Prenatal testing - our experience (LONG) — The Bump
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Prenatal testing - our experience (LONG)

Prenatal testing is obviously a very personal topic, and I would never judge the decisions that anyone else makes. We?ve had a very stressful, but not altogether uncommon, experience, and since I feel like in general we as parents aren?t well-educated by our MDs about prenatal testing I thought I would share our experience?

 

There is quite a bit of debate about the utility of the screen in the general public as well as among physicians, mostly centered around the so-called ?false positive? rate, the stress it can cause parents, and unnecessary amnios. After weighing the pros and cons, we decided that getting the test was the right decision for us. I tend to be pro-information, and always feel like knowledge is power, so it wasn?t a difficult decision to make. Three days after getting the bloodwork done, I got a voicemail from my OB saying she needed to talk to me about my results. Immediately I knew something was wrong. I called her back immediately and she told me ?Your results were positive for Down syndrome?. My heart dropped and my mind went completely blank.

 

Now, as a physician I felt fairly well-informed about the test and what it meant and didn?t mean. I remembered the basics from medical school: it was a screening ? not diagnostic - test, it only gave an estimated risk, etc. But, for whatever reason when my OB broke the news to me she chose to use the phrase ?positive for Down syndrome?. In that moment, all of my medical knowledge went out the window. I was a mom, and had just been told there was something wrong with my unborn child. My OB had not counseled me at all about the test beforehand, and now in this conversation she did not elaborate beyond that terrible phrase. I finally mustered enough composure to ask some pertinent questions. I discovered that my age-based (baseline) risk was around 1:550, but based on my screen was 1:211. To me, those numbers meant nothing ? the words ?positive for Down syndrome? were burned in my brain.

 

I cried. A lot. I called my husband and cried some more. I went home, and we held each other tight. I looked at Jocelyn and wondered how her life would be different if she had a sibling with DS. I googled and googled and poured over all my medical texts and cried some more. My husband and I kept looking at each other and wondering out loud ? didn?t 1/211 still mean that our risk was <0.5%. Not great, but could be a lot worse, right? Were we missing something? At our OB appointment the next morning my OB explained that because we knew my dates were correct, there was less of a chance that the test was inaccurate in my case. We wanted confirmation that we understood the numbers right, but she clearly felt our numbers weren?t good, which only made us more terrified. She referred us to IU Maternal Fetal Medicine.

 

Waiting was torture. But, after crying and freaking out for two days I became more at peace with whatever fate had in store for us. I read lots of stories about other women/families in the same situation ? some who ended up having a child with DS, some who didn?t. I started to accept that maybe we were chosen to have a special needs child. Chris and I discussed amniocentesis. The risk for miscarriage was 1/300-1/400, and the MFM we would be seeing, Dr. Abernathy, came highly recommended by two of my friends who are OBs themselves. For us, the amnio was a no-brainer. Knowing our baby?s diagnosis ahead of time would allow us to deliver near a tertiary care peds hospital if necessary, arrange for any perinatal medical consultations and treatment, research the best therapeutic interventions, and learn about and prepare for raising a child with DS.

 

We met with the genetic counselor Monday morning and immediately felt better. She confirmed that we weren?t, in fact, ?missing something?. She went over our family and medical histories, went through the details of my quad screen results and all the statistics, and explained our options for further testing. No one ever mentioned pregnancy termination. Next we had a level 2 US. The tech was great and explained everything. Thankfully, no ?soft markers? were found, but we had been told that up to 50% of babies with DS don?t have any. We knew we still wanted the amnio for a definitive diagnosis. It wasn?t a picnic, but it was over quickly and the baby did great. We requested the FISH analysis which gives preliminary results in 24-48 hours, which is always followed-up by the traditional chromosomal analysis that takes 10-14 days to come back.

 

This afternoon, I received a phone call from the genetic counselor; according to the preliminary results, our baby boy does NOT have DS. We will feel even better when the final results are in, but the FISH is 99%+ accurate. Of course, we are well aware that just because our baby doesn?t have DS, doesn?t mean he couldn?t have other health issues. I have been spending time reading the Special Needs board and it has hit home how many parents raise children with medical or behavioral problems that would not have been picked up before birth. Although I?ve read about many women who regret getting the quad screen after going through a similar situation, I do not feel that way. I would do it again in a heartbeat. This may have been the most difficult week of our lives, but for us it was worth the opportunity to prepare to provide the best future possible for our child.

 

I can?t believe this is so long. I just really feel strongly that patients should be educated about their choices, whatever they are. I completely understand why parents would choose not to undergo prenatal testing. For those who do choose to, I hope they understand the limitations - I thought I did, and still freaked out. We feel so fortunate that we have had a reassuring outcome thus far!

