Will you get an amnio?

LittleRocket

I will be 35 on my dd, with my first. I thought I'd go for the amnio, but then I learned about the miscarriage rate, and I don't know if it's worth it. We've gone through years of infirtility and ivf to get pregnant, so we are quite scared about everything, really. We're starting with an NT and blood tests. I'd like to have information that can help prepare us. My husband and I work with children with special needs. We would definitely continue the pregnancy if it looks like the baby has downs, so it's not about that. If the information can help me take actions to help the health of my baby, such as delivering at a larger hospital with a great neonatal ward, doing research so we can be prepared, etc, then I want that info. I don't want to do anything that could be detrimental to my baby's health just to satisfy my curiosity. My main question is: what can the amnio really tell us that an NT and blood tests can't? I know the amnio has a higher accuracy rate & is actually diagnostic. I can't figure out if it actually tests for more things that would allow us to take actionable steps to help the health of our baby. Sorry for the incredibly long post! I'm very interested in your thoughts and opinions on this. Thanks!!!

amp61470

I had a test similar to a harmony test. It came back normal. I asked the nurse about my need for an amino since I really do not want one, and she said as long as my level 2 scan in a few weeks comes back normal there is no need for an amnio. I am 44 and I have a history of miscarriage, the last thing I want to do is risk my little guys life. 

KateLouise

Our NT screen came back low risk, so no we won't pursue amnio. I'm not sure what decision we would make if it came back high risk.

I figure that any health issues that could require specialist birthing care would probably show up in the 20 week anatomy scan.

niknak1208

I never do any of the additional testing actually. I struggled with infertility and have had several losses. Some early one late at 20 weeks.

cneiding

I never gave an amnio a single second of thought.  Just not something I was willing to risk no matter what the situation was.  I am 42 and since I have been 35 I have had 4 babies and one when I was 34 1/2 too.  I would not have terminated no matter what was found so that reason for one was off the table.  I never did any testing besides ultrasounds because I felt they were too unreliable.  If any of my ultrasounds would have come back suspicious I think I would pursue it with a level 2 ultrasound.  Just, for like you said, Look into delivering somewhere that would be equip to better handle any situation the baby might face. 

If I would have an amnio and miscarry a perfectly healthy child that would have forever scarred my heart.  Even if I had an amnio and it was discovered that the child had something incompatible with life, and I would miscarry from the amnio, my conscience would not be able to accept that I my decision to have the amnio actually ended the child's life. 

The new tests called Harmony, Materni21 or Progenity have a very high accuracy.  This time I actually agreed to do that test whereas I never did any testing before.  I felt the accuracy was high enough  and the test totally non invasive, being a simple blood draw from your arm to warrant it. 

sidey1

I miscarried from a CVS test and it will mourn that loss and the choice we made forever. We received bad advice from our Dr and decided to do it even though we had no real risk factors to be concerned about for the exact reason you mentioned, we felt we needed to be prepared for whatever.  

 We had great NT results last time so didn't bother with additional testing and did Maternit21 this time, my dr said even if we had bad NT results this time, the Maternit21 would override it because of the higher accuracy rate. I would only do an invasive test if my Maternit21 came back positive, and further screening came back bad, there are just so many other options these days, it's not worth the risk, trust me...

jerseygirl227

We didn't opt for the amino. I, too, was concerned when I saw the miscarriage rate.  I did do the blood test, which showed low risk.  

I, too, work with special needs kiddos.  So, yeah, even if something came up, we were going to continune with the pregnancy.

marijaa333

I had an early CVS and would do it again. I would recommend reading the discussion on a thread I started when I was doing the research -- it gives you a sense of different opinions and decisions.

https://forums.thebump.com/discussion/12441714/edit-did-anyone-go-straight-to-cvs-noninvasive-tests-how-do-they-differ

Ultimately, I thought the specific risk for me was worth taking.  It has to be your own decision in the end. Good luck! 

LittleRocket

Thank you all so much! Your responses are really helpful. I also followed the link and read the thread- thank you so much. I'm scheduled for an NT on Thursday. My doctor also is having me pick up lab skips to do the 1st & 2nd trimester blood work. I'm not sure what that's called off the top of my head. It's confusing that some things are the same test but with different brand names. So, here is the 2 big questions still on my mind:1 what are all of the non-invasive tests that I might consider getting vs which ones are duplicative? 2 if I do only the non-invasive tests, knowing that they have a lower accuracy, what are the specific diseases that an amnio tests for that are totally missed by the non-invasive tests? Thank you thank you thank you!

marijaa333

NIPTs are not the same in terms of methodology. This presentation may help (see the middle slide on p. 10 in particular):

https://www.agt-info.org/Documents/2014 Annual Meeting/HANDOUT Strom.pdf 

They are quite accurate for certain aneuploidies (in particular Downs), but not all.  It comes down to this: do you need to know with over >99% certainty based on a very well known methodology, with a small but real risk of miscarriage, or are you ok with 92% or so certainty based on a new methodology, but with no more risk than any blood draw.

cneiding

LittleRocket said:

1 what are all of the non-invasive tests that I might consider getting vs which ones are duplicative?

