Genetic Testing Before and During Pregnancy: What You Should Know
When Ezra was born, he passed all his newborn screenings with flying colors.
There was no reason for his parents to think anything could be wrong with their perfect newborn son.
However, as Ezra grew, his mother noticed a few things that seemed off.
And at his four month well-child visit, his family received news no parent should ever receive. He had Spinal Muscular Atrophy (SMA), which is the leading cause of genetic death for children under two.
Did you know that August is SMA Awareness Month? SMA is a devastating diagnosis – and 1 in every 50 Americans are carriers for it. Being a carrier means that you have a change in the gene associated with SMA (it’s called SMN1). When two carriers for a disease like SMA have a child together, every child has a 1 in 4 chance of being affected.
Most carriers of SMA don’t have a family history of the disease, and it affects all ethnicities.
While there are different forms of SMA, the most common is the most devastating – the infant will have trouble breathing, swallowing, can’t sit up on their own, and won’t meet their motor skills milestones.
Children with this form of SMA aren’t expected to live past the age of two.
For as common as being an SMA carrier is, it’s something I don’t feel many people talk about. I only know about it because a friend of mine had a daughter who passed away from SMARD, which is an extremely rare form of SMA that includes respiratory distress. I’ve followed her story over the years, and so much of it has brought me to tears to see the pain they’ve gone through with losing their child.
There is a lot of research that has been going on – and the first ever therapy for SMA was recently approved – but there is still a lot of progress that needs to be made.
The Bessey family has raised over $40,000 through the Hearts for Ezra foundation, which they started to help find a cure and more treatments for other babies with SMA. You can learn more about SMA here.
You can be screened to determine whether you are a carrier for SMA. I don’t share this story to scare any pregnant or trying-to-conceive moms out there – I just think that there are a lot of questions about genetic screenings and whether or not you should get them.
So I hope that this post will help you decide whether or not you should get genetic testing for inherited diseases, as well as testing during pregnancy to detect chromosomal abnormalities.
As always, no information in this post or on Clarks Condensed can replace that of a medical professional. ALWAYS consult with your doctor before proceeding.
This is a sponsored conversation written by me on behalf of Counsyl. The opinions and text are all mine.
Should you get genetic testing for inherited diseases?
To be honest, the thought of doing this didn’t even cross my mind before I got pregnant with Jack.
However, I can now see the benefits of doing this – if anything, it can be helpful for helping you prepare for what could happen. I would recommend talking with a genetic counselor, and/or your OBGYN about whether or not you would benefit from genetic testing for inherited conditions (either preconception or early during your pregnancy).
As I mentioned above, 1 in every 50 Americans are carriers for SMA, and most of the children affected come from a family where there is no history of genetic disease. Talking with a genetic counselor can help you decide what getting these tests done would mean for you and your family.
You may also consider genetic testing if you had a child that was born with a disorder and you want to find out if it was caused by genetic abnormalities in you and your spouse/partner.
This information can help you make decisions in the future regarding more children.
What about prenatal genetic testing that looks for chromosomal abnormalities?
When I was pregnant with Jack, I was offered a screening test for certain genetic abnormalities. After talking with a nurse, we decided not to get it. I was young. I had no family history of certain disorders. And the test I was offered had a high false positive rate. So I opted out.
I’ll be honest that getting it done wouldn’t have changed my feelings about my pregnancy, so it was probably better that I didn’t get it done.
However, there are times that this type of prenatal genetic testing can be beneficial.
Here are a few tests that you can get:
- Non-invasive prenatal screening – this is a blood test you can get done as early as 10 weeks. It can help you decide if you want to pursue a more invasive test. The Counsyl Prelude™ Prenatal Screen is one example of this type of test. It’s trusted by medical professionals and often covered by insurance.
