Less than Desirable Results from First Trimester Screening

Updated on December 18, 2008
A.H. asks from Chicago, IL
14 answers

Hi, moms. I am 12 weeks pregnant with #2 and just got our results back from our first trimester genetics screening. The ultrasound was normal, but the bloodwork showed a risk of 1 in 54 for downs syndrome. I'm 34 right now and will be 35 when I deliver. I'm very worried about these results and will probably do either CVS or Amnio. Has anyone else experienced these results and how did you handle it?

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

More Answers

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

J.

answers from Chicago on

I just wanted to add to something someone else posted - CVS, if done by someone experienced who has had good results, is considered to be as safe as amnio. Check with your own OB, of course, for the actual statistics.

You can also look into the non-invasive screening including nuchal fold measurement. I did that with my second pregnancy since I was over 35.

Personally, I think I would want to have whatever information is available as early as possible no matter what. I have a friend who has a child who has Down, and there is a lot of education you will need to have, services to sign up for, etc., if you are thinking of continuing the pregnancy.

1 mom found this helpful
Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

S.M.

answers from Chicago on

Hi A.,
I agree with Karen about what you would do with the information from further testing. I decided to forgo the screenings with all 3 of my pregnancies, knowing we would keep what we get, regardless...I also was aware of a lot of false positives with the screenings and the dangers of amnio. My first ended up having "Down syndrome" (no longer referred to as Down's) and I was 28. I went on to have 2 typical children as well. Good luck, whatever you do and don't panic.

1 mom found this helpful
Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

K.N.

answers from Chicago on

Hi,
Often times these results cause such undo panic for us moms. I had the same thing happen when I was pregnant with my first at age 34, I think it was a 1 and 98 chance for downs for me. I had amnio done and everything showed up perfect. When I was pregnant with #2 I went straight to amnio. (Everyone thing was fine then also) I recomend talking to your dr. and if he/she suggests amnio I would do it, it will ease your mind.
take care.
K.

1 mom found this helpful
Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

E.H.

answers from Chicago on

I am not a doctor, but my husband and I did not get the test because we were told by many sources, including doctors, that they are often wrong and errors are most often on the side of projecting chances of down syndrome.
We felt that the stresses that any chance reading would cause us were not worth it. We made the choice that we would love our child no matter what! (I know not everyone feels that way.) The one thing I have to say is you are NOT an old mother! It makes me very mad that in the last few years there are such scare tactics done to pregnant woman by calling women in there mid 30 high risk for NO reason but age because that has NOT always been the case and is NOT the case in many countries around the world with superior materity care. Doing tests that are more often than not inaccurate and cause unnessary stress on the mother causing her to have MORE tests is money hungry greed. There are things, genetic, out there that make life painful and horrible for children. There are genetic reasons for some test, but scaring the parents using a test that is so often WRONG is really sad. I am sorry you are going through this.
I do wish you and your new one health and happiness whatever the results at birth.

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

J.P.

answers from Chicago on

A., people have already given you the most important advice which is to discuss with your husband what you would do with the information if you have tests done. I am 35 years old and 19 weeks pregnant (4th pregnancy, but 2 miscarriages). A few weeks back, I had an amnio and it was pretty terrible. My doctor used 2 needles, I had a contraction on the table and he ended up unable to break the membrane. My doc did it in his office. Until I had this bad experience I didn't realize how unusual this was. Everyone else I had spoken with went to perinatolgists(sp?) for the test. I did not feel the need for the test but my husband really wanted it. We balanced the risk of miscarriage with the risk of Down Syndrome or Trisomy. I ended up going to a specialist this past week and the procedure was a breeze. It was so super quick. Not very painful at all. We were given so much information and we received results back in one day (FISH). I can give you more details if you want. My advice to you is if you get the amnio - go to a specialist. (I'll give you mine if it helps). Also, support each other, because this is so difficult - for what I've been through - it was a true test of our marriage. Good luck.

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

S.A.

answers from Chicago on

I had my first child at 35 and my second at 37 and my third at 40. All of my children are perfectly healthy. And many times those screenings come back abnormal.

I don't want to be judgemental sounding but I found out during the election that 9 out of every 10 mothers that gets results that suggest she's having a Down baby will abort it. That is pretty disturbing to me.

First, the tests are highly irregular and can't be considered even remotely accurate. To think that many of those aborted babies were perfectly normal. Not that it really matters because my husband has two Down cousins that are incredibly wonderful human beings. His uncle and aunt couldn't be happier as parents of these wonderful people.

I'll end with I'm considering having one more child. Many, including a grandmother that works in a hospital, have nearly yelled at me about how irresponsible I'm being. I don't consider it irresponsible at all and can't believe that anyone with faith in God would think bringing the child given them into the world is irresponsible. My gut tells me my family is not complete and there is one more waiting in heaven to meet me.

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

S.K.

answers from Chicago on

Great advice from Jenn P!!

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

K.

answers from Chicago on

The best thing to ask yourself is what will you do with this information? Will you terminate the pregnancy if your baby has Downs? If so, you will want a difinitive answer ASAP. On the other hand if you won't actually DO anything, I suggest waiting a bitr and either do a lev 2 U/S or amnio. CVS haws a high risk of killing your baby (like 1/150 or something) so is not worth it IMHO. Honestly, you and every couple ought to ask themselves the "what will i do" question before you opt for ANY screening tests, since they can frequently cause unnecessary anxiety (as they all have a high false positive rate). Good luck with your decision and pregnancy.

