With at-home genetics testing kits being a popular item in recent years, it has become easier and easier to discover more about your genes. When on the journey of conception, what are the pros and cons of genetic screening? Is it a positive or negative experience? Read below to learn more about genetic testing before pregnancy, including who should be screened, which disorders are the most common, and what to expect from results.
What is Genetic Testing for Pregnancy?
Carrier screening, the earliest phase of genetic testing for pregnancy, is the process of examining saliva or blood tests from prospective parents to indicate if any genetic abnormalities are present in their DNA. These tests are done before pregnancy to help determine if there is a chance a parent will pass down affected genes to their child. Some people have abnormal genes but do not show any symptoms of a condition, making them a carrier for the disorder. This is why genetic testing before pregnancy can be helpful when trying to conceive.
Genetic testing can also be done during pregnancy to see if any abnormal genes are present in the baby. Genetic screening and disorder identification during pregnancy can be done in a number of ways, including ultrasound imaging, blood tests from the baby, blood tests from the mother, and samples from the placenta or amniotic fluid.
These tests are performed by your doctor or can be completed with an at-home test. Working with your doctor will ensure the results of your test are understandable and can help you determine next steps in your pregnancy journey.
Who Should Be Screened?
Your family genetic history and ethnic background are two of the main factors in determining if you should consider genetic testing before pregnancy. If a genetic disorder runs in your family that may be passed down in pregnancy, it is advised to get screened to see if you are a carrier of the abnormal gene. In addition, certain ethnic groups are at an increased risk of certain genetic diseases:
- African American: Sickle cell anemia and thalassemia
- Ashkenazi Jewish: Cystic fibrosis, Tay-Sachs, Canavan, and familial dysautonomia
- European Caucasian: Cystic fibrosis
- French Canadian: Tay-Sachs and cystic fibrosis
- Mediterranean: Sickle cell anemia and thalassemia
- Southeast Asian: Thalassemia
In most cases, genetic disorders are recessive and only occur when both parents pass on the gene abnormality. If one parent tests negatively for genetic disorders, your child will not inherit the condition and the second parent does not need to complete genetic testing. If both parents are carriers and test positive for the same genetic abnormalities, there is still only a 25% chance the genetic disorder will be passed down.
What Are the Most Common Genetic Disorders?
Genetic screening capabilities are growing as technology improves, and new tests can find abnormalities in genes for hundreds of both common and rare genetic disorders. However, standard genetic testing before pregnancy screens for these 6 common genetic disorders:
- Cystic Fibrosis: Life-threatening condition leading to lung damage and digestive problems
- Fragile X Syndrome: Can cause developmental problems, including learning disabilities and mental retardation
- Sickle Cell Disease: Blood disorder leading to anemia, a weakened immune system, and other health issues
- Spinal Muscular Atrophy: Affects part of the nervous system that controls voluntary muscle movement
- Thalassemia: Blood disorder that causes anemia and problems with the liver and bone growth
- Tay-Sachs Disease: Life-threatening disorder of the central nervous system
What Are the Pros and Cons of Genetic Testing Before Pregnancy?
The amazing technology of genetic testing has allowed many prospective and expecting parents to plan for the future of their families. Of course, there are pros and cons to genetic testing, and it is important to consider how certain results may affect your pregnancy journey.
Genetic Testing Pros
Getting insight into the health of your future baby can be very valuable information. The process is very simple and has a fairly short turnaround time, making the information easily attainable. Learning family history and any potential medical issues can be a helpful tool when family planning.
Genetic Testing Cons
Screening for genetic abnormalities is merely a predictive tool, so results cannot be fully relied on. False positives are possible, and there is no way to truly determine if genes will be passed down or not. Some say ignorance is bliss, and knowing potential risks may add a level of stress to your pregnancy, or may lead you to reconsider pregnancy at all.
Should I Get Genetic Testing During Pregnancy, Too?
If you have decided genetic screening is right for your pregnancy journey, then yes! Genetic testing before pregnancy is ideal, but if you are currently pregnant you can still run tests. When pregnant, genetic testing includes tests for your baby’s health. Testing can be used to identify conditions such as down syndrome, trisomy 18, trisomy 13, sex chromosome issues, and spine and brain problems.
When considering genetic testing before pregnancy, speaking with your doctor can help make the experience a more understandable and pleasant one. Family planning is a big task, so reach out to Red Rock Fertility Center to learn more about genetic screening and how to grow your family.
