Quad-screen results in, looking for advice

MiahT

My OB received my screening results today and it's positive for Down Syndrome - 1:42.  I'm getting a referral to have a level 2 ultrasound in a few weeks, which I know won't give me a definite yes or no as to whether the baby will have DS or not, but I would like to see if the odds improve or get worse.  I'm not sure where to go from that point.  DH and I have decided we're keeping the baby regardless, and I'm concerned about the risk--however slight--of miscarriage associated with an amnio.  However, we would also like to be as prepared as possible if there is a chance that LO is going to have special needs.  I want to have as much ready ahead of time as possible so we can concentrate on the LO once labor begins.  I guess my question is, in my place, would you go ahead and get the amniocentesis? 

abarber2012

First of all, hugs!!! Thoughts & prayers for you and your little one. I have heard of people having false positives and everything turning out fine. I would do an amnio just to ease your mind. That way you are prepared for whats to come. No matter what, your baby is a gift and its great that you are in that mind set.

aprillle

This happened to me back in January - and I was so worried and upset.  First, let me tell you that I found out that the Quad screen isn't considered to be the best test and I was told as well that the baby was positive for Down's.

We did go do the Level II ultrasound (which is awesome by the way - the detail that you can see is amazing, everyone should get to have a change to have a level II ultrasound done)  and after much debate, worrying and talking with the Peri who would do the amnio decided to go ahead with it.  We had one other factor in our decision in that the baby's ventricles are mildly enlarged which is considered a marker and that really pushed us over to deciding to go with the amnio.

Honestly, I found the amnio to be painful.  But I was so nervous and wound up about it I am sure that made it worse.  If you do one, try your best to keep your cool and rest the next day!  Everything ended up being fine and the baby does not have Down's.  But because of the ventricles we did end up doing a Fetal MRI and once again everything is good - doctor's just think this is the way he is made.

Don't feel pressured to do the Amnio if you don't want to - we did it to have more information on what was going on with the baby and to have a plan for after the birth if we needed it.  Plus, knowing more information took the burden of worrying off of me because I would have been a mess the rest of the pregnancy not knowing what was going on. 

 

FyreFlyeRush

Id get the amnio. You'll feel so much better regardless of the results. Amnio risk 1:1600 that far outweighs the 1:42 DS chance you have.  A lot of people worry about the miscarriage risks, but they forget EVERYTHING you do from taking Tylenol to drinking a cup of coffee to driving your car and getting in an accident has a miscarriage risk.  It's a personal decision, but as someone who would not have terminated, I can tell you knowing 99.999999999% was worth the two days of sneeze and poo fears. 

stever

I would get an amnio with those numbers. My rule of thumb with both of my pregnancies is to trust the experts - if they said my NT numbers were bad then I would have totally had an amnio to better prepare myself.

amandaleigh1

I am not sure where you ate located, but two new tests may be something to consider: maternit21 and verifi. They can detect ds with nearly the sensitivity as amnio and it is non invasive. I did maternit21 for peace of mind. Results took about a week.

leffe1

My results were 1:41 based on my NT bloodwork. Overall risk was 1:74. I am a need to know person and had the amnio. I wouldn't have terminated either but I wanted to be prepared. Plus, I couldn't go through 6 months of pg thinking "what if". The results of my amnio came back normal.

So, I think you know how I would answer your question. Good luck to you with whatever you decide.

benoitfan

If my numbers turn out to be like that, I will have an amnio.  The two blood tests are not available here (to my knowledge).   They don't even do amnio or CVS here.  I'll have to travel about a hour away to get it done, but they are pros who do these procedures all the time, so I am ok with that.  Based on my NT measurement, I am feeling pretty good about our risk for downs syndrome and I hope that when the final numbers come out we won't have to worry about it.

Whatever you decide to do, it will be the right decision for you and your family.  Hopefully the level 2 u/s will clear everything up and you won't have to make this decision.  GL.