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

E.D.

answers from Chicago on

Oh, A.! This sounds too familiar! I just had #3 in Oct. I was 35 in Sept., so just barely 35. Those drs. had me so freaked out for most of my pregnancy. I had a clotting issue, so I was rushed down to Rush (which was positively the WORST exprience). They did the quad screen (forced me to) and an ultrasound. #1 the called and said I had tested positive for downs. Well that is a horrible way of putting it. It's not necessarily a + or - thing. It's a "chance". It's a bunch of things that factor into a % of maybes. Every baby has a chance of having it. My results were 1 in 80. I was so angry with that woman for putting that fear in me. She tried to bully me into having the amnio. I was totally against that. The rate of miscarriage was too high for me. She said it was 1 in 2000, but what if I had miscarried and the baby was fine? I couldn't have lived with my choice. Now, understand this was MY opinion. You may feel differently. My husband was behind me 100%. We decided that our chances were good to not have downs. Now we also decided that there are certainly worse things than having a baby with downs. They are happy people with fufilling lives these days. It's not like years ago when they went to live in a "home". We decided if we wanted to know that badly it was selfish on our part. We would love the baby NO MATTER WHAT (again MY opioion). It wasn't a life-threatening condition. You have to decide if miscarriage is okay with you and also what YOU will do if you find out the baby will have it. It's your decision. We did have a second ultrasound (our first one at Rush was so horrible. they told us the baby had cysts on her brain~which were not there on this one. We don't know what that first dr saw, but he had us so afraid she'd have an extra 18th chromosome-which can have horrible defects with no quality of life for the child) at this FABULOUS place in Orland. They were so wonderful there and knew our concerns. they really took the time to explain things to us. There are certain "markers" that may indicate downs. The hands and toes can be very telling. They took the time to show us her hands and toes. They all looked "normal" in an ultrasound. It put our minds at ease enough to continue the pregnancy comfortably. Of course they will say it's not 100% until the baby is here. If you'd like their information I can get it to you. You will be worried, but remember it's not a sure thing. My baby is FINE. All results are perfect. There are worse things than downs. Do you know how many women I've talked to that have had positive results from that test and their babies are FINE? It's a high rate of false positives. Take a deep breath and ask LOTS of questions of your dr. Best of luck to you! I feel very passionte about this. Medical science thinks it's improving, but for those of us women who have been put through what they think is helpful, don't really think so.

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

M.P.

answers from Chicago on

Even though I was young when I was pregnant with my daughter (21) I got results like yours because of my uncle with down's syndrome. My grandma was 41 when she had him, so it was mostly due to that. But nonetheless, my numbers were waaaay higher than they should have been for my age. In any case, I didn't do an amnio/CVS, but I did have a level two ultrasound at 19 weeks and that told me everything I needed to know. My daughter is perfect and the level two ultrasound was really all they needed.

Good luck!

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

M.W.

answers from Champaign on

My friend just had that test a few months ago and her chances of downs was 1 and 44. she had the amnio and the baby if 100% fine. The triple screen test that gave her the results was wrong. a false positive. i know that there are more false positives than true results. if you are going to keep your baby regardless, i don't recommend the amnio. it was extremely painful for her. do the invasive ultrasound to calm some of your fears.

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

D.F.

answers from Chicago on

Hi A.,

I agree with Elizabeth...I m 31 weeks pregnant and I am 37 I am due in about 7 weeks. We had a positive result for downs and after many conversations with my husband and my family we all agreed that if this is what is meant to be than so be it. We will love the baby no matter what. I opted not to have any further testing for fear of miscarriage. I have a 5 year old and two miscarriages before this pregnancy. So, we are plugging along and praying for a healthy baby, but I feel good about my decision so far. I am scheduled for a c-section Feb 9.

I wish you the best! Go with what is in your heart.

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

J.W.

answers from Chicago on

You and your husband will have to make decisions based on your personal ethics and beliefs. Are you and your husband prepared -- or willing to prepare -- to raise a child with Down syndrome? It's easy to say that there's a good chance everything will be "okay", but as the parent of a child with autism, I will tell you that doesn't always happen. I had amnio and was told that I had a one in something like 4000 chance of a genetic defect. I learned the hard way -- tests or not, there are no guarantees in life. I do the best I can with the information I have about my daughter on a daily basis.

Smallavatar-fefd015f3e6a23a79637b7ec8e9ddaa6

M.C.

answers from Springfield on

A., this happened to me with my second child, it is a very scary thing to go through. I was only 24 years old with mine, and I did the amnio. Mine came back fine, but it was extremely painful, so painful I would rather go through childbirth without drugs. Afterwords, I really regret getting it done, it wasn't worth the pain, besides we were going to keep the baby no matter what. I've never heard of the CVS, but if they say it is less painful, I would do it. Just remember no matter what the results, it will still be a beautiful gift from god.

For Updates and Special Promotions
Follow Us

Related Questions

Related Searches