A Loss Mama’s Experience with Genetic Testing

By |2018-11-27T20:13:52+00:00November 27th, 2018|Pregnancy|0 Comments

Photo by Kyle Broad on Unsplash

When I was pregnant with my son, I was lucky that it was a fairly easy pregnancy.  When we were offered the typical genetic testing at the time, it was the NT (nuchal translucency) scan, the basic test that everyone can do that has the ultrasound along with a blood test. It isn’t a comprehensive test but covers the most common issues. Of course we were excited when everything came back normal and thought we didn’t have much to worry about after that.

Then I got pregnant with our daughter three years later.

Instead of doing the NT Scan, my OB was offering the blood test that still checks for the most common issues, but it doesn’t check for neural tube issues. Since there was a neural tube defect in my husband’s family, we were sent to a specialist for genetic testing. I really didn’t want to go because I figured we should just do the NT scan and everything would be okay. Little did I know my life would change at the specialist appointment.

We went in at 13 weeks to meet with the MFM (maternal fetal medicine specialist) and have the NT scan. They noticed a problem on the ultrasound, and it was a problem that no blood test would have detected. We were then given the option of going ahead and doing the standard blood test or we could do an amnio. I was afraid of doing the amnio because of the risks to the baby. I declined and we did the blood test. Waiting for those results was hard, but everything came back normal.

Later, after we had meet with a specialist about our daughter’s condition, they strongly recommended we do the amnio because they were seeing signs that there may be another issue going on. I agonized over this. Was this something I really wanted or needed to do? Would this really give us any answers? What if it came back and showed nothing wrong? Even scarier, what if it came back and showed that something was wrong?

The amnio tests for so many different things that when I asked the doctor what kinds of things the test can come back with, they couldn’t even give me a real answer because there were a variety of possibilities. And with some of those things that could come back, they had little to no information on. Again I questioned whether or not I wanted to do this.

I decided to go through with it because the specialist said that we needed as much information as possible in order to plan for her treatment.

I almost cancelled the day of because I still was unsure about it. The procedure itself was quick, but not fun. Then came the even harder part of waiting to get the results. I was informed that the basic results would come back within about three days, but the extended results would take around two weeks. The first results weren’t as hard to wait for as these mainly tested for the same things the blood test had already ruled out.  The harder part was waiting two weeks for those extended results to come back. The whole time I tried to stay calm and remind myself that there was still a strong possibility that it would come back with nothing. What would I do if it did come back with something? Well, I figured the doctor would be able to give me information on whatever it was and we could just go from there.

I waited the whole two weeks and still had not heard anything back. I called the doctor’s office to ask if the results had come in yet. The nurse said they had, but then told me the doctor would need to call me back because she needed to talk to me about the results. Right then, I knew it had come back showing something.

The doctor waited all day to call me back and gave me the news that it had come back with mosaic trisomy 15. What was even worse was that this was super rare and they had little to no information on it. In that moment, I regretted having this information. It was one more thing to worry about and something I didn’t have information on and couldn’t even prepare for. Doctors who knew about the diagnosis then had reservations about treatment. It changed everything.

With my next pregnancy, just because of our history, I will probably still do the standard NT scan or blood test.

These provide good information about common conditions. But if anything were to come up on an ultrasound again, I really don’t know if I would want to go through another amnio again. We were offered genetic testing on ourselves after we lost our daughter.  The geneticist told us that it did not appear to be a genetic issue, but a random occurrence. She brought up the point that if we did the testing, and found nothing wrong with the 15th chromosome, but found something wrong elsewhere, would it help us or would it make us worry more? We decided against the testing because sometimes too much information is not helpful.

Deciding whether or not to do the genetic testing is a hard and very personal decision.

I know people on both sides who want to do it and those who don’t want to do it and I completely understand both sides. It is scary to think something is wrong with your baby and even scarier to find out that something actually is. At the same time, it is comforting when you find out that everything is just fine. All I do know for sure is that I loved my daughter and did everything possible to protect her.

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About the Author:

Sarah Cox
Sarah Pruitt Cox lives in the Dallas, Texas area. She works full time as an accountant and tax preparer. She is the mother of a 4 year old son and three babies in Heaven. Sarah had trouble getting pregnant, but gave birth to a healthy baby boy named Nolan in 2014. Afterwards, getting pregnant was still a struggle. She had a chemical pregnancy in 2016, followed by a miscarriage in early 2017. Sarah became pregnant with her daughter, Jasmine Grace, in August of 2017. This was a rough pregnancy, and at the 13 week ultrasound they discovered that Jasmine had CDH (congenital diaphragmatic hernia). After an amnio was done a few months later, they discovered she also had mosaic trisomy 15.  Sarah and her husband had made plans to see a specialist in Florida, but the issues were too much for Jasmine and her heart stopped beating around 32 weeks. Sarah then had to deliver her, where she was born stillborn. She now wants to help other women who have experienced a life-changing loss like this and ensure that no one ever feels alone when going through this. Sarah has been writing about her loss through her blog Life is Stupidly Unfair: A Mom's Journey of Survival.

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