So there is a test that can look for Trisomies.  It does Downs and a few other what would be considered common ones.  Its one test that cover all those, one lab fee.  Its the one that has names like Materni21, Harmony or Progenity.
Now many insurances DO NOT cover this test currently.  Progenity was offering a special some months ago when I got it.  If you insurance covered it,they billed for it.  If not, it cost YOU only $25 to have it done out of your pocket.  The test was not covered by my insurance...it cost normally over $4,000! I will only have to pay $25.  So, make sure your insurance covers the test or they have some special deal like that because they are expensive!!!! 

Also, you can get a simple blood draw to test for spinal bifida.  Its gives you a number score and accesses your risk factor, basically. 

There is a test for fragile X (the leading cause of mental retardation) and one for cystic fibrosis.  Also things like sickle cell  and thalassamia. 

There is the quad test which is what was the standard thing everyone got up until real recently with the new Harmony etc tests I mentioned first.  Now more are going with the Harmony etc because its much more accurate. 

LittleRocket said:

 2 if I do only the non-invasive tests, knowing that they have a lower accuracy, what are the specific diseases that an amnio tests for that are totally missed by the non-invasive tests? Thank you thank you thank you!

I am not sure if the amnio does check for things outside of what you get look at for in the blood draw tests.  I think people use the amnio as a second opinion if they get both.  Either just to get further confirmation everything is fine or if something comes back negatively, it confirms that diagnosis. 

ALso, like I mentioned, many insurances are NOT covering those blood tests.  Amnios are most likely covered.  Sometimes it just a financial decision. 

marijaa333

I am not sure if the amnio does check for things outside of what you get look at for in the blood draw tests.  I think people use the amnio as a second opinion if they get both.  Either just to get further confirmation everything is fine or if something comes back negatively, it confirms that diagnosis. 

With amnio and CVS, you can ask them to look for all kinds of things, but you'd need to know what to look for (e.g. a specific genetic disorder that may appear in one of your families). They can't test for everything under the sun (other than check that each pair of chromosomes is intact), but they can look for specifics if they know which specifics to focus on. Hope that makes sense.

LittleRocket

This is all soooo helpful. Thank you! I will check out that presentation. I really appreciate you all taking the time to lay some of this out. For some reason my doc didn't offer the NT. I learned about it at the genetic counselor. I called my doc for a referral for it & the nurse sounded very annoyed & asked if I still wanted the amnio & did not sound happy when I said I don't know. Maybe I'm reading too much into it. I know it needs to be a decision my DH and I make, even if it pisses off my doc/nurse.

cneiding

Yeah, it IS you choice!  If you don't think your Dr and you will see eye to eye on matters regarding your pregnancy...now is the time to find a new one!!  I used a dr for my 5th child and liked her alright.  She ended up leaving the practice by the time I got pregnant with my 6th.  I never was informed she left and when I scheduled my first prenatal at that office I said who I was a patient of and wanted to remain a patient of hers.  Well, they don't say a word and schedule me with the other dr.  I didn't even know she was gone until I arrived at the office for my appointment and saw only one Dr's name on the door.  I asked at the front desk and they said she was gone!  After the first appt I knew this dr and I would NOT get along (I suspected it before the appt knowing what i had heard from others).  He only was going to let me gain 10 lbs in pregnancy (I am NOT overweight) because I had big babies prior.  Well I had no problem delivering them..none.  And if I went over 10 lbs it would be an automatic c section!  There were other things he said but that was the main annoyance.

Found myself a dr who cares about what I want! 

jerseygirl227

cneiding said:

Yeah, it IS you choice!  If you don't think your Dr and you will see eye to eye on matters regarding your pregnancy...now is the time to find a new one!! 

Found myself a dr who cares about what I want! 

Absolutely change doctors if they seem annoyed with you already.  Definitely not worth the drama, IMHO.  

My docs have ALWAYS given me the options and have stated that it is my choice.  They have been very good about that.  I drive a little further to go to their location, but it is definitely worth it.  I have seen a few different docs on staff and all have been wonderful.