Genetic testing, yay or nay?

yellowrose314 · February 2016

In my first appointment with my midwife, she let us know about the whole genetic testing shebang. I'm feeling kind of ambivalent about it. On the one hand, I'm one of those people that can drive myself crazy with "what if's?", but on the other hand I'm like does it really matter? If I find out my baby will be born with DS will that even change anything? I don't think it will. But DH really wants to have it done, and says it's important to him. Did you have genetic screening done? Why or why not?

blondie080300 · February 2016

I have the SAME questions. Plus, the genetic testing aren't necessarily 100% accurate. And, they can produce false positives! Why would we want to put ourselves through all of that? I am so curious what others have to say so thanks for starting this thread!!

PSUBecky23 · February 2016

I'm for it. I'd keep the baby regardless of diagnosis but i'd want the time for research, support and preparation.

mom2adoodle · February 2016

I'm doing it.

backoffunicorn · February 2016

I'm doing it. While you can get false positives initially, you can get an amnio or cvs to confirm. When I was pregnant with DD, I found out I was a carrier of Canavan's. Thankfully, DH is not. It's a horrible disease similar to Tay Sachs and I wouldn't want a baby/child to ever have to suffer through that kind of pain.

mamadomino · February 2016

We did it with our first and will do it again. We wouldn't ever terminate, but I would want to be prepared both emotionally and medically if a diagnosis was made.

also, fwiw, most of the tests are an assessment of risk, not negative or positive, so there are no false positives. The nuchal translucency may say that your risk is higher than a typical woman of your age (1 in xxxxx vs 1 in xxx), but they aren't definitive and usually recommend further testing, like an amnio.

jhems776 · February 2016

I've been thinking about this too. Right now I'm leaning on not knowing. If I wouldn't terminate I'd rather not know till after.

Rebelyelle · February 2016

PSUBecky23 said:

I'm for it. I'd keep the baby regardless of diagnosis but i'd want the time for research, support and preparation.

This, with the caveat that if we found out our baby had a condition incompatible with life, we'd consider termination. I'd want to know either way, research, prepare, get 2nd opinions, and know our options.

jennlynn777 · February 2016

Nope not interested. I won't be aborting and those are risk assessments not guarantees. No amount of research can prepare you for reality anyway so I'll let God handle it and have faith he'll do his will.

UnwritteN12 · February 2016

DH and I didn't do it with the first twins and we decided not to do it with these two. I can very much so understand why some would have it done. We just decided that having the testing done wouldn't change anything.

I also worry about false positives. For example (keep in mind not genetically related), at our big 20 week ultrasound last time, we were told DS had two clubbed feet. And both were really bad from what they could tell. Eighteen weeks later, here come DD and DS and guess what? We got an amazing surprise because DS only had one clubbed foot. So yeah, we still had something to worry about, but not as much as we originally thought.

I say sit down with DH and weigh the pros and cons and understand each other's points of view. Either way, good luck with your decision.

allysonmarie89 · February 2016

My friend did the testing and it came back with her baby having Down syndrome, 1 kidney and something else very serious. She was so depressed about it, beliving it because she had 7 miscarriages, she was unsure about whether or not she was going to keep it. Because she was so depressed they sent her to a specialist and turns out the tests were completely false! She now has a beautiful, very healthy, 8 month old baby boy. I'm going to do the testing but...only because it's just an us...not sure I really buy into it.

diagonalley · February 2016

My DH wanted to do it because I was adopted so we don't really know my family medical history. We got to find out it was a boy at 13 weeks which was cool. I don't know that I want to do it this time but I think he does again.

berh2001 · February 2016

I did the ultra screen test with my first (mostly wanted another ultrasound) and it came back 1 in 19 chance of trisomy 18...Dr Google had me sobbing like crazy so they did another blood draw and did a deeper test and it came back 1 in 15000 chance. For an entire week I thought my child would not survive more than 1 year and it ended up I was a complete mess over nothing. Will not be doing it again. We would not terminate regardless, so I'm not going to stress myself out again when it's mostly false.

AnnaS930 · February 2016

We chose not to do it last time and will not this time either... a higher risk would leave me wondering if it was worth doing more invasive testing or not. We will take what comes at birth.
That being said, we did test to see if I'm a carrier for Tay Sachs last time (I'm half French Canadian which is a higher risk ad husband is ashkenazi jewelry which is a much higher risk). Luckily I am not a carrier as it is a truly devastating and severely life limiting diagnosis.

Sporty1216 · February 2016

We choose not to do it simply because we would not choose to do any invasive tests (amino, etc), which would be the next step if anything came back as higher risk. So, it just doesn't make sense for us. We both figure that if there are issues (which, hopefully, there won't be), they will become evident at the anatomy scan. And that will still give us time to research, prepare, etc.

i can also see the side of wanting to do it. I know it brings a lot of peace to some when the results come back low risk. I really feel like it's a to-each-his/her-own kind of deal.

