Abnormal Findings in 19Week Ultrasound, Suggesting Chromosomal Defect

Amnio is easy. Painless and extremely low risk. You hear a lot about scary blood test results here on Mamapedia but not so much about physical markers found during US. Sounds like they found 4 markers out of 10? I am a numbers girl and 40% is high enough for me to seek more information via amnio.

Good luck to you and your family and know that whatever choices you make are yours to make and only need to be right for you...Not for friends or family or the anonymous posters here.

I tested high for chromosomal defects, but through all the ultrasounds, my son showed no physical signs. I decided against the amnio, ONLY because he had no physical signs. The amnio, actually has a quite low occurrence of complications. I have known many friends who had the amnio. Mom and baby did just fine. In your case, it might be more imperative to get the amnio. If nothing else, it can help the doctor's prepare for what to do directly after birth. (should your child have defects) There is an entirely different procedure, when dealing with newborns with any kind of problem. I don't have my own personal experience with amnio, only seeing others get it.

Wow, I'm so sorry you're dealing with this. I don't know much about this, but I think you should consider the amnio. You will ultimately have to decide what is right, but even if you wouldn't consider an abortion (and even if you did, I would not judge you for that by any means) it doesn't mean you shouldn't have the amnio. There is a lot that can be said for mental stability. If your baby is already showing phsycial signs you have to decide if you want to know the results now or at birth. Things might come out fine either way, but you have to figure out what will help you cope the most. If your baby does have Downs there is a lot you could do to prepare youself for it now like just being mentally prepared and researching different options for resources. I hope all is well for you and Baby.

There was something about my daughter's pregnancy, 11 years ago suggested that her baby could have chromosomal defects and the doctor recommended an amnio. She was so anxious and decided to have it once she learned that it is a safe procedure with rare complications. They found that everything was OK and she was relieved.

Since the doctor is seeing some abnormalities I would want to have the amnio so that I would have a better idea of what to expect and as another mother mentioned so that the doctors will be prepared to provide the best care for the baby.

You didn't mention the possibility of termination but I would also want an amnio so that I could make a more informed decision about terminating or not. Even if you would not consider termination, the amnio is an important part of diagnosing and preparing for the baby's care and treatment. Amnio is very low risk.

My son came back as a 1 in 13 risk for Downs after the NT ultrasound, which measures the nuchal translucency. I elected to have the level 2 ultrasound along with an amnio. I had no problems with the amnio... it was very easy... and it confirmed that our son did not have Downs. I wanted to know either way. Regardless of the ultimate decision, for us, knowing in advance was the right thing. I would have been too stressed during the pregnancy otherwise, which is never good for the baby.

The specialists do amnios on a regular basis, so the risk of a miscarriage is very, very low. The decision should really be based on the kind of people you and your partner are... do you need to plan and want to have everything figured out beforehand? Or do you just want to see what happens and figure it out as you go.

Best of luck to you...

I am so sorry. I had scary blood test results with my second pointing towards a very high odds of Downs Syndrome, but we had clear ultrasound findings. It ws the wosrt moment of my life. Happily, I had a CVS to tell for sure genetically that it was okay and that the our daughter was not burdened with this.

I had a CVS since it was so early when I had the blood test, too early for an amnio. Overall, I did it because I wanted to know for sure and couldn't imagine waiting 6 months to know. Also, I felt it was my duty to have all the medical info at my disposal so the doctors and hospital could be fully prepared to care for my daughter. I am not saying the notion of "choice" didn't go through my thoughts a lot, but luckily it was not a choice I had to make. And I know that is not really the point of your question.

So I would be in favor of an amnio, assumning you understand the risks. I can only say I am so so so sorry you are in this agony. I would never wish this uncertainly and fear on anyone. Just remember, right now nothing is 100%. And if you hear results you don't want to hear, you do have the strength to make the right deciions for your family. Even if you feel like a puddle right now, you will get through it. I will say a prayer for you and your family and your baby.

PS - Just a memory to make you feel better. I don't know what risk/odds they put you at... but I was something like 1:20. Someone reminded me that is 19:20 odds that it is all okay. Also, if you had a normal blood test that is a good sign too.

Hi S.,

I am a mother, who 9 years ago was faced with a similar situation......97% of Downs with our second child......doing an Amnio was the only way to know for sure........they even told us if our baby was Downs, we would be given the opportunity to terminate the prenancy (cry, cry, cry).........

So.......of course we scheduled the Amnio asap........it wasn't that comfortable but it's a quick procedure, and we considered it well worth it. I mean 97% Downs!!!!! The chance were pretty good I was carrying a precious Down's baby........

After the Amnio, they told us they would call us in 3-4 WEEKS to allow for the genetics (or whatever) to grow to confirm (or not) if our son had Downs. 3-4 weeks is a LONG time to wait for results like that, and there were ALOT of emotions going through our hearts during the 1st week of waiting........all of course confirmed that no matter what the results were, we were keeping our baby. I mean, afterall, God would never give us something we couldn't handle, right? (cry, cry, cry.....)

3 1/2 weeks later a nurse called with the results.........very routine for her....."HI N., the results are fine.........have a nice day!" Gasp! I was speechless, and asked her to please be more specific....."what do you mean by 'fine' ?" Obviously 'fine' meant that our son did not have Downs.

S., as I'm typing this response to you, the emotions of anxiety, worry, and sadness are all coming back to me. I always said, "I don't even wish this situation my husband's ex-wife!" I am truly sorry for what you're going through.

