“Plans are nothing, planning is everything.” – Dwight D. Eisenhower
The start of the COVID-19 pandemic certainly disrupted daily life for most of the world. Since then, there has been an emphasis on creating policies and strategies to keep the world as safe and healthy as it can be. As states begin to relax stay-at-home orders, people are planning for their futures in the new world we are living in. For soon-to-be parents and those thinking about becoming parents, planning for their families is especially crucial.
Getting key insights into your health and the health of your baby doesn’t have to be difficult, but it does take a little bit of planning. An important way to start preparing for the growth of your family is to start thinking about genetic screening. How? Find out below!
1) Educate yourself about genetic tests and screens available to you before and during a pregnancy
If you are currently pregnant or thinking about becoming pregnant, carrier screening can help determine whether you, your partner, or donor carry inherited conditions, such as cystic fibrosis, that could affect your family and have a significant impact on how you get pregnant or how and where you deliver.
Watch a video to learn more about carrier screening by texting “CARRIER” to 99150 to receive educational materials from Myriad, our partner in carrier screening.
- Being a carrier is very common. It means that you inherited a normal gene from one parent and a gene with an irregularity, also called a mutation, from the other. As long as you have one normal copy of a gene, you typically don’t have any symptoms, so it’s very rare that someone knows they are a carrier.
- If both parents are carriers for the same condition, there is a 1 in 4 (25%) chance for each pregnancy that their child will have the condition. Some conditions can be caused when only the mother is a carrier, such as fragile X syndrome.
- The conditions included on carrier screening panels are serious conditions most people would want to know about either before conceiving or while pregnant so that they can prepare. These include:
- Conditions where early treatment can make a difference (such as PKU)
- Conditions that cause intellectual disability (such as fragile X syndrome)
- Conditions that shorten lifespan (such as Bloom syndrome)
- Conditions where there are limited to no treatment options available (such as Tay-Sachs disease)
- A simple blood or saliva sample is all that is needed to test to see if you are a carrier.
If you are currently pregnant, you can find out through noninvasive prenatal screening (NIPS) if your baby has an increased chance for certain chromosomal conditions, like Down syndrome.
Watch a video to learn more about NIPS by texting “NIPS” to 99150 to receive educational materials from Myriad, our partner in NIPS.
- Normal developmental processes cause small pieces of DNA from a baby’s placenta to enter the mother’s bloodstream. NIPS analyzes these fragments.
- All that is needed to perform NIPS is a simple blood draw from your arm, causing no increased risk to you or your pregnancy.
- The majority of NIPS results will indicate a low chance for the baby to have any of the conditions screened for. In the unlikely event you get a screen that shows an increased chance for one of the conditions screened for, you will be offered a diagnostic test to confirm or rule out the condition.
2) Talk with your partner
- Genetic screening would impact both you and your partner. Take time to discuss this information together.
- Some questions to consider:
- Do we have any known genetic conditions in the family that we are concerned about?
- What if we are both carriers for the same condition?
- How would having this information help us plan for our family?
- If anything is identified on screening, how would we share that information with our family?
3) Plan your visit
- The decision to pursue genetic screening is a personal choice that should be made between you and your partner. Talk to your provider about any questions you have and how the decision to pursue genetic screening may impact your pregnancy care and management.
- If you are speaking with your provider in person, being prepared with questions helps to limit the amount of time spent face to face.
- Some questions to consider:
- Should my partner and I have carrier screening at the same time?
- How would you inform us of our results?
- What are the next steps if any of the screening comes back positive, showing an increased risk? How is the management of a pregnancy impacted?
- What does a negative screening result mean?
There is no doubt that the world looks a little different now than it did before COVID-19, but as we begin to emerge from stay-at-home orders, one thing is clear: planning is everything!