Trying to decide on first trimester screening

shihtzufan · January 2015

I looked around the boards and didn't find exactly what I was looking for, but point me in the direction if I missed it.

We just had our first ultrasound and everything was perfect! They offered the first trimester screening for chromosomal abnormalities and wanted to schedule me for it. I said I'd talk to my doctor first but I've heard some bad things about false positives. Specially, a friend of the family had a false positive and she was told her baby wouldn't make it outside the womb. She had a hard time bonding with her baby while pregnant. Then, she had the amnio and was told everything was ok. She's in her third trimester and is still having a hard time bonding and just getting used to the idea that she will have a healthy baby as she already went through the grieving process.

So, my question is, what are the pros and cons of the tests? I'm not ama or high risk nor do I have any family history of genetic disorders.

ittybittybaker09 · January 2015

Is it going to change anything you feel about your baby if you get the test and test positive? I could never, but some people terminate when they find out there could be something wrong. (I'm not saying you Would, just in general) if you have no qualms the there is really no reason in my opinion

lap018 · January 2015

I'm in the same boat, most of my friends did not get it simply because even with abnormalities they wouldn't abort or anything and the second trimester screening shows much of the same things that combined with the crazy amount of stress and worry caused by false positives they decided not to do it. On the other hand you get to see peanut another time!

shihtzufan · January 2015

No I absolutely wouldn't terminate and that's exactly what dh said when I asked him if he wanted to do it. We're leaning towards not doing it but I wonder if I'd be missing out on anything or if I would question it at all throughout my pregnancy.

sarahtotis · January 2015

We decided against any testing, negative results wouldn't change anything except my stress level

shihtzufan · January 2015

Thanks @sarahtotis‌ @lap018‌ and @ittybittybaker09‌. It helps to know other mommies aren't wanting to do the testing either. Plus, we can see any markers for Down syndrome on the a/s scan anyway, right?

yvomar · January 2015

I had the screening done. By nature I like ALL of the information I can possibly get. I did have one slight abnormality come up and in all honesty all it did is stress me out. It's even more stressful that my ob wants me to see a specialist and I have to wait to do that. Either way, the baby is mine and regardless will be coming into this world and will be loved. So if further testing shows something at least I can prepare but it's been so stressful. If you don't feel like you need the testing or added stress, don't do it!

mamaloaf · January 2015

I wanted to mention that there is more to it than would you/would you not terminate. If the results reveal that the baby may have a certain condition, then the delivery can be handled more carefully and controlled to manage around doing any potentially harmful damage during the process.

Once I learned that, then I decided to have the NT scan both times.

shihtzufan · January 2015

mamaloaf said:
I wanted to mention that there is more to it than would you/would you not terminate. If the results reveal that the baby may have a certain condition, then the delivery can be handled more carefully and controlled to manage around doing any potentially harmful damage during the process.

Once I learned that, then I decided to have the NT scan both times.

Thanks @mamaloaf‌ that's a good point and definitely gives us another thing to think about!

Heavenwhip · January 2015

We didn't have it with our first. With our second my doctor considers me in the advanced maternal age category (fyi I'm only 34, will be 35 when I deliver) so he wants me to have the NT. We said fine only because we're planning to buy a new home soon and if something does come up then that could affect our decision on what house to buy. But truthfully had my doc not insisted we wouldn't have gotten it.

jessers74 · January 2015

yvomar said:
I had the screening done. By nature I like ALL of the information I can possibly get. I did have one slight abnormality come up and in all honesty all it did is stress me out. It's even more stressful that my ob wants me to see a specialist and I have to wait to do that. Either way, the baby is mine and regardless will be coming into this world and will be loved. So if further testing shows something at least I can prepare but it's been so stressful. If you don't feel like you need the testing or added stress, don't do it!

I just had the panorama testing and all results were normal except Rubella (I am not immune to it) but there is something going on with my antibodies. I now have to see a specialist as well. Will keep you in my t&p for your testing. I am not RH negative so that's not the antibody issue.

cosplaymom · January 2015

I had the NT scan both times. I am not a worrier so I did not see any reason not to. I think it is wise to have all of the information you can get. Plus you get another peek at baby!

