Help with your expertise-Amnio

kef1274 · April 2010

I had the big u/s today, and before these, we were given an "abnormal" down syndrome rating of 1:116. During the u/s, he said she has a choroid plexus cyst in her head, that is also another indicator. He said, now our risk is somewhere around 1:75. All other indicators are normal. I'm so upset... the doctor even said, he would not recommend doing the amnio now, as it's better not to take the risk so early. He said we could do one at 34 weeks, and that way if the amnio cause pre-term labor, at least the baby could survive.

I'm just heartbroken, I don't know what to do. I want nothing more than a healthy baby. I'm at a loss on what to do, or even stop myself from worrying about this. My question is, what is your opinions on getting the amnio? Also, we will not do anything with the baby, just wondering if it's better to be prepared.

KMom14 · April 2010

First of all, I'm sorry you have to go through this. I know how incredibly stressful it is. Your story sounds really familiar to ours.

At our "big" ultrasound, they found that our son had a heart defect. We went for a fetal echo to see it better & ended up having weekly ultrasounds to monitor various medical issues that came up. With all of the factors, they started talking about it being related to a chromosomal abnormality (though Ds was not the only one that they were talking about). We discussed it in depth, and declined having an amnio because we knew it wasn't going to change anything, and I didn't want to risk the pre-term labor (I was 33 weeks at this point).

In retrospect, I'm still not sure what I would have done in regards to having an amnio. Going through 5 months of not knowing and wondering if our baby would be healthy nearly KILLED us...it was so tough emotionally. I think if I had known for sure that my son would be born with Ds it would have given us time to sort through the emotions together, and to tell our families beforehand...though I feel like we still went through the emotions & prepared ourselves because the suspicion was so high anyway. On the other hand, once I had my baby in my arms & had fallen head over heels in love with him, hearing the "official" diagnosis of Ds (rather than just a suspicion) didn't hit us as hard. Also, our son was born totally healthy, without any of the medical issues that came up during pregnancy (even his heart defect healed itself!), so we were just so grateful that he didn't need surgery or anything. But again, that's just our experience. Everyone handles it in a different way, and no one decision is right for everyone...it's just something personal you need to decide. Good luck!

azaretsky · April 2010

I had a CVS done (basically, the same thing as an Amnio, but done earlier in the pregnancy) to find out whether DS had CF, since both DH and I are carriers. The procedure itself wasn't bad at all, I was only a little dizzy afterwards and had to take a moment and have some juice. It didn't hurt of anything. And DS ended up healthy, thank G-d. I hope the same is true for your LO!!!!

I think if I were in your shoes, I wouldn't do an Amnio at all. I don't really see the point to do it at 34 weeks as your doc is suggesting. By then, all you'll have to do is wait a couple of weeks and just meet the baby. If you want to be prepared, I would just start reading up on the subject and perhaps find good pedis around you with that kind of experience.

Good luck, and your baby will be perfect!!

Crazycrustacean · April 2010

I'm so sorry you have to go through this. My ob took my 2nd tri b/w & told me my afp was low. That took me from 1:416 (for my age) to 1:125 for downs. I debated the amnio & the genetic counselor told us that the reason they like to do the amnio earlier if to allow the parents a chance to elect termination of the pg if that's what they wanted.

We chose not to do the amnio then & instead chose to get a level 2 u/s instead. He has no soft markers except for a heart defect. We got a fetal echo and it confirmed that he has tetralogy of fallot. We are now getting the amnio at the request of the cardiologist. The genetic counselor said it's actually easier to get the amnio later in pg. It hurts less apparently & it's easier to get the fluid.

Having said that, if my chances were 1:75, i'd get the amnio now.

