Different Types of Genetic Testing: Which Are Right For You?
Pregnancy is exciting, but it can also be challenging. In fact, you may be overwhelmed by the many options for genetic testing during pregnancy that exist. These tests can provide valuable insights into your baby’s health.
But which ones are right for you?
Although genetic testing is not required, it can offer valuable insights into your baby’s development, helping you make informed decisions about their care. In this article, we’ll explore the different types of genetic testing and discuss key factors to help you determine if it’s the right choice for you.
At Chapel Hill OBGYN, we have cared for women through all stages of their lives, whether they are going through menopause or having their first baby. We can help you determine which genetic tests may be right for you. We believe that education is an important part of healthcare, and we want to empower you to be a partner in your healthcare. We will always take time and listen to you. Just simply contact us to schedule an appointment.
What Are the Different Types of Genetic Testing During Pregnancy?
Diagnostic Testing
This type of testing can confirm a genetic disorder in patients who may have symptoms. Some examples are cystic fibrosis or sickle cell anemia. We may suggest it if you have symptoms of these diseases or you have relatives who have a genetic illness.
Carrier Screening
Sometimes, you may be carrying a gene that can cause a serious health problem—even if you don’t show any symptoms. If you are planning to get pregnant and someone in your family has a genetic condition, we ask that you consider testing to see if you are a carrier of the disorder.
Prenatal Testing
Through this type of testing, we can monitor your developing baby for any genetic conditions. This can include both non-invasive testing and procedures like amniocentesis. Following, we’ll take a closer look at some of the examples of prenatal testing:
- Amniocentesis involves using an ultrasound to guide a small needle into the uterus to gather a small amount of amniotic fluid. The ultrasound shows us the exact location of the baby so that the baby is not harmed during the procedure. Like other forms of genetic testing, this is completely optional, and we believe whether or not you decide to have it should be your personal decision.
- Non-invasive prenatal testing, where we take a sample of your blood and this is analyzed for DNA. This can detect the likelihood that your baby may develop certain diseases. However, it is not a diagnostic tool. It only determines the risk.
- Chorionic villus sampling (CVS) is a test where we take a placenta tissue sample and send it to the lab to be examined. It’s performed by either placing a tube through the cervix or using a small needle through your abdomen.
We know that thinking about some of these tests may make you anxious. After all, you’re already facing the challenges of being pregnant! We want to assure you that we have performed these on hundreds of patients, and we’re here to set you at ease. If you’re nervous, please speak with us. We’re members of your healthcare team, and the well-being of you and your baby is our top priority.
Is Genetic Testing During Pregnancy Necessary?
No. Genetic testing during pregnancy is optional.
The decision to get genetic testing is intensely personal. Your medical history, beliefs and past experiences all play a role in the decision-making process. We will work with you to be sure you have the education you need to make informed choices, and as members of your healthcare team, we will respect those choices.
Not sure if it’s right for you? Some things you may want to consider are:
- Your risk factors, especially if someone in your family has a genetic illness.
- Your race or ethnic group because some are more likely to develop certain conditions.
- Your age–if you are over 35, you may want to examine the benefits of testing.
We want to stress that while genetic tests can be very accurate, they are not perfect, and they are not used as a diagnostic tool. They cannot predict with 100% certainty whether or not your baby will develop a condition. No test is perfectly, absolutely accurate.
What Diseases Can Be Detected Through Genetic Testing?
There are dozens of diseases that can be detected through genetic testing during pregnancy. We’ll name a few of them.
Genetic testing can detect inherited disorders such as sickle cell disease, cystic fibrosis and Tay-Sachs disease. It can also detect diseases such as:
- Down syndrome
- Edwards syndrome (a condition that causes developmental delays, heart defects and issues with the kidneys)
- Patau syndrome (A condition causing severe physical as well as intellectual disabilities, cleft palate, heart defects and even abnormalities within the brain.)
- Huntington’s disease
- Spina bifida
- Muscular dystrophy
Not Sure Which Genetic Tests You Need? Let Us Guide You Through the Process
At Chapel Hill OBGYN, we recognize that every pregnancy is different and every journey unique. We understand that you may have certain philosophies or beliefs about genetic testing, and we respect that. You will never feel pressured into doing something that makes you uncomfortable, and we’ll always take time to answer your questions because we are partners in your care.
If you’re considering getting pregnant, or if family history causes concern for your growing baby, we encourage you to schedule an appointment with us.
The content within this article and others on this website is only for educational purposes and should not be considered as medical advice. For any questions or concerns, please consult with your healthcare provider.
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American College of Obstetricians and Gynecologists, “Prenatal Genetic Screening” https://www.acog.org/womens-health/faqs/prenatal-genetic-screening-tests
Johns Hopkins Medicine. “Common Tests During Pregnancy.” https://www.hopkinsmedicine.org/health/wellness-and-prevention/common-tests-during-pregnancy
