First Trimester Screening Results

Updated on January 24, 2012
E.R. asks from Silver Spring, MD
18 answers

I recently received the resuls of the first trimester screen which included the nuchal transluscency and bloodwork. The results were a bit mixed. On the ultrasound and one of the bloodtests everything was normal. The other blood test was elevated, in fact I was in the 95%. The combination of all the tests together greatly reduced my risk of Trisomy 13/18 and only somewhat reduced my risk of Down's syndrome (went from 1/136 to 1/203, which I think is about a 0.5% chance). Because the risk of Down's was still under 1/300 there is still a greater risk than what was hoped and the genetic counselor laid out all of the available follow up options. These include cvc, amniocentesis, further screening through bloodwork (sequential screen) and additional ultrasounds to look for other markers of Down's. I am finishing my 12th week, so if I do CVS I would need to do it in the next few days. I don't know how concerned I should be or what to decide about further testing, including cvs - especially since there is some added risk of miscarriage with cvs and amnio. Has anyone been through this before? Any thoughts about next steps or how to cope with my anxiety? I just turned 38 so that will be my age when I deliver.

What can I do next?

  • Add yourAnswer own comment
  • Ask your own question Add Question
  • Join the Mamapedia community Mamapedia
  • as inappropriate
  • this with your friends

Featured Answers

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

M.D.

answers from Minneapolis on

I normally don't respond to these ones but some of you are doing one of my biggest pet peeves, it isn't Down's or Downes or Down's syndrome, it is Down syndrome. Yes kids with Down syndrome *can* have more medical problems and such but you know what it isn't a death sentence. My oldest has Down syndrome and I also have a set up twins and they each have their own strengths and weaknesses. Would I have done it different, no way no how.

More Answers

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

T.H.

answers from Norfolk on

personally i wouldnt have even asked fo the blood test(yes you can opt out). this way you never are told to worry about something that you don't plan to change anyway. if you just want to be prepared that's one thing but to just be curious i think the risks are too great to justify doing anymore tests. pray and be thankful God has blessed you with this baby. that's what i would do.

2 moms found this helpful
Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

D.K.

answers from Pittsburgh on

I was 40 when I had my son. I skipped right to the amnio as I was certain that if there was any identifiable anomaly I would terminate the pregnancy. The small risk of miscarriage was much more acceptable to me than any preventable/avoidable defect. I would think the genetic counselors should be fairly conversant with these risk/benefit discussions. If not, your obstetrician should be able to advise you as well.

1 mom found this helpful
Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

I.G.

answers from Seattle on

It really depends on your outlook. if you are going to carry the pregnancy to term no matter what I would skip the amnio and just go with a level 3 ultrasound later on.
If terminating the pregnancy is an option you would consider get the amnio.
I an over 35 and will skip the first trimester screening for my next pregnancy and go straight to a CVS/amnio as early as possible if we decide to have another....when you're older the screening often produces wonky results.

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

C.L.

answers from Minneapolis on

I had my 2nd at age 36. Although I did not have questionable screening results I was strongly urged by my doctor to have amnio simply because of my age. I knew terminating the pregnancy was unlikely for me so I didn't want to risk amnio. I had a level 2 ultrasound instead, which can only tell so much, but in my case it was reassuring. Complications from amnio are very rare, but someone in my office at the time did have complications, almost lost the baby and ended up on bedrest for the remainder of her pregnancy. This happened shortly before I would have undergone my amnio. Both of us ulitmately had healthy baby boys. Good luck with whatever you choose. I haven't really given you any advice, but I just wanted to inform you of my experience. Oh, just to balance this (and possibly confuse you although that is not my intent) a woman in my neighborhood gave birth to a healthy baby boy about three months before I had my first. She had amnio simply based on her age and discovered that although her baby was healthy she and her husband carried some rare genes for a serious genetic disorder and any future children had a 25% chance of having this disorder. They elected to stop at one healthy child.

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

K.H.

answers from Norfolk on

I went through this with my current pregnancy. It is very nerve racking. When I got the call about my blood test results all I could do was cry. I had had 3 perfect pregnancy before this one and all three of my children were born healthy so I was completely shocked to get the news with number 4. My husband and I went and talked with a genetic counselor and since we would never terminate we opted for the ultrasound to look for further markers. This helped put our minds at ease when they did not see anything. I was too scared to do any of the other tests that carried a risk of a miscarriage. As for the anxiety I relied on my family and friends and a lot of prayer. I will only be completely relieved when my little is finally here but for now I try my best to stay positive and think no matter what this child will be a blessing to this family. Good Luck and I will pray that everything turns out good for you.

