Pregnancy and childbirth come with a million questions for new parents. When you find out you’re pregnant, there are many decisions to make when it comes to knowing about your unborn child. Whether its determining the biological sex of the child, or undergoing genetic screening, there are many things to consider.
However, just as the decision to have children is an incredibly personal one, so are the choices that accompany these decisions. While genetic screening is typically fairly low risk, some tests do carry a higher level of danger. Furthermore, discovering medical complications during prenatal testing can add to uncertainty.
There is no hard and fast right or wrong answer when it comes to genetic testing. Understanding the pros and cons about the different types of tests can better arm you with the necessary tools to make the best decision for yourself and your growing family.
The Different Types of Tests
Before you start researching prenatal genetic testing, it’s important to first distinguish between the two different types of assays that are available. These include screening tests and diagnostic tests. While they may initially seem quite similar, they are actually fairly different when it comes to what they reveal and how invasive they are.
A prenatal screening test, for instance, is significantly less invasive than a prenatal diagnostic test. This type of test can help pinpoint the likelihood of your unborn child having genetic or chromosomal disorders. This includes NIPT (non-invasive prenatal testing) via a blood test (which can contain your baby’s DNA in it), ultrasounds, and prenatal cell-free DNA (cfDNA) screenings.
Conversely, a diagnostic test can be significantly more invasive, and it’s generally only employed if a screening test suggests a higher likelihood of complications in your child. This type of diagnostic test includes amniocentesis testing and chorionic villus sampling, both of which may increase the chances of a miscarriage. While they can help provide more definitive results, loss of pregnancy remains a very real risk.
What Questions Should You Ask?
There are many questions you might want to ask yourself before electing to undergo genetic testing during pregnancy, including how to interpret the results. This includes understanding what you may decide to do if you determine that your child does carry genetic or chromosomal anomalies.
For these reasons, consulting with a genetic counselor both before and after your screening tests is essential. Your counselor can help you break down the results of the testing and give you guidance about what your next steps may be. Should issues exist, they can give you the tools and resources to make any necessary decisions about them. Questions you may ask them include:
- What do my results mean? It can be confusing to try to break down the results of your prenatal genetic screening, especially if the answers are ambiguous. A genetic counselor can help you better understand them.
- Can my testing harm my unborn child? As you already know, some tests can lead to complications that may result in the loss of the pregnancy. NIPT is a safe option, but you should discuss this with your healthcare provider before you move forward.
- Are the results really accurate? While prenatal genetic tests are fairly accurate, there is a slight margin of error when it comes to the results. Both false positive and false negative outcomes can arise, and it’s best to understand this variability before making any treatment decisions.
- What if my child has anomalies? All parents want to find out that their baby is going to be healthy, but discovering that there are complications can cause anxiety. Your counselor can help you navigate these feelings.
- What changes do I need to make? It may be quite reassuring to know that measures you take during pregnancy can help affect the outcome of childbirth and prevention of these complications may be possible.
Making the Best Decision
As you move through the days and weeks and months of your pregnancy, you may find yourself wanting to learn as much about your unborn child as possible. On the other hand, you may want to wait until after your child is born before taking action. While the decision is highly personal, knowing that these tests are available can be both incredibly empowering and reassuring when navigating the uncertainty of pregnancy.
Photo by Viktoria Matrosova