OctBaltBride · April 2010

My DD had CPC. We went back a month later for a level 2 ultra sound to see if the cycts were gone and to check her heart. Her heart was fine and the cycts were gone. We too were told that we could do an anmio but I was pregnant with twins and we didn't want to risk it. Besides, that was the only marker she had. I know CPC can be a market for DS and Trisomy 18. My question to you is if you go back in a month and the cysts are gone is it still a so called marker? I guess I am saying do you know if babies with DS have CPC their entire life or do they go away.

kef1274 · April 2010

OctBaltBride:
My DD had CPC. We went back a month later for a level 2 ultra sound to see if the cycts were gone and to check her heart. Her heart was fine and the cycts were gone. We too were told that we could do an anmio but I was pregnant with twins and we didn't want to risk it. Besides, that was the only marker she had. I know CPC can be a market for DS and Trisomy 18. My question to you is if you go back in a month and the cysts are gone is it still a so called marker? I guess I am saying do you know if babies with DS have CPC their entire life or do they go away.

Was she ok? The research I've done has said that these CPCs on their own are ok, and they do not indicate DS or not. I think it's just with my higher risk already on the ultrasound, this is just another thing to add to the worry. I haven't seen anything yet that said they stay or don't stay.

OctBaltBride · April 2010

She is fine. When we found out they said they wanted to check her heart to see if there were any defects. They checked a month later and the CPC and they were gone and the ECG was fine. It has been 3 years but I think the odds before the anatomy scan were 1 in 1200 and then after it was like 1 in 500. My OB wasn't too concerned b/c he said she has no other makers that would indicate Trisomy or DS. I know anything can happen but for whatever reason my OB didn't seem too concerned. I have a friend whose sisters child also had CPC in-utero and they went away and she too was fine. I am sure you are scared and don't know what to think!!

Matkinson08 · April 2010

I have to agree with Auntie on this one. I opted for the amnio at 22 weeks for dx confirmation. We wanted to know for sure so we could prepare. My uterus contracted hard as soon as the needle hit it and they almost gave up but they said if I was up to it they'd try one more time, that time I contracted again but they managed to get the needle in. It was the longest two weeks ever but we got the answer we were expecting. We then had 16 weeks to grieve the normal child/life he would have had and when he arrived we were so happy and in a better place for having known what to expect. And I had absolutely no after affects from the amnio, went home, rested that afternoon and not so much as a spot all the way to my induction. HTH.

kef1274 · April 2010

I'm so confused, as I'm sure you can all understand. I even spoke to our pediatrician about it today. She agreed with the doctor, saying that if we weren't going to "do anything with the pregnancy", then we should just prepare ourselves, but not do the amnio. My husband does not want to do it, I do so I can get some peace either way. What a decision!

JOEBunny · April 2010

I am surprised by your doctors advice against the amnio. My SIL found out that my nephew has a defect that often is accompanied by a more serious complication when she was 20 weeks and immediately had an amnio. I had a CVS within days of being told I had 1 in 3 chance of downs. I would honestly seek another opinion or challenge your doctor on that, if it is something you are wanting to do. There are all kinds of reasons why it is good to be prepared for having a child who has any sort of special need, from daycare to simply lowering the stress level at birth and after.

kef1274 · April 2010

I think for me, I'm so terrified that something bad will happen as a result of the amnio, that I'm opting out as well. I don't think I could live with myself if the amnio caused me to miscarry. I know the risk is so small, but there is always that 1, and I'm so afraid that will be me. Thank you all so much for your opinions on this, I appreciate it more than you know...

bethbeth · April 2010

At 17 1/2 weeks we found out that our baby's left arm is not developing correctly and he also had a heart rate arrhythmia. We knew we wouldn't terminate regardless of the outcome, but we decided to have the amnio to prepare ourselves for the possibility of a severe genetic problem and to give the drs more info (our delivery plan would change depending on dx). We had a very experienced perinatologist do the amnio. She didn't pressure us either way and after talking to a friend who is a dr we felt very comfortable going forward. I think it's all your personal opinion and I'd definitely check with another dr if you can.

ETA: I had the amnio at 17 weeks 5 days and had little discomfort from it. It was for my current pregnancy.

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