CoffeeBeanFiend91 · February 2016

We opted out. With my age and the lack of risk factors its not worth the worry.

KarenBeth714 · February 2016

I completely understand your feelings on this, but let me share my story so far... It was recommended bc of dh's and my Ashkenazi Jewish heritage that we both do genetic testing. We found out that we are both carriers for a rare genetic disease called pompe. Now at least we know to test for this disease in a couple of weeks. Of we never did the testing we could have had a child with the disease and discovered it at birth, and it could be fatal. So we are really glad we did it, and science is on our side. Hope this is helpful.

star18star · February 2016

**TW Loss Mentioned**

We did genetic testing because there was a 25% chance our baby would be affected by SMA (degenerative neuromuscular disease). Unfortunately our baby tested positive and they couldn't rule out that it would be Type 1 which rarely has a survival rate beyond a year or two. We ultimately terminated but it was amazing finding out at 12 weeks that we were having a boy. It made us bond even more with our baby even though we had limited time with him.

Bit it of advice - if you don't want genetic testing make sure you understand what your blood panels are tested for. Our Doctor automatically did carrier testing which flagged me as a carrier for SMA. If we hadn't been screened as part of my initial bloodwork we wouldn't have undergone the extra risk of testing and would now be struggling with the SMA diagnosis.

We're on having a CVS done around week 11. It's not a bad procedure - more emotionally draining than physically. We'll always test each pregnancy but we also knew going in that we would probably terminate for any serious medical issues. It's a very difficult and personal choice to do genetic testing and definitely not one to take lightly.

JennM205 · February 2016

We did it with DD, mostly for the extra ultrasound, tbh. This time, my OB no longer does the NT scan and accompanying tests and instead does a genetic screening of only the most debilitating / life threatening disorders. We're doing it. I figure it's good to know if I'm a carrier of anything, not only for this baby but also in the future should we decide to have more children. From there we will take each step as it comes, if it comes, and make the best possible decisions we can for our family and this LO.

All that being said, this is a very personal decision and I see both sides of it. OP, definitely have a good talk with DH and don't be afraid to ask questions of your midwife if needed. You will all figure out together what's best for you.

Edited because words.

Sarafuss · February 2016

Rebelyelle said:

PSUBecky23 said:

I'm for it. I'd keep the baby regardless of diagnosis but i'd want the time for research, support and preparation.

This, with the caveat that if we found out our baby had a condition incompatible with life, we'd consider termination. I'd want to know either way, research, prepare, get 2nd opinions, and know our options.

This is how I feel. After losing a baby at 5 weeks old due to a rare genetic condition we will be doing genetic testing (including amnio) and depending on the results we would consider termination. There are so many other things that can happen besides having a baby with DS. If the condition is not compatible with life, again, then I don't want to go through delivering and losing another full term baby.

superscarf · February 2016

We did it with DD so I'm sure we will this time as well. I don't see any harm in it, and if it becomes a serious situation based on the results, we'll cross that bridge when we get there.

KarenBeth714 · February 2016

@star18star I'm so sorry for your previous loss. We are in the same boat at you with the 25percent chance. We will find out in a couple of weeks. Wishing the best for the both of us!

yellowrose314 · February 2016

Thank you so much everyone for your replies, you've definitely given me a lot to think about. I think we will probably do it, if only to find out of our little bean will be born with a fatal illness, we wouldn't want to put him/her through a painful passing. Thanks again! You guys are great

camichael84 · February 2016

We chose not to do it with DD. The chance of a false positive scares me, and we wouldn't terminate either way. We also would have paid out of pocket for them (though not a deciding factor for us, still something to consider). My OB didn't seemed concerned that we opted out. She told us our family history and age made us low risk.

eboyd83 · February 2016

We discussed this with our first and decided not to. It would only add more stress. I'm a compulsive worrier and read into things. Plus we also decided we wouldn't change anything. We will keep on the journey for whatever bean is coming. But this is a personal decision and the right choice is different for everyone.

ElcaB · February 2016

I'm so glad you posted this --- I just came from an appointment where we discussed genetic testing in depth and I just don't know how I feel about it, so thank you!

nativetexan512 · February 2016

I think we will do both tests at our next appointment that our doctor offered to us. I don't remember the names, but both are blood tests - one looks at the baby's risks for different genetic problems and tells you the gender if you want to know, and another tests if the mom is a carrier for different medical issues (fragile x is the only one I remember). My doctor charges $99 for each test, and it's out of pocket. Reasons everyone else has stated - want to have time to prepare and research if needed.

0SeaMonkey0 · February 2016

I did not get the IPS testing with my first because everyone always calls it the "Down's Syndrom" test and so I thought that was the only condition it screens for. I was of the same mind set as you, "who cares". Since then, I've learned that the test actually screens for a few conditions including Trisomy-18 which is incredibly serious and is considered "not compatible with life". Babies with Trisomy-18 usually go full term, but can't survive outside their mother's bodies. I personally have two friends who have undergone late term abortions because Trisomy-18 was confirmed. I can handle a DS diagnosis after birth, but not to be told that my baby won't survive.