Do the test.......you don't want to ever feel like "I should've done the test" throughout the rest of your pregnancy.......get it overwith.......after 9 years, I'm sure the technology has changed so much, so they are probably better at the whole process........

Whatever the results........you will make the best decision for you and your husband......whatever you decide you won't be judged on.........nobody can comprehend the emotions that you go through during a situation like this, and nobody knows how they would react or what they would choose to do unless they are in this EXACT situation.........

I will pray for you and your baby.........in the end, it will all be ok......I mean, "God doesn't give us anything we can't handle, right?"

I'll be thinking of you......try to stay strong.

Oh yeah......my "baby" started 3rd grade this year......with new glasses and new front teeth :O) He has a Down's syndrome classmate in the class next door.......I look at life differently since that whole situation. I'm sure you will too :o)

~N. :o)

I am so sorry... I know that you are probably worried sick. I have 4 kids, and with #4, we had similar worries, although they were a little earlier in the pregnancy. I hadn't really ever considered an amnio, but as soon as we thought that there might be something wrong, I wanted one. We don't believe that abortion is an option, so it wasn't about that for us - for me, it was about knowing what to expect, and preparing and educating myself. They do it in conjuction with an ultrasound, so they can see exactly what they are doing, so the risk is minimal, (although there still is a risk). In our case, there was nuchal fold thickness, and heart issues, but not the other symptoms. Through the amnio, we found out that he was just fine, no abnormalities. This was obviously a relief. (which we wouldn't have had without the amnio!) So my thoughts are to go for the amnio, either for peace of mind if everything is okay, or to be able to be prepared mentally and emotionally if there does end up being a problem. Good luck!

Please have an amnio, not only so you'll know, but so you can make any decisions you need to and if you have the baby, you AND your doctors will be prepared at the birth for any possible medical issues. Amnios in this day and age carry almost NO risk of miscarriage! Plus, this is all about your decisions and knowledge and preparation. I had an amnio and I'm glad I did -no issues at all! People who try to lay some type of head trip on you insinuating that only people who will have abortions get amnios are ignorant at best. Medically, it's the wise thing to do so if you do have a Down's baby, and there are heart problems, the NICU team can be there at the birth.

Dear S.,
I'm so sorry you are having these stressful results during your pregnancy. Dear one, what would your outcome be for your baby if the tests come back positive? Would you abort? I pray not. And, if not, is it worth doing the amnio and puting your baby at risk for miscarriage due to the amnio? Why were you against them before? Stick to your guns on this. While ultrasounds are nice, they are not always right in their assessment. I know how overwhelmed you must feel. I don't know anything about you, so I am not sure how to counsel you. If you have a faith in God, lean on Him and trust Him for all things, especially this. He is sovereign over all things. Nothing escapes His notice. If you don't know God or have a faith in Him, I'm not really sure what I can say other than that I am sorry that you are enduring this alone without His perfect peace. Blessings to you.

My motto is - Don't worry until you have something to worry about - easier said than done - but it helps.
Both of my pregnancies had "scary" ultrasounds that required follow-up tests and more ultrasounds - both of my kids are fine. Almost all of my friends that have kids had at least one scary ultrasound or blood test - we all bawled our eyes out on the phone with each other at one point or another. All of our kids are "normal." Some are cuter than others...;)
I would get as much information as you can from whatever tests are available to you and then get 2nd opinions on the findings.
None of the pregnancy books or magazines prepare you for how absolutely terrifying it is at times. hang in there, get as much support and hugs as you can.

When I was pregnant with my daughter in '08, I had all the same tests you've mentioned (AFP, EAFP, NT ultrasound), and nothing was detected re: chromosomal problems. I opted out of the amnio at that time, because I was worried about the effect it might have on my pregnancy and didn't want to risk it (I was 38 at the time and knew that it was likely that this might be my only pregnancy). I knew that if the tests indicated Downs, I was prepared to handle it (I worked in social work for years, and had the pleasure of working with some adults with Downs. They were wonderful.) I wasn't so whether I could have handled other chromosomal problems (such as Trisomy 18). I can appreciate the feeling of being overwhelmed, though. You are in my thoughts. It's best to get the answers you need from the specialists that can give you some answers. I know that with Downs Syndrome, the issues/challenges can range from mild to severe, and I don't know whether the test results can tell you anything definitive at this point. I hope that you can get the information and answers that you want and need, and that you remain hopeful and excited about the future. Best wishes. SM

I had amino and it was fine. It did not hurt the baby or me, and you get to watch the baby on ultra sound. It helps you prepare for the child you are going to have. You are able to get ready if the baby has special needs.
Good luck
J.

Hi S.,
I would do the amnio. Your baby is going to be perfectly healthy, but it will most likely make you and your husband feel better. Good luck and hang in there mama!

Hi S., well first off as hard as it is....try not to get too worried until you know all of the details. I was told with both of my pregnancies that my boys were in the high numbers for possible downs...neither of them have it. I decided to do an amnio with both and really felt better after I knew. Of course I had tons of time to think about what my stance was on my pregnancy before having the amnio and knew what my "thoughts" were either way it came out.
Please keep us updated on how it goes and if you need some people to vent to, or to scream at, or to jump for joy with...us Mamapedia mom's are here!! :)

good luck
K.

For me, Amnio was recomended because of my age. I was not opposed to one, so I just went and had one. (2 actually). It was no biggie for me. The precedure is uncomfortable, and there is mild cramping after, and the result is definitive answers. Downs is not the only chromosomal defect. I never decided if I would terminate the pregnancy if my baby had downs. I just let things unfold. Remember, God never gives you more than you can handle.