MissV22C · January 2015

I just had mine nt scan and maternal serum blood tests done today. My understanding is that you are given a risk assessment (ie 1:1000 chance of having a child with a trisonomy). Tbh a higher risk assessment wouldn't change anything for dh and i, i wouldn't abort on the chance of a trisonomy. We decided to do it so we can have more time to prepare ourselves in case of, and also more importantly to make sure our little fluff has made it past the 12th week- seeing the heartbeating was a huge relief for us, all the limb flailing and turns and jumps were a bonus

With so many sad stories of women going in to find their little ones stopped growing after a week or so of their last scan, that has really been my biggest worry so far.

Mwendt615 · January 2015

We opted out of the testing. There is no way I would terminate so finding out my risk factor would only cause stress. However, I did ask my doctor if any of the screenings would indicate an issue that may or may not require a special service at delivery/birth. I was told no since it is just a risk factor. Plus, a second trimester ultrasound should show if there are major issues with development and organs etc. Those issues are my concern since I want to make sure our baby has the right staff present at delivery. Screenings/testing is a very personal decision. My husband and I were on the same page so that helped!

ambercdc · January 2015

We have ours today. It wasn't even presented as optional, every patient does one at our perinatologist practice. I just want all of the information I can have up front. Of there is something to worry about, I want to know so I can educate myself and make the best decisions for our baby.

We decided to do the panorama testing as well, which was optional. My OB thinks every pregnancy will have this testing done by this time next year and thought very highly of it.

+lisamarie+ · January 2015

We had it down with our first being that we were told it was something they do, so we did it. We didn't have it done with our last 2 and I'm not having it done with this one either. It was nice being asked and given the option with my midwife. It is a personal choice, but honesty, the only way to know for sure is through genetic testing anyway.

skinandbones · January 2015

This drives me nuts- it is not a diagnostic test so it can not tell you definitely if your baby has an abnormality. It only gives you odds..

My midwives use the first trimester screening with the AFP blood results with the 20 week ultrasound to determine if more invasive testing is needed if the baby is determined to have a high risk of abnoramlites.

thesportsgal · January 2015

skinandbones said:

This drives me nuts- it is not a diagnostic test so it can not tell you definitely if your baby has an abnormality. It only gives you odds..
My midwives use the first trimester screening with the AFP blood results with the 20 week ultrasound to determine if more invasive testing is needed if the baby is determined to have a high risk of abnoramlites.

SO MUCH OF THIS. OP, your friend must be talking about a different test with a false positive. The NT scan gives you odds, NOT A POSITIVE OR NEGATIVE.

And it drives me nuts when people say they wouldn't do it the test because they wouldn't terminate. 99% of people who do the test wouldn't terminate!! I would much rather have the time to mentally and physically prepare for something instead of finding out in the delivery room.

JGY · January 2015

thesportsgal said:

skinandbones said:

This drives me nuts- it is not a diagnostic test so it can not tell you definitely if your baby has an abnormality. It only gives you odds..
My midwives use the first trimester screening with the AFP blood results with the 20 week ultrasound to determine if more invasive testing is needed if the baby is determined to have a high risk of abnoramlites.

SO MUCH OF THIS. OP, your friend must be talking about a different test with a false positive. The NT scan gives you odds, NOT A POSITIVE OR NEGATIVE.

And it drives me nuts when people say they wouldn't do it the test because they wouldn't terminate. 99% of people who do the test wouldn't terminate!! I would much rather have the time to mentally and physically prepare for something instead of finding out in the delivery room.

This exactly. The only emotion that I want to feel in the delivery room is joy. I understand that is a very individual decision.

I also do wish that people had a better understanding of what these tests do and do not tell them (and the education from Health Professionals is key here). People also need to understand that there is further testing that can be done (with higher levels of risk, of course), and no one is asking you to sit there for 6 months in limbo without the facts. 1st Tri Ultrasound Bloodwork (Screening) ---> Cell Free DNA (Screening) ---> CVS/Amnio (Diagnostic).

I will be living through this in the next few weeks. I am AMA (and also was with my first) and I have my NT scheduled for next week. Because of my age my Dr recommended going straight to cell-free DNA (Verifi) and I will be doing that. Based on the results I receive, I will make the decision as to whether I want to pursue a diagnostic procedure or not.

