Scared after getting results of 1st trimester screening..

Hi Girls,
Last week I had my nuchal translucency ultrasound which was normal for both babies. The genetic counselor just called...when they combined my age (38) with my blood test results they have determined that I have an overall probability of 1 in 27 for Down Syndrome with this pregnancy. They also factored in the fact that my first pregnancy ended in the first trimester due to trisomy 16, 21, 22. I am so upset and worried...my stomach is in knots. I have decided against CVS due to high risk of miscarriage with the procedure. Husband doesnt want me to do the amniocentesis but will let me make the final decision. At my clinic the risk of miscarriage with a twin amniocentesis is 1 in 500. I am planning on scheduling an amniocentesis. I really just need to know if something is wrong. Has anyone gotten similar results from their screening and did you do the amnio and everything was fine?? I am really scared. Everything has gone picture perfect with this pregnancy so far and I just feel like I have been totally knocked down. Thank you to all in advance for your input and support.

Kristin

 

:hug: I'm sorry this is happening to you. I did not have an amnio because of the risk it involves, oh, and the fact that I hate needles.. especially the long ones! I was never told what my down syndrome risk was.. but I was 38 when I was pregnant with my last baby. Down syndrome could happen to anyone. We have several moms here who are in their 40's and had perfectly healthy kids. I have a friend who is maybe 30 now and she has a 5 year old dd who has down syndrome.

With your twin pregnancy, you will be getting A LOT of ultrasounds. They will measure your babies each time very thoroughly. I know it is hard to relax, but those are still not so bad odds. :hug: I do know that being prepared would feel better.

 

When my cousin was pregnant with her DS 3 years ago, I don't remember what her number was, it indicated she was at a higher risk for Down's Syndrome (she was 32) and her DS also had 3 soft markers they found. Well they were all wrong, he was born perfect, no Downs Syndrome at all. Try not to worry about it, I know it's much easier said than done. :hug:

 

Hi,

Really sorry to hear that you are going through this. I think that if you are really concerned about what the ultimate outcome would be, then it might be a good idea to pursue the amnio. Only you and your husband know whether it would make a difference to you if one or both of the babies did in fact have downs, so I would proceed according to how you feel. Best of luck that things will work out fine. For what its worth, I read on these boards that there is a high number of false positives with twins.

 

Please try not to worry too much. Did they offer you a more intensive ultrasound prior to the amnio for around 20 weeks? My risk due to my age was high (I am 34 and will be 35 when I deliver) around 1/113. However, at the level 2 ultrasound, they stressed that everything looked great. I opted to NOT do the amnio, because of the risk. I figure with all the ultrasounds and blood tests (I also did the AFP and Nuchal screen) my chances were low. And if one is born with a genetic disability, then I will handle it. Good luck!

 

They did offer to do a level 2 ultrasound at 17 weeks but I just don't think I can sit and worry that long. The amnio could be done at 15 weeks. I really just want to be prepared if one of these babies has special needs and I don't want to be worrying the whole pregnancy whether or not something is wrong. Even if one of the babies has Down Syndrome we would not terminate as we would not want to risk the other baby. The babies are fraternal so chances are if one has Down Syndrome the other would not. My husband sees no need for an amnio as we would not terminate. He is concerned due to the 1 in 500 miscarriage risk that our clinic quoted. I am going to schedule the amnio and then I can always cancel it if I change my mind.

 

:hug: I know there is no way to reassure you that you don't need to be so worried. But I have heard countless stories like your's and in most, if not all, the babies turn out to be perfectly healthy. Try to remember that a 1:27 risk is actually a 96% chance that your baby does not have Down Syndrome! Really, those are great odds!! :hug:

 

i wish there was something i could say to assure you everything will be alright. my DH and i decided against an amnio after having some 'unsure' level 2 results and we are glad we did. you need to do whats best for you and your DH. :hug:
try and hang in there.

 

Hi, Kristin --

I'm so sorry that you're going through this -- we also had a "high risk" result from the nuchal screening blood test (1 in 64 chance of Down Syndrome). We were also really scared, even though like one of the previous posters said, the odds are still heavily in favor of the babies being chromosomally normal. I was very worried about the miscarriage risks from an amnio (even though again, they're statistically very low these days), but we went ahead with it anyhow because for us, we wanted to have the information. And everything turned out fine -- no problems with the babies, and no complications from the procedure (I had it at 16 weeks and am now almost 24 weeks). I've also had several friends who did amnio and everything was fine (although they all had singletons).

They did a detailed ultrasound right before the procedure and didn't find any markers for Downs, which lowered our risk. We could have canceled the amnio at that time (you can always change your mind!) However, we wanted to be sure, and having the certainty from the amnio definitely gave us peace of mind -- for me, I probably would have worried about it the whole time otherwise.

