab yourself.  If you are already pregnant there are also testing options available during pregnancy.

These tests take a closer look at your DNA for genes that are linked to certain diseases. Standard screening tests check for:

• Cystic fibrosis
• Fragile X syndrome
• Blood disorders such as sickle cell disease
• Tay-Sachs disease
• Spinal muscular atrophy

Newer tests, called expanded genetic carrier screenings, can also find flawed genes for more than 400 other disorders, some of which are rare and have few treatments.

Who really needs to be screened?

If you or your partner have a genetic disorder that runs in the family, your doctor may recommend that you both get a genetic test. They may also suggest testing if you belong to an ethnic group with a high risk of certain genetic diseases, such as:

• Ashkenazi Jewish (Tay-Sachs disease and others)
• African-American (sickle cell disease)
• Mediterranean and Southeast Asian (thalassemia)

If you’re not in one of these groups or you and your partner do not have a genetic disorder that runs in your family – you might not find it necessary to proceed with genetic testing.  

One of the most important things to any new parent is having a happy and healthy baby. At OB-GYN Women’s Centre of Lakewood Ranch, our goal is to ensure just that. Whether you’re looking for advice on getting pregnant or are already expecting, the OB-GYN Women’s Centre of Lakewood Ranch has the obstetrics care you need. Call us today at (941) 907-3008, or request an appointment.