One gentle (I'm really am trying to be gentle) piece of advice for all the Mamas out there: Before making the decision to decline any of the testing listed above, please do read up a bit on all of the disorders that these tests screen for. In many cases, Trisomy 21 (Down's Syndrome) is the most benign, for lack of a better word, of the conditions included in the screening.

kellycbartz · January 2015

I did both early tests myself. Personally I want to know as much information about my baby as possible. Everything turned out fine and it was such a relief to know that so early on in the pregnancy. I thought about if things didn't turn out fine in the tests what I would feel like. Of course it would be stressful and sad but in the end I rather be prepared for what we will have to deal with and not surprised. The stats are in your side that everything is fine. You just have to keep remind yourself that regardless of whether you decide to do the tests.

lml0131 · January 2015

At first I was not planning on doing the scan but at the last minute decided to book it. I am 25 with no complications or family history so I was not worried at all. Well we went for the ultrasound last week and found the baby had a large fluid filled sac on its head and neck called a cystic hygroma. My dr. Said this is usually associated with chromosonal abnormalities or heart problems and only a 1% the baby will survive to term.

With this information we decided to have the cvs procedure and 2 days later found out our baby girl has turners syndrome.

We were told the risk of misscarriage is 99% and I am thankful we found out now so we can closely monitor the situation and be prepared for the challenges we may face.

2gr8pits · January 2015

Can I say this, I have yet to read all the responses. But, I had panorama done and she is at high risk for a serious disorder. I have had CVS done and we are waiting for results. It could be nothing or it could be something that would require 200+ surgeries in the first year and she probably would not survive. Would that be fair to my family?

Now, it may be nothing and if that is the case then it is great news and we have no worries. However I would rather be prepared, if it is offered to me, than unprepared in the event something was wrong. Which would be more difficult for you?

LSquared3960 · January 2015

mamaloaf said:

I wanted to mention that there is more to it than would you/would you not terminate. If the results reveal that the baby may have a certain condition, then the delivery can be handled more carefully and controlled to manage around doing any potentially harmful damage during the process. Once I learned that, then I decided to have the NT scan both times.

This. I did it with my DS and we did it again this time. For us it has nothing to do with whether or not we would terminate (we never would), its about preparing as much as we can before he/she is born and making sure you have the appropriate team of doctors working with you. If it was determined I was at a higher risk with either of my pregnancies I would want to do everything I could for my child, as early as I could. I think thats an important consideration.

schup156 · January 2015

I spoke with my doctor about testing during my first pregnancy, because I had also had a close friend who had a false positive result. I simply asked if the results of any of the tests would change how the baby was delivered or cared for immediately after birth. If the answer was no, then I chose not to do the testing. I'm going the same route this time.

ambercdc · January 2015

We had ours today, and they not only checked for chromosomal abnormalities but they also checked out baby's heart, brain, bone structure, bladder, the umbilical cord and blood flow. I believe this was above and beyond as it was at the perinatologist office but it was great to check out all of those things and make sure they all looked as expected. Just an FYI that it may be only be chromosomal abnormalities they are looking at.

And I am off the camp that I want all the information I can get. Not because I wouldn't continue with the pregnancy, but because is want to educate myself and be prepared for whatever is ahead.

I'm so sorry to those of you who have had bad results from this scan. I hope you can take comfort in the fact that you'd rather know now what lies ahead if it's different than originally expected.

skinandbones · January 2015

lml0131 said:

At first I was not planning on doing the scan but at the last minute decided to book it. I am 25 with no complications or family history so I was not worried at all. Well we went for the ultrasound last week and found the baby had a large fluid filled sac on its head and neck called a cystic hygroma. My dr. Said this is usually associated with chromosonal abnormalities or heart problems and only a 1% the baby will survive to term. With this information we decided to have the cvs procedure and 2 days later found out our baby girl has turners syndrome. We were told the risk of misscarriage is 99% and I am thankful we found out now so we can closely monitor the situation and be prepared for the challenges we may face.

