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2nd Trimester
amnio ?? quite scared
I'm 17 and 6 days pregnant.. this is my first baby.. I'm 34 years old.. my husband and I were enjoying a great pregnancy until 4 days ago my dr. called and told me that my blood work showed that I am high risk for having a baby with DS. The only way to find out for sure is to have an amnio. I don't know what I should do??? I'm feeling a million things at once here. I'm wondering if anyone else has also been said to be high risk? I'd love to hear from other women going through this same thing.
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Re: amnio ?? quite scared
that is the scariest thing ever...this happened to me at 17 weeks, first baby, high risk of DS (i'm 29yo). after i heard the "high risk" news, i felt deflated. all my excitement was gone from the pregnancy, and i was terrified. so sorry you have to go through this as well
we decided to go ahead and get the amnio, not that it would have changed still having the baby, but for the simple fact of knowing to be prepared, or knowing for relief. i had an hour long chat with my doctor about it, and asked him, point blank, what he would do in my situation. he said that he would have the test done, so we went ahead and did it. the procedure was a bit painful, but only lasted a minute. it was the next 10 days waiting for test results that were scary. the preliminary tests came back fine, as did the chromosonal match up, and we were both totally relieved.
a couple of weeks later, we were scheduled to have a sonogram to find out baby's gender. the nurse called to reschedule it because of meetings or something. at this point, i was so anxious to find out what we were having, that i called the doc that did the amnio, and they said beyond a shadow of a doubt we were having a little girl
sometimes great gifts come disguised.
don't be scared, really. it will help set your mind at ease, or help prepare for the future, or both.
I wasn't at risk for DS, but I am a pre-mutation carrier for Fragile X Syndrome--essentially I carry a gene that could "turn into" FXS, which results in mental retardation. My doctor told me it wouldn't be a big deal if the baby were a girl (the weak spot in my X chromosome would most likely be counteracted by my husband's healthy one), but a boy who inherited a mutated gene could have issues. We waited on the amnio until we found out the sex of the baby. Turns out we're having a little boy, so I scheduled the test.
Not going to lie, I thought it hurt and was uncomfortable, stressful and emotionally and physically draining.
That said, it's quite safe (safer, my doctor said, than the most recent statistics would indicate) and it's not a procedure that has a lasting physical toll on you. Also, my results came back relatively quickly (thankfully, great results) and just knowing one way or the other is a huge, huge relief. I don't think any parent is ever fully prepared for any baby, but getting the results of the test at least let me feel like I had a better idea.
Good luck to you!
Ditto this...the most commonly cited statistics are from about 20 years ago. We now have better technology, including highly accurate ultrasounds, that make it much safer. I didn't have an amnio, but I did have the CVS test. It was important to me that I have all of the info I possibly could about my baby's health. So if I were you, I would probably get it done. If there's nothing wrong you don't have to worry and if there is you'll have plenty of time to prepare. Good luck with whatever you decide to do.
I also received high risk results for DS from the quad blood work and had pretty much the same experience as what everyone else said.
You can either wait until your anatomy scan to check for soft markers (like a PP said, shortened femur, small nasal bone, possible heart issues, et cetera), or can get an amnio. We decided not to wait and to get the amnio after we found out. Yes, there are risks with an amnio, but for us, it was more likely that we would have a DS baby (quad came back 1:43) than for us to lose the baby to an amnio (worst ratio I've seen is 1:250 for a complication, but I have researched that the loss of a pregnancy from an amnio is more like 1:800). It is uncomfortable, but we needed to know one way or another. Ours came back negative for DS or any other chromosomal abnormalities; I cried so hard when I got the call that all was fine because there really is no better news anyone can ever, ever give you than your baby is perfectly perfect down to it's genetic core.
Don't let people convince you that an amnio doesn't matter if you won't terminate based on the results, that is not the point. We loved our baby no matter what the outcome of the amnio, but if she did have DS, she made need extra monitoring in utero, and we considered moving closer to home where there is an amazing DS school and where we would have friends and family to help us. It had NOTHING to do with whether we would terminate the pregnancy or not.
Please PM me if you have any questions or just want to vent. It is really scary, I completely fell apart for the 2 weeks between the call that we were high risk and the call confirming the amnio was negative. Hang in there!
With ds1 our blood results came back elevated for ds. We had a special ultrasound (can't remember name), it was then that the doctors said our chances were minimal....again can't remember the odds. Based on that we decided not to have an amnio. DS came out perfectly fine! We've had several friends who had concerns with the blood test and their children were all fine.
Best of luck to you!
I had an amnio done last Wednesday. We were told after the anatomy scan the the baby has 5 soft markers for genetic abnormalities. After many tears and much discussion we opted to get the amnio.
We chose to pay OOP for the FISH test. The FISH gives you a 24 hour turnaround on trisomy 13, 18, and 21, and well as the X and Y chromosom disorders (like Turners and Kleinfelters). You still have to wait 10 days for the complete results, but the FISH came back with everything normal.
It is terrifying to think that something could be wrong with your baby when you are in the moment. The things that go through your head, the confusion, those dark palces you mind goes to, the emotions...it is awful. I said that those 4 days between being told something was wrong and getting the FISH results were a level of hell.
Please PM me if you want to vent or talk. It is incredibly scary, but you are not alone in this. Unfortunatey, there are a number of us that have this shared experience. You and your LO will be in my thoughts.
We are going through the same. My test came back with an increased risk, we saw the genetic councellor on Friday and on Tuesday, I'll go in for the amnio.
I have to say, I feel much more confident after the talk on Friday. It sounded reassuring. I still need to know, though.
From what I read, you can compare the amnio sensation with a blood draw - so not painful, just not pleasant. The risk they quote is much lower than you read in most statistics. I feel pretty good about it, even though it is still scary.
Keep us updated...and feel free to PM me if you feel like it. I am in the same boat.
In your case, I would ask to meet with a genetic counselor to assess your risk and talk through the pros and cons of any testing. 1 in 3 is much different than 1 in 1,000. For us, an amnio would've given a 96% certain result and a level-2 US gave a 90% accurate result. For us, the extra 6% was not worth doing the amnio.
With a risk of DS, it sounds like you had low AFP. My baby came back with high AFP when I took the test too early. The first thing we did was retest at 16w. My results again showed high AFP and thus a 1:160 chance of an NTD or Trisomy 18. After talking with a genetic counselor, who was ready to do an amnio that day, we decided to wait until after our level-2 US to make any decisions. Our thought was that there is no risk with an u/s but amnio has a risk of loss. Nationally it is 1:200. The dr who would do ours is 1:400. I wavered back and forth on what to do, but DH just could not accept that level of risk. So, I yielded to his opinion knowing that we could always change our minds on the amnio. After a normal level 2 u/s three weeks later, our risk factor changed to 1:1600. LO was born perfectly healthy.
I remember how brutal the period of uncertainty was for me, especially since high AFP is associated with fatal conditions (the good news is that low AFP is not), so I don't want to diminish your emotions, but do know that this has a much better chance of being OK than not. Most babies with abnormal AFP results will be perfectly fine. The person who mentored me through our scare had low AFP and a risk factor of 1:75. Her child also was perfectly healthy.
P.S. There seems to be some evidence that in healthy pregnancies, slightly abnromal AFP (like what I had) may just give a clue to the sex of the baby. Low AFP may =girl and high AFP may =boy.
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