Adivce Needed

JesscanTri

Hi Everyone! I just wanted to get a little advice about amnios and something that is still weighing heavily on my mind. I am currently 23w2d pregnant. I had an NT scan and completed the quad screen and level II u/s. At my NT scan, the baby had a nuchal fold of 1.8mm. I was told this was high for the office and increased the risk for ds. In addition to this, I had elevated estrogen and these two factors combined gave us a 1:8 chance of ds. I then had the quad screen done and the pattern wasn't typical of ds (not low-low-high-high), so they raised the odds to 1:75. At the level II u/s, everything was normal but the baby had echogenic bowels. The doctor thought it may be because of spotting I had in the first tri. He didn't seem too concerned and didn't push us to an amnio and didn't even recommend follow-up. However, because of this, the doctor would not move our risk. Since there were no heart defects and no additional soft markers, my husband and I declined the amnio. We just couldn't face the risks and were ready to move on with the pregnancy. I know that there is a probability that my LO has down's and am thinking about getting the amnio later in my pregnancy just to know for sure and be prepared. Has anyone had the amnio later in pregnancy? Also, I don't hear much about echogenic bowels on the Bump boards and just wonder about other people's experiences. Thanks for listening, I think I just needed to get this all out.

lboers

i had amnio done at 27 weeks. it wasn't for down's but there was a 50/50 chance that my baby had a genetic disorder. we went back and forth on whether we should do it or not (although in my mind i always kinda knew i had to for my own sanity). my husband wanted to avoid it if we could, saying that if it resulted in her coming to ealry and not surviving and then finding out she was fine to begin with, he could never forgive himself. this is why we waited. i waited as long as i possibly could to give her the best chance of survival if she did come early.

the amnio felt like a VERY routine and safe procedure (especially compared to everything you read about it). yes there are risks, but they are small. my baby does have the genetic disorder that we suspected and we are glad to know and are so happy we had time to prepare. i honestly can't imagine finding out at birth all the difficulties she may have.

good luck in you decision!

JesscanTri

lboers:

i had amnio done at 27 weeks. it wasn't for down's but there was a 50/50 chance that my baby had a genetic disorder. we went back and forth on whether we should do it or not (although in my mind i always kinda knew i had to for my own sanity). my husband wanted to avoid it if we could, saying that if it resulted in her coming to ealry and not surviving and then finding out she was fine to begin with, he could never forgive himself. this is why we waited. i waited as long as i possibly could to give her the best chance of survival if she did come early.

the amnio felt like a VERY routine and safe procedure (especially compared to everything you read about it). yes there are risks, but they are small. my baby does have the genetic disorder that we suspected and we are glad to know and are so happy we had time to prepare. i honestly can't imagine finding out at birth all the difficulties she may have.

good luck in you decision!

This is exactly how I felt and a large part of our reason for not pursuing the amnio. As I get closer to 30 weeks, I might feel more comfortable with the procedure. As you say, part of me just can't imagine finding out at birth that the baby may in fact have ds. Thanks for responding!

lboers

no problem. it is a tough decision, but looking back, i'd have it no other way. it helps to have a supportive husband as well that understands what no knowing does to you everyday. not only is it good to be mentally prepared but it is also helpful for the doctors to know in advance so they can plan the best possible care for your baby. we are lucky because now, with our baby's diagnosis, we have a pre-arranged "code blue" for her arrival. we will have all kinds of specialist doctors in the room when she is born to have things taken care of right away,

good luck again, and i hope you have the results you're looking for!

soontobeahigh

My NT scan gave us a NF of almost 6. That combined with my blood work gave 1:10 odds. We had more blood work at 15 weeks and it gave us odds of 1:75. We had an amnio at 17 weeks, DD does have Ds. When we had our ultrasound before hand, she had no markers except measuring a day behind, so really nothing.

My amnio went well, I had some cramping that day and was back to normal the next day. We got the FISH results in less than 3 days and full panel results in 7. Amnios are such a personal choice. I have met many a mom that knew beforehand and some that found out at birth. Regardless, they love their babies, and it sounds like you will too!

This is the perfect place to get it all out. Also, if you haven't already, check out the Babycenter.com boards. They have an amnio board and the women there are great. Best of luck to you!

rsd12

I am sorry you are going through this!  I had an amnio with my first at 23 weeks.  Not for Downs but for another birth defect that was not found until the 20 week big u/s & we were not sure if there were other syndromes associated or if it was just isolated.  It was the best decision for us!  While I do not like the idea of the amnio, it helped us prepare for our childs birth/life.  I did not have an amnio with my next 2 children because all of the non-invasive testing came back normal. But I would have done it again.

JesscanTri

Thanks everyone for your advice! It is something that we have to really think about. No matter what happens I love my little guy so much and nothing will ever change that. I am already mentally preparing myself for what life may be like if he does or doesn't have Down's (although I will never know either until I am living it). Thankfully, my husband is an extremely positive force in this relationship and is helping me deal with the uncertainty.

Falioley

Well, Dean has a genetic disorder that cannot be tested for prenatally, so we found out at birth. Honestly, I'm glad I didn't know beforehand. I didn't have a choice, obviously, but I'm glad I didn't know. We had a chance to see him and know that he was struggling and figure out what was going on. I didn't worry much beforehand because I didn't know I should be. My guess would be that even if you did not beforehand, it would still be a bit of a shock at birth to see that it's really happening, you know? 

That's our story.  

JesscanTri

Falioley:

Well, Dean has a genetic disorder that cannot be tested for prenatally, so we found out at birth. Honestly, I'm glad I didn't know beforehand. I didn't have a choice, obviously, but I'm glad I didn't know. We had a chance to see him and know that he was struggling and figure out what was going on. I didn't worry much beforehand because I didn't know I should be. My guess would be that even if you did not beforehand, it would still be a bit of a shock at birth to see that it's really happening, you know? 

That's our story.  

Thank you for sharing your story with me. You are completely right and and I have wondered this too. Would knowing really help me understand everything? Would it really help me deal with everything the first moment that I see him? I don't know if that's how I work. Maybe I am sticking my head in the sand or being selfish, but part of me feels like I should just leave it alone and try to embrace these remaining 16ish weeks of my pregnancy.

mackislandbride

We found out about DD limb abnormality and CHD at our 20w u/s and they pressed for us to do amnio to see if there was a genetic link or other genetic issues.  We declined, we felt we were facing enough with the dx at that point and we also did not want to risk PTL.  We were pressured for the amnio up until I did have a c-section at 31w, one dr. even lied to us and said they wouldn't do any genetic testing that the amnio was just to check to see if the baby was anemic.  I'm glad we didn't do the test, and in the end they used her cord blood to run intensive genetic panels and all came back normal, so the is no explanation for her CHD or leg and no connection between them, just two flukey things happened during development.

duchess0727

I had my amnio at 30 weeks.  They discovered she had enlarged kidneys and a heart defect at 26 weeks.  I declined the amnio at that point because it wasn't like I planned to do anything but continue the pregnancy. At 30 weeks, they told me that she was really small and had some facial and other indicators (small hands, feet etc) and thought she had Trisomy 13.  I did the amnio because I needed to know if my child was going to survive the delivery or die shortly after.  So I did it - it was very routine and painless.  The hardest part was waiting for the results - I did it on a Wed so we didn't get the results until the following Monday.  She didn't have it - all of her genetic tests (there have been many) have come back normal.  If your doctor has concerns and you feel you need to be prepared, than I would do the test.