I'm so sorry.

shihtzufan · January 2015

thesportsgal said:

skinandbones said:

This drives me nuts- it is not a diagnostic test so it can not tell you definitely if your baby has an abnormality. It only gives you odds..
My midwives use the first trimester screening with the AFP blood results with the 20 week ultrasound to determine if more invasive testing is needed if the baby is determined to have a high risk of abnoramlites.

SO MUCH OF THIS. OP, your friend must be talking about a different test with a false positive. The NT scan gives you odds, NOT A POSITIVE OR NEGATIVE.

And it drives me nuts when people say they wouldn't do it the test because they wouldn't terminate. 99% of people who do the test wouldn't terminate!! I would much rather have the time to mentally and physically prepare for something instead of finding out in the delivery room.

I'm not sure what the test was exactly but I know it was a "first trimester screening" and I bet it didn't really give her a "positive" but that's probably the way she referred to it because when you're talking to nonpregnant people it may be easier to explain that way.

But I really am just trying to educate myself to decide on whether or not it's something I should do. The ultrasound nurse literally handed us a pamphlet on it and then asked if we wanted to schedule it. So thanks for your input because I definitely see why people would want to know beforehand to prepare themselves for the need in the delivery room. This is something I can bring up with my husband so we both have all the info we need. Thanks!

shihtzufan · January 2015

lml0131 said:
At first I was not planning on doing the scan but at the last minute decided to book it. I am 25 with no complications or family history so I was not worried at all. Well we went for the ultrasound last week and found the baby had a large fluid filled sac on its head and neck called a cystic hygroma. My dr. Said this is usually associated with chromosonal abnormalities or heart problems and only a 1% the baby will survive to term.

With this information we decided to have the cvs procedure and 2 days later found out our baby girl has turners syndrome.

We were told the risk of misscarriage is 99% and I am thankful we found out now so we can closely monitor the situation and be prepared for the challenges we may face.

I'm so sorry you're going through this. Your story along with what others have said are really helping me make my decision. Thoughts and prayers for you.

bashfulbird · February 2015

Here is really good post from the 1st trimester board from about a month ago.
https://forums.thebump.com/discussion/12495619/a-gentle-psa-on-genetic-testing-and-other-screening
I hope you find this as helpful as I did. It really put my mind at ease.

cowboys2009 · February 2015

skinandbones said:
This drives me nuts- it is not a diagnostic test so it can not tell you definitely if your baby has an abnormality. It only gives you odds..
My midwives use the first trimester screening with the AFP blood results with the 20 week ultrasound to determine if more invasive testing is needed if the baby is determined to have a high risk of abnoramlites.

I did the first tri screening and the genetics counselor just called me today to say that at my age the risk of Downs Syndrome is 1 in 330 but something that came back in my blood work has my risk at 1 in 185. They are having me go for an intermediate (?) blood work screening on Monday. She said they can determine directly from my blood what exactly is going on.

xcitdmomma · February 2015

We did the non-invasive chromosomal blood screening. My doctor hasn't said anything about a NT, so I think we'll pass on that. We plan on refusing any invasive testing.

@cowboys2009 1/185 still means 184/185 are normal. FXFY

shihtzufan · February 2015

Thanks for your replies everybody! I had another appointment today and discussed it with my doctor. The way she put it was- "I've been at a delivery where the parents had no idea their child was going to have Down syndrome when their child was born and deliveries where the parents knew ahead of time. It was a lot easier and a much happier and less stressful environment when they already knew their child was going to be born with Down syndrome."

That made a lot of sense to me so we chose to go ahead and schedule the testing. Praying for a healthy baby and cannot wait to see him/her again on the ultrasound!

cowboys2009 · February 2015

xcitdmomma said:
We did the non-invasive chromosomal blood screening. My doctor hasn't said anything about a NT, so I think we'll pass on that. We plan on refusing any invasive testing.

@cowboys2009 1/185 still means 184/185 are normal. FXFY

Thank you

I'm much calmer now but between needing a follow up ultrasound next week and now this blood test this week I'm slightly freaked out. My pregnancy with dd was 100% smooth sailing so I've been thrown for a small loop. Keeping faith everything will turn out just fine

ann_jeremiah · February 2015

We have always opted not to do it, because we would continue the pregnancy anyway. I've also known someone who was told her baby would have Downs... And he doesn't!

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