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

J.G.

answers from Minneapolis on

Well, here's my thought on it...and it may be over simplified...but we did the initial screening knowing full well that even if our baby had down's syndrome it wouldn't matter one bit. I did end up having a couple of soft markers for down's throughout my first pregnancy but he ultimately did not have downs (I was in my mid twenties).

That said, regardless of the results of the screening we were not interested in further testing that would jeopardize the baby.

You have to know that after 35 your risk of down's increases. You also must know that they will give you the option for a late term abortion if in fact further tests indicate an abnormality with the pregnancy. So, ultimately, it depends. If you're thinking of terminating the pregnancy if the baby tests positive for an abnormality, then obviously your risk tolerance is going to be a bit higher than a woman who will keep the pregnancy no matter what.

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

V.T.

answers from Dallas on

My doctor said that unless termination is an option, he doesn't recommend the extra testing. I said I would want to know to prepare, and he said there is no way to prepare for anything and you can still research downs whether you know or not. If I remember correctly, he said that the risk of miscarriage was 1/200 or 1/250 with the amnio. I didn't have the tests done because termination was not an option for me. With my first everything was fine and with the level 2 sonogram they were able to reassure me, although not guarantee me that everything look good and normal. Currently with my twins, I didn't have the tests, and on the Level 2 sonogram, they said everything looked good except for the left side of one of my baby's brains. Although he is still in the normal range, it is on the high end and there is a risk of a developmental delay. I figured if they could see that on a sonogram, that is enough for me.

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

M.M.

answers from Washington DC on

Hey. I had my 2nd when I was over 35 causing the Doctors to act totally different than my first. DO NOT let the doctors make you anxious. Do what you feel is needed whether it be all the tests or none. Having said that, for my second I decided to have an amnio to learn about any genetic items then vs. later. I got caught up in the anxiety. I did not have am amnio or almost any test with my 1st. Before the amnio my Dr. told me that through the ultrasound he could tell there was a 95% chance my kid would not have Downs. He said it had to do with the arch of the nose. Amnio came and I found definitively I was having a girl and nothing genetic seemed different.
I could have chosen blood work, but then I would have needed to go through multiple rounds of blood work to know what I learned with an amnio. Amnio is serious, but ensure your Dr. has done it lots of times and you'll know whether you're with the right Dr.

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

C.R.

answers from Washington DC on

Personally I wouldn't do the additional testing. Sounds like your risk is low for Down Syndrome. I was 42 with my second. Risk for Down was 1/200 and the specialists tried to prepare me for anything. She had a calcium deposit which was another soft marker. She had "short" limbs which was also a soft marker. The "specialists" just stressed me out. My instinct told me she was fine, so we opted out of further testing other than extra sonograms. She turned out perfectly. I would never have risked the amnio due to chance of miscarriage, and we wouldn't have terminated anyway. I pray that you can relax (it's nearly impossible, I know - I stressed for the entire six months) and have a safe delivery and healthy baby. Blessings to you and your family as you make some tough decisions. They also look at nose structure and the size of the baby's thumbs as additional markers, so if everything looks fine, please don't worry. Chances are super good that your baby will be perfectly healthy.
=)

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

E.B.

answers from Miami on

If iit were me, I would do follow up sequential screening which they do at 16 weeks. They will repeat blood work and U/S. If that comes out differently where your chance is higher than go for the amnio. If not then your safe. If I read right you said a 0.5% chance the baby might have it. That's not enough for me to put the baby at such a risk to do an amnio or cvs and possibly lose the baby. Good luck and keep us posted.

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

R.M.

answers from Seattle on

A friend of mine just went through what you are going through. She knew that MS and Downes' Syndrome ran in the family and yes she was around your age. She knew that she couldn't handle having a little one with any of these ailments', she just couldn't handle it. She had the amniocentesis done, all went well and she was estatic knowing that her little one had no birth defects which gave her so much more room to breath rather than being on edge all the time. She was so concerned that she would have to have an abortion if something turned up and that as well brought her blood pressure up. If you are concerned I would go with the test, the sooner the better. This way you yourself will feel so much better. Nothing is worse than being stressed out while being pregnant at the same time. You worry, making yourself sick and this is not good for you nor the little one that you are carrying. I wish you luck and I wish you well. You may be surprised at the results. The amniocentesis shows' so much nowadays. I am sure that you are driving yourself up the wall with the not knowing which isn't good for either of you. Trust your Obstetrician this is very important. Again I wish you luck and am sending you a prayer as well. Take care of you and the little one :0)

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

R.W.

answers from Norfolk on

I was 38 with my first. My spouse and I wanted definitive -genetic- information and chose to go with the CVS. It is usually performed between the 12th and 14th week, so yes, you need to be on top of this if this is your option.