Adi

First - breathe... it's not positive for downs, it's positive for your baby being at a higher risk for it. 1:42 still means that 41 babies with those odds are perfectly healthy.

Now, if I were given those odds, I would do an amnio, it will tell you without a doubt if the baby has downs. The risk of miscarriage from amnios is so low, and it's mostly due to infection, so go for it, and make sure you follow the after care instructions to a T. You should be fine.

Big hugs!

rain1106

I had a 1/40 based on my bloodwork and nt scan...We decided we would keep the baby even if she had downs but decided to get the amnio because the worry through the pregnancy would be to much...at the scan the ultrasound showed a spot on her heart the odds went to 1/25.  We did the amnio and although it did hurt a little it wasnt to bad.  we had to wait the full 14 days that was much harder.  On Monday we got our results that everything was normal.  Its a personal choice but I would have drove myself crazy not knowing.

pb_bride

::lurker here::

I echo what another poster suggested upthread - can you get the MaterniT21 blood test in your city?  It's a blood test and is >99% accurate for detecting T21 & T18.  I'm 38 (39 when I deliver) and chose to take that blood test in addition to my Integrated Prenatal screen.  Although my IPS came back with pretty good odds (for my age), having the additional negative results back from MaterniT21 gave me more assurance.

Since you have to wait a couple of weeks for your level II, you can do the MaterniT21 in the meantime.  It takes about 8 biz days to run.  Most PPO insurance covers it (some w/$235 OOP), whereas HMO doesn't (in my case; I paid $475). 

Btw the MaterniT21 and the Level II, you should be able to get more data regarding your odds; and then you can decide if you want to go for an amnio or not.

If you do choose to do the amnio, make sure it is done by an experienced physician at a place where there is a high volume of patients.  If I were to get an amnio, it would have been at the MFM dept of my hospital where the doctors do a ton of it.  GL to you!

terrichael

I wouldn't have gone for the amnio, even with your odds, OP. If they have MaterniT21, you could ask about that. You could always ask your doctor what the pros are for having an amnio, like what "preparations" will you be making if amnio shows that your LO has DS. It's such a personal choice and I wish you GL. Sending you hugs.

benniferbaby

I would have the amnio with those results. I would want to know for certain what we would need to prepare for, and the only way to do that is amnio. The miscarriage risk differs depending on where it is performed, but it's generally very low.

StaceySMC13

My risk was 1/70 so I am having the MaterniT21 test on June 6.  I personally don't want a needle in my abdomen.  My nurse said that as long as I give them a check or a credit card on the day of the test for $235, that's all I have to pay.  The company that runs the test is eating the cost of the test over 235 even if your insurance doesn't pay the cost.  I don't know how long it will take to get back but I didn't want to wait for the amnio anyway.  

MiahT

My DH is military and I'm not sure if our insurance will cover the MaterniT21, I'm not even sure if our hospital has that option.  My next OB appointment is in two weeks and I'll talk to my doctor about it then.  My doctor seemed to be encouraging me not to have the amnio last time we talked, but she might have just been trying to make sure I understood that there were risks involved just in case the worst happened.

pb_bride

MiahT:

My DH is military and I'm not sure if our insurance will cover the MaterniT21, I'm not even sure if our hospital has that option.  My next OB appointment is in two weeks and I'll talk to my doctor about it then.  My doctor seemed to be encouraging me not to have the amnio last time we talked, but she might have just been trying to make sure I understood that there were risks involved just in case the worst happened.

Can you call back your doctor's office or the hospital to find out if it's being offered?  If it isn't, you can call Sequenom (the company that does/runs the MaterniT21 test) to find out if and where it is offered in your area.

Also, is there a genetic counselor affliated with your OB office or the hospital?  In my situation, I *have* to meet with the genetic counselor before I can get the Maternit21 test.  The genetic counselor may be more familiar with the test than your OB.

As I said upthread, my insurance does NOT cover it, but Sequenon basically charges $475 for those of us that aren't covered.  The test itself normally costs $2000+.

GL!