I did talk to my midwife about how we would handle the results though and the changes of false positives. She explained that the results of the first rounds of testing will give us a percentage risk for the different diseases screened for, and we will make a decision about continuing testing based on how high our risks are. DH and I had a talk and agreed that we would continue testing only if we were marked as very high risk for Trisomy-18. If any results come back for Down's or Spina Bifida, we will wait until after the birth to find out more.

RedMar · February 2016

Well, to be honest, the title of this post made me cringe because we had such a bad experience last time around. The testing revealed that it was a high possibility my son would have Spina Bifida. They sent us 2 hours away to a "higher up" medical facility where more advanced ultrasounds were performed and we spoke with a genetic specialist. Our chances narrowed after their tests were conducted, but SB wasn't off the table. Bring on more ultrasounds and worry for the second half of my pregnancy. I tried to set it aside, but it was nearly impossible to not think about.
When DS was born, the first thing I did was flip him on his stomach so I could see his back/butt. All ended up fine, but not worth the worry and destroying the joy of the second half of my pregnancy.

eboyd83 · February 2016

This convo is totally freaking me out already

618mom22boys · February 2016

I am getting the verify by Progenity test done at my next appointment at 12 weeks.

homebird · February 2016

No, we didn't. I would want to be prepared ahead of time, but the tests also have a higher chance of false positives. I already have pretty severe anxiety, adding to that wouldn't go well for me.

ducks6 · February 2016

***TW Loss mentioned***

We got it IPS testing with my last pregnancy and will be getting it again with this one. The results of the IPS were the only sign that something was wrong with baby. The short version of the story is that I had an immediate U/S which revealed I had a MMC at 16 weeks. If they hadn't caught this, it could have taken several more weeks to realize something was wrong. I could also have suffered a hemorrhage which could have been life threatening. I'm not fan of over testing but IPS screening doesn't seem like overkill to me. I will be getting it again, partially for peace of mind after my past experience. I should add, I'm in Canada and not old enough to be at an elevated risk but the IPS screening is till covered by the government.

stillcozy · February 2016

*lurking from July*
it is very important to know that there is a variety of different genetic tests and the results as they are presented vary. All of the base ones are non invasive. Results of the harmony or the materniT test tend to be more conclusive and accurate. However they are expensive if your insurance doesn't cover it or are younger or considered not high risk.

The NT scan is a basic one it is a blood draw and an U/S you have to remember that at 12 weeks when this is typically done the baby is still very much still developing and based on certain markets they look for such as the amount of fluid behind the spine, facial bone development and a extensive health history questionnaire they give you a ratio of your risk it isn't a diagnosis it is a jumping off place to help you know your risks and to allow you to decide if more testing is needed and often the next step is non invasive.

The tests are not meant to scare you but inform you of possibilities.

SuperFudge00 · February 2016

Did the quad screening and NT scan with DS. This time I'm AMA so I should qualify for one of the non-invasive blood tests, I'll get that too. Knowledge is power!

AshleySparkle720 · February 2016

We did it with DD and got false positives. That was enough to scare me out of doing it this time around.

backoffunicorn · February 2016

If I'm turning 35 during pregnancy, does that make me AMA? My doctor said I'm not high risk so I just figured I won't qualify for the noninvasive tests like maternit21

tieragonz · February 2016

When I was pregnant with my first daughter the testing came back saying that there was a high chance she had Down Syndrome. My SIL has DS, and of course when we heard that, we were scared. We went in a few days later for an extensive ultrasound that showed the testing was wrong and there was no concern of DS. She came out with no issues at all and is now the healthiest, smartest 7 year old ever LOL

I chose to have testing done again my 2nd pregnancy and will do it again with this one. I would so much rather have the testing done and be able to educate and prepare myself if there was anything to be concerned about.

618mom22boys · February 2016

@backoffunicorn obviously doctors might be different but I turn 35 2 weeks before my due date and she said that qualifies me to be AMA.

thebigoaktree · February 2016

backoffunicorn said:

If I'm turning 35 during pregnancy, does that make me AMA? My doctor said I'm not high risk so I just figured I won't qualify for the noninvasive tests like maternit21

Lurking from July* I would call you're insurance company, I'm not considered high risk or 35, however mine covers any first trimester test I wanted and I went with harmony which is 99% accurate and just blood work.There was also an option through that company that if you mentioned you needed help paying they'd make it more affordable for you if need be.

backoffunicorn · February 2016

Thanks @618mom22boys and @thebigoaktree. Planning on calling tomorrow just to double check NT is covered which I'm almost positive it will be since I have a BCBS PPO. I'll ask about Harmony or others while I'm on the phone with them.

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