 

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Re: Prenatal testing - our experience (LONG)

  • What a well spoken, honest and informative post.  Thank you for sharing what might have been the most stressful experience your family has had to go through.  I didn't choose a screen because of personal reasons, but I can totally see how for some people, it is definitely the right choice.  So happy about the outcome, but also impressed at your peace through the experience!  I hope I can weather such challenges with that type of grace someday. 
  • I really appreciate your posting this. I'm glad that you're both getting good information and able to think about what a positive would mean for your family...and I really, really appreciate your awareness that even extensive testing doesn't mean we've caught everything. (((hugs))) and I hope that your second set of results confirm the first!
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  • First, lots and lots of (((HUGS))).  I went through something very similar with this pregnancy after finding out that I was a carrier for CF and coming to terms with the odds we might have a baby with CF.  I think I can relate to how you might have been feeling through this whole process...(((HUGS)))

    I'm really surprised at your OB's choice of words. As an AMAer, I start out at 1 in 100 odds right off the bat.  No one told me I was positive for Down's and those are worse odds!! 

    I did my testing through the MFM both times (not through the OB).  They explain the odds before you take the test (and I did the NT scan as well).  It creates alot of anxiety, but I think it's probably better to understand the numbers before you get them back.

    Thanks for sharing your story and your thoughts.  I often reflect if I would do the CF testing again after everything I went through.  I think we have similar philosophies. 

    Take care, I'm glad you the results you did in the end.  Hopefully you can take a deep breath and relax for a little bit here.  You've had a rough few weeks.

  • Thanks so much for posting. I'm so sorry that you've had to go through all this :(
  • Sorry you had to go through all of this, I can't imagine! I'm glad the results are negative though, despite your ordeal.

    Stories like this were exactly the reason I chose not to have the test. I can't imagine the emotional ups and downs you've had to deal with this past week. ((((HUGS)))) 

  • I'm sorry you had to go through this experience.  I'm so so glad everything is okay!
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  • Wow, Whitney, what an emotional week!  I am so glad that you posted your experience.  As Ann said, it is so well-written and you've obviously posted it from the heart.  I'm disappointed by the way your OB delivered the test results; who would not freak out completely after hearing that?  Other than that, I'm glad that your other interactions with doctors this week have been more positive, and that you and Chris are happy to have had the week to think and bond together for your family...definitely a silver lining through this all.  You are one strong woman and your babies are lucky to have you!
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  • Wow - I'm sorry you had to go through that and am very happy that the results were favorable in the end.  Thanks for posting this and sharing with us.  ((hugs))
  • Congrats on the baby boy!  I am sooooo glad that everything looks to be negative for DS.  What a scary week.  We did our 1st trimester screen/NT/genetic counseling when pregnant with Ellie at the IU MFM and had a great experience.  I am very pro testing and finding out everything you can.  ((HUGS))
  • Thank you for sharing! I am so glad that everything is going to be okay. I am sorry you had to go through that emotional scary week. ((HUGS))
  • Thank you so much for sharing your experiences.  What an emotional week for you!
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  • I'm so sorry that you had to go through such a stressful week but incredibly thankful that you got good results.  T&P that the final results are just as uplifting. 

    I landed on the other side of the fence with my decision not to get the quad test after the MFM found the calcium deposit in our baby's heart but it was an amazingly difficult decision.  I'm sure that your post will help other folks who might find themselves with a similar decision, make the choice that is right for them.

  • Oh Whitney,  I could've written this WORD for WORD!  This is EXACTLY what happened to us.  With the exception of the explaination coming from your OB.  Ours was sure to explain to us that our numbers didn't mean it was positive for downs but higher risk.  We also met with a genetic counselor at St. V's and they explained further what the numbers mean and how so many OB's don't relay the test results accurately.  We opted out of the amnio and only had the level2/us.  I also am glad we went through the test b/c I I wanted to be prepared.  I'm sorry that you had to get on the emotional roller coaster b/c I know exactly what emotions you were feeling.  I am glad to know that all is well with your little boy.
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  • What an emotional week!  I'm so glad you posted this because although we opted out of the testing during both pregnancies, it is still an extremely difficult decision to make. I'm so very glad that everything looks to be ok for your baby. 

    By the way - congrats on a little boy!!!

  • What an emotional and tough week.  I'm so glad that everything looks to be ok.  Thank you so much for sharing this. (((hugs)))

  • Thanks for taking the time to write this.  We had testing as well, as have most of my friends.  I'd rather know then be shocked in the delivery room.
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  • Thank you so much for sharing your experience.  I can't imagine what you and your husband went through during those periods where the outcome was uncertain. 
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  • Whitney, I am so thankful that you took the time to share your story. We all make the best decisions we can with the information we have at the time, and hearing another "side" can only help all of us make better decisions in the future.

    So glad it appears your son is healthy! ((hugs))

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