- CVS or amniocentesis – these tests are often performed if something comes up abnormal on a screening or ultrasound. They are more invasive but can give you more insight into whether or not your child has a certain disorder. They aren’t required, but they can help you prepare better for what lies ahead. My mom was over 40 when she was pregnant with my little brother – he had some markers for Down syndrome, but she opted not to get the testing done. It’s definitely a personal decision to make with your spouse/partner and doctor. If you already know that you are a carrier for a disease, these tests can be done to see if the baby is affected.
Where can you get carrier screening to detect inherited diseases and prenatal genetic testing for chromosomal abnormalities done? And how much does it cost?
A lot of this varies based on your insurance and what the testing is being done for. For instance, I know that insurance will often cover tests for women that are considered high risk (being over the age of 35 or having a family history).
Beyond that, it will often depend on your insurance. One of the best genetic screening companies out there is Counsyl. They offer both types of genetic screenings and I’m most impressed with their prenatal options. Their tests are very comprehensive and accurate.
For instance, they offer the Counsyl Foresight™ Carrier Screen, which is available for women before and during pregnancy. It’s trusted by doctors across the country, and, as I mentioned, it’s often covered by insurance. All you have to do is have the test ordered by your doctor, give a saliva or blood sample, and you’ll get the results in just a matter of a couple of weeks!
They also have the Counsyl Prelude Prenatal Screen, a blood test that can give you insight into your child’s development as early as 10 weeks. It’s safe and non-invasive. While Foresight looks at inherited conditions such as SMA, Prelude can inform you on your likelihood of having a baby with a chromosomal condition which mostly occurs by chance – such as Down syndrome.
What if you are a carrier for a disease?
This is a very personal decision. I believe that knowledge is power, and if you and your spouse/partner are at risk of passing on a genetic disorder, knowing before you conceive can help you make decisions on how to approach pregnancy.
One thing to keep in mind is that if both you and your spouse/partner have a gene that could be passed on, your child will have a 25% chance of getting that disease.
Nothing is ever 100%.
The first thing you have to ask yourself is, “Can we handle the outcome if our child has this disorder?” It’s a hard question to ask – I think most people who have had a child with a genetic disorder would say they didn’t think they could handle it beforehand, but many of them have handled what life handed them beautifully.
I think that you really have to do some soul searching to decide what your family can handle. There is no wrong answer. Every family and situation is different. After deciding this, you have some different options:
- If you do decide to get pregnant without any outside help, I think it’s important to get testing done during pregnancy so you can start planning for after baby is born. In today’s day and age, there are SO many resources available for children with disabilities or genetic disorders, and early intervention is key. The sooner you can make arrangements for specialists, treatments, etc. the better. I know several people who knew they were at risk for passing on certain disorders, and they were able to better prepare themselves for future children because they were able to prepare during pregnancy for the possibility.
- After getting pregnant, you can choose to have CVS or an amniocentesis done by your doctor to see if any genetic disorders were passed on to your child. These do carry risks, so that’s important to keep in mind. But it can help you know how to best care for your child when they arrive.
- Make sure you have a doctor who understands and supports your beliefs. I have known people who have been pressured to do one thing or another after getting news of an abnormality, so it’s important to have a physician who is on the same page as you.
- If you decide that the risk of the disorder is too much for your family, you can consider a few different options:
- IVF – fertilized embryos can be screened for certain disorders, allowing you to transfer the embryo(s) that are unaffected.
- Pursue other methods for starting a family – adoption, egg or sperm donation, etc.
If you go through Counsyl for your testing, you will be able to have access to their genetic counselors who can help you decide the best route for your family.
Finding out that you could pass on a disorder to any children you have can be devastating – but I think it’s something that can help you to be more prepared.
As I’ve mentioned, this is a very sensitive topic for many, and there is no right answer for everyone! Always discuss any concerns you may have with your doctor before ordering the test.
Katie is a Colorado-native, BYU graduated, and most importantly, wife to one and mother to three beautiful boys. She is passionate about sharing her experiences with others – especially about pregnancy, breastfeeding, cooking, and crafts. She is an International Board Certified Lactation Consultant. She loves spending time with her family and helping others find joy in family life.