5 Things to Consider When Thinking about Prenatal Genetic Testing

In November of 2023, I went to my 20 week anatomy scan when I was pregnant with my son, Linus. The next day I learned about his omphalocele and a variety of other abnormalities found in his imaging. This thrust us into the world of complex pregnancies and genetic testing, and less than two weeks after that ultrasound I found myself getting a procedure I never imagined myself experiencing- an amniocentesis. In the week leading up to the amnio, I had a lot of conflicting thoughts and emotions and I found that considering these 5 questions, along with a lot of prayer, brought me a tremendous amount of peace whenever the time came to consent to the procedure. If you are a parent being urged to do any kind of prenatal genetic testing, I hope you find at least a tidbit of these thoughts helpful. Of course, I am not a medical professional of any kind- I am just a mom who has had a crazy year with lots to share. 

Is there evidence suggesting that your baby may have a genetic condition?

This may sound like an obvious and silly question to ask, but it is important. Immediately after I learned about Linus’s omphalocele, I knew that doctors would be asking us about genetic testing. However, I also knew that lots of children with omphaloceles have no genetic syndrome causing it. For example, there are two main categories of omphalocele- giant omphaloceles, which contain not only portions of the baby’s bowel but also other organs (most commonly the liver), and a “standard” smaller omphalocele which contains just small intestine. These small omphaloceles are far more common in children with genetic syndromes than giant omphaloceles are. When dealing with the stress of a “normal” pregnancy turned complex, it’s important to keep things in perspective- sometimes a birth defect is just that and not a sign of anything greater. 

It is also important to be very realistic when considering the information you have from ultrasounds or other testing. Linus had an omphalocele, but he also had multiple other unique features the radiologist noted when reviewing our 20-week anatomy scan. Having multiple abnormalities flagged on that report opened our eyes to the very good chance that our son had a genetic condition. In my heart I of course wanted him to have a beautifully normal genome, but I saw the evidence in front of me and adjusted my expectations accordingly. 

While my husband and I did a lot of research on our own, the most important thing we did when considering getting an amniocentesis performed was discussing with an OB and a genetic counselor exactly what evidence we had pointing towards different diagnoses and what the likelihood of each of those were. Don’t be afraid to take your time with these conversations. I know that OBs can have the reputation of having exceptionally brief appointments, but these conversations should not be rushed. As if the emotional aspect of wondering if your child has some sort of syndrome isn’t difficult enough, genetics are complicated and tough to understand, so ask all of the questions you can think of and your doctors should be more than happy to walk you through everything!

Will receiving a diagnosis prenatally make a difference in the labor and delivery plan and the care they need immediately after birth?

There are a wide variety of genetic conditions that babies can be diagnosed with prenatally, and they all present differently and come with their own unique challenges. Some have known complications that often require intensive care soon after birth, and others are simpler to manage. When to perform any necessary genetic testing is a difficult and personal question, and there often is no obvious choice. Some families want to know as much information as soon as possible, while others may be wary of the risks of the tests (another important thing to consider) or simply want to take things one step at a time and may choose to wait until after the baby is born to get any testing. These are situations that to others may seem easy to look at from the outside and consider what you would do, but once you and your baby become the patient these choices feel far more challenging. Having a very realistic conversation with an OB and/or a genetic counselor about the benefits of getting genetic testing done prenatally as opposed to after birth and any potential risks that may come with waiting to receive a diagnosis is extremely important. 

After our initial discussion with a genetic counselor, we knew that Linus’s test results were most likely pointing us towards a Beckwith-Wiedemann Syndrome diagnosis. I know of many families who have been in this position, and some have decided to get an amniocentesis done while others have decided to wait and get genetic testing done after the baby’s birth. BWS doesn’t typically present many difficulties immediately after birth other than the possibility of low blood sugar. Many of the other potential complications, such as feeding or apnea issues from having a large tongue can be managed as they come up after birth and don’t require preparation in advance, especially since BWS presents on such a spectrum that not all of these kiddos face these issues. One thing getting our genetic results prenatally allowed us to prepare for was the risk of preterm birth. Since we lived about 3 hours away from Seattle, where Linus needed to be born, it was important to me to know if this was a big enough risk that we needed to have a plan in place for it. After getting our genetic results, a geneticist told me that she felt like there was a 50% chance that I go into labor at 34-35 weeks, which ended up happening with us. Thanks to that, I had everything ready to go when the time came. 

Do you feel like you need extra time to learn about this potential diagnosis and manage your expectations?

This question is very dependent upon your personality. Some people like to research every little thing and others don’t. Having a child with a genetic syndrome certainly requires lots of research and advocacy, so it is an important thing to gradually become more comfortable with if your child does indeed receive a diagnosis of some sort. In the meantime, consider your emotional and mental state. Will knowing if your child has a genetic condition before they are born bring you peace, or will it leave you feeling anxious for the remainder or your pregnancy? Will doing lots of research leave you overwhelmed, or does knowing what to expect make you feel empowered? Having a child with a genetic condition often requires some amount of grieving. This can be grieving the childhood you envisioned for them, grieving a loss of innocence that can come from frequent medical procedures and surgeries, grieving because of the sacrifices you may have to make as a caregiver, and, for too many parents, this can include grieving the loss of a child. If your child might have a life threatening genetic condition, whether or not you do prenatal testing is truly so personal and there is no right decision. I have seen parents grieve tremendous loss, and I know families who have experienced wonderful miracles. The one thing I have seen in common with every family I have ever met that has faced a genetic diagnosis for their child is God walking beside them every step of the way. 

Do you want to get genetic testing done?

This may seem like another very obvious question, but sometimes when you are dealing with a complicated baby and lots of doctors with lots of opinions, it can be easy to forget that this is your baby and you have a say in what happens. You are not required to agree to any testing! Of course you should consider everything the professionals involved in you and your child’s care have to say, but remember that you know yourself and your baby better than anyone, and it’s your job to advocate for what you think is best. 

Will this change the love you have for your baby?

I can tell you the answer to this question- no! Knowing whether or not your child has a genetic condition will not change your love for them. Having a medically complicated baby can make life look very different than what you might have envisioned, but no matter what challenges your child may face, you will have a tremendous amount of love for them and experience immeasurable joy from being their parent.