If you go ahead with it, I'd recommend getting the FISH results, which come back in about two days (as opposed to two weeks for the typical full results). They give you the results for Downs and the other most common trisomies. It might cost extra since insurance sometimes doesn't cover it, but if you can swing it, it's so good not to have those extra days of waiting and wondering.

You might want to check out this message board: http://community.babycenter.com/groups/a28...formation_group
There are lots of ladies there going through the same kind of thing, and lots of people with even scarier odds (1 in 5, for instance) who end up getting good news. However, there are also links on that board to support for people who do get a prenatal diagnosis of Down syndrome -- they have different groups for people who have gotten that diagnosis and chosen to continue the pregnancy, and those who have gotten a trisomy diagnosis and decided to terminate (and also those for people who have gotten the news and are figuring out what they want to do).

Anyhow, big hugs to you and I hope that everything turns out fine -- the odds are that it will!

Melanie

 

We did the amino, but we didn't do any of the other screenings since we knew we were going to do an amino since I was 35.

However, my dr (who also performed my amino) had been doing bi-weekly u/s in her office, so I had a feeling she didn't see anything troublesome.

The risk of amino is significantly lower based on the person who performs it. My Dr. had never had an issue (if I remember correctly) and had been performing them for years. I know they scare people - but really the procedure is very safe. Of course there is always that 1 in 500 (or higher) risk, but I think it's actually lower than what is often stated.

With twins, you will actually have three needle sticks. They use u/s guidance to insert the first needle and take the fluid. They they inject dye into the first sac so that when they do the second amino they know they don't go into the same first sac. They also immediately check for h/b after withdrawing the needle. The needle didn't hurt, the hardest part was relaxing so she could do it. Also Becca (twin A) was difficult to get fluid because she was swimming like crazy.

As it relates to FISH - I think they need to take more aminoitic fluid so definitely check w/your dr.

I'm sorry for all the worry - for me, the amino gave us tremendous piece of mind (plus I was thrilled to learn Becca was definintely a girl!)

 

I wanted to post to say that I had a similar initial result... nuchal fold test was fine, then got a call that the b/w was high for Down's... we had to wait 2 days for a meeting w/the genetic counselor... when they showed me the lab paperwork... I noticed that they had written down a WRONG date for the initial bloodwork... when they re-worked the calculations based on the correct dates the results were in the normal range.

the reason I mention this is that labs do make mistakes. Please check all the dates on your file... I can only hope that the results were miscalculated.

I really didn't want an amnio based on any unneccessary tests w/risk of miscarriage.

I'll be thinking of you.

 

QUOTE(akameme @ Apr 21 2009, 12:01 AM) [snapback]1281978[/snapback]
We did the amino, but we didn't do any of the other screenings since we knew we were going to do an amino since I was 35.

However, my dr (who also performed my amino) had been doing bi-weekly u/s in her office, so I had a feeling she didn't see anything troublesome.

The risk of amino is significantly lower based on the person who performs it. My Dr. had never had an issue (if I remember correctly) and had been performing them for years. I know they scare people - but really the procedure is very safe. Of course there is always that 1 in 500 (or higher) risk, but I think it's actually lower than what is often stated.

With twins, you will actually have three needle sticks. They use u/s guidance to insert the first needle and take the fluid. They they inject dye into the first sac so that when they do the second amino they know they don't go into the same first sac. They also immediately check for h/b after withdrawing the needle. The needle didn't hurt, the hardest part was relaxing so she could do it. Also Becca (twin A) was difficult to get fluid because she was swimming like crazy.

As it relates to FISH - I think they need to take more aminoitic fluid so definitely check w/your dr.

I'm sorry for all the worry - for me, the amino gave us tremendous piece of mind (plus I was thrilled to learn Becca was definintely a girl!)

I agree about the risk of the amnio being low. Iam 37yrs old and will be 14 weeks tomorrow. Our NT u/s was normal for both babies, but blood work came back a little high. Our odds are 1:190, could be worse but i need the peace of mind. Our high risk dr is very confident about the risk from the amnio. He had a woman miscarry 14 yrs ago and does hundreds per year. Your are suppose to be on bed rest for 24hrs after and she went shopping after. I go on May 7th and am very nervous about the discomfort of the procedure and results which I know is all normal to feel this way.

 

I was 40 at the time that I was pregnant with our twins. Although they are identical, one twin had a high normal value for NT measurement and my bloodwork came back to give us a 1 in 30 risk of Down's. We elected to proceed with the amnio, as my husband and I needed definitive information. The perinatologist who did the amnio does several every day and treats only multiples, so was very skilled in the procedure for twins. I had no problems with the amnio, and our results came back normal. We now have two healthy 5 month old boys. It is not only possible, but likely that you will end up with normal amnio results.

Good luck.