Yes, there are risks involved. (Isn't that the kicker with birth, even?) So we chose to go to a medical school where they do literally hundreds of these a year, and not just someplace local that might do a dozen a year. That made us feel better about the risk.

It's a tough decision, and it won't be the last tough one! I wish you peace and joy on your journey to motherhood!
~Rebecca

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

H.H.

answers from Washington DC on

When I had the nuchal my ultrasound came out "at risk," it was low, but there was a slight concern. My bloodwork came out normal though and my son was fine, however what made our decision was this--Did you do the test because it would change your mind about having the baby? If not, then don't take the risk of doing amnio or any test that may cause you to miscarry or cause birth defects. You doctor will likely put you in the "at risk" pregnancy category so they'll keep a close eye on you anyway so if you want to keep everything else safe with the baby I wouldn't do it.

C.C.

answers from Los Angeles on

My daughter is 5 and when I had the nuchul I tested around the 5% range for downs. I remember this was scary when my OB told me but I also specifically remember him telling me that this happens and it can mean nothing. He sent me to a fetal specialist and they monitored me till i gave birth. I ended up not doing the cvs or the amino, (i was curious about the amnio but by the time I wanted to do it, it seemed the risks of bag breaking was too high).
It was scary for me bc the fetal specialist didnt have a clear cut answer, never gave me good news or bad news. I had other complications as well such as preterm labor that they had to put me on meds for a time to stop the contractions and she had a 2 vessel cord. It was a roller coaster ride and I know how you feel. She was born full term and healthy. I feel for you and understand what you are going through. The only advice I can give you is to pray about it and talk to the dr. about it.

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

N.B.

answers from Washington DC on

I remember being in your shoes - not fun! While it's great to have all this technology, it certainly adds stress to pregnancy. I hate the nuchal translucency test and others like it because they only give you statistics/odds, not really real information (at least that's how I feel). Especially when you are over 35 (they adjust the statistical calculations according to age, so being older automatically puts you in higher risk odds). I even posted looking for opinions about amnio (http://www.mamapedia.com/questions/4857232997042225153)

I am not a fan of invasive testing, so I decided to see what my results of the quad screen and further ultrasounds were before deciding to do amnio. The only issue with that is then you are waiting to do amnio later in the pregnancy. My quad results ended up being good and ultrasounds were fine. I discussed the results with an amnio specialist and he even recommended against amnio. My daughter was born healthy (I was 36 at the time).

That being said, you need to do what will give YOU peace of mind and find what you are most comfortable with (not that you'll ever be 100% comfortable!). My gut told me that my baby was fine, so I focused on that and tried to tune out the anxiety. I learned a wise statement to tell yourself when you are starting to imagine all the things that could go wrong - just stop your thought process and say to your self "That is a story that doesn't have to happen." It has worked wonders for me.

Wishing you all the best!

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

C.W.

answers from Washington DC on

I think you could look at this two ways, on the one hand, some, like my SIL would say, "I wouldn't terminate, so why stress myself out the entire pregnancy over something I can't control." For myself, my hormone levels were very high which some say could put me at risk for Down syndrome, so I was a wreck the first trimester. I don't know what I would have done if it had been positive, but I knew I couldn't go on through the entire pregnancy speculating and not knowing. The stress of not knowing would have killed me. Luckily the NT screen showed that I wasn't at risk and that was good enough for me. So if the anxiety of not knowing will make the rest of the pregnancy unenjoyable, go for the CVS and put your mind at ease.

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

R.T.

answers from Stationed Overseas on

I was 43 when I had my first child, a son ( after suffering 7 miscarriages all between week 7 and week 11). I went straight to the amniocentesis test. The results put my mind at ease for the rest of my pregnancy. He is now 4 and healthy. If you are planning to have the baby no matter what health problems may be found, then I wouldn't put myself through any more testing. I don't think you can "prepare" yourself for something until it happens really. Good luck!!

For Updates and Special Promotions
Follow Us

Related Questions