First Trimester Screening for down Syndrome Came Back Positive

Updated on September 11, 2010
K.E. asks from Gold Canyon, AZ
20 answers

Hello, I am 15 weeks pregnant with my second child and recently had the first trimester screening for down syndrome, etc. I did this with my first and everything was fine. I decided to do it again this time around because I was excited to get the DVD of the ultra sound to show my Parents and Grandparents who live out of state. However I got a call from the counselor telling me I have a 1/49 chance of having a baby with down syndrome. Now I know that this is a screening and not a diagnosis but I was still floored. They told me my blood work was slightly off and the nuchal fold was slightly elevated (they like to see 3mm or under, my average was right around 3.1mm). I went in at 13 weeks 1 day however the baby was measuring 13 weeks 6 days. Im 32 years old so I know age also plays a factor. I have a level II ultra sound scheduled for next Wednesday and am hoping that will give me a better idea of the health of the baby. I really dont want to do the amnio. Anyone else have this happen and did the level II ultra sound help or make things worse? Would love to hear all experiences. Thanks.

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So What Happened?

Hi everyone, thank yall so much for all of your replies and well wishes. I had my level II ultra sound this morning and everything looked great! They didnt find any markers for down syndrome so I decided not to do any additional testing. They really wanted me to do the quad screening but I was happy with what I saw and they said the nuchal fold was measuring normal. Plus I will have another ultra sound in 3 weeks and can decide then if I want to continue with any additional testing however, I think I am tested out! So I feel so much better now than before!!! Plus we got to find out we are having another little boy! Guess this one will be my trouble maker! Thanks again!

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K.

answers from Phoenix on

My sister had the same thing happen and her baby is Fine- No Downs! Remember, a 1 in 49 chance also leaves you with a 48 in 49 chance it isn't!

Good luck!

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M.C.

answers from Washington DC on

My mom personally knows 3 ladies that had positive results, went through hell trying to decide what to do, and all ended up having babies with no signs of down syndrome.

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M.R.

answers from Columbus on

You should know that one of the numbers that they plug into your chances is your age, so that automatically rises your number. I had my second baby at 35, I was told that I needed the amnio, refused, because there was nothing I would do about it anyway, and why take a 2% chance, even if they were saying that the risk was justified based on the numbers for the test. It did not seem so to me. My second baby did not have down syndrome. I had my third baby at 37, and had the same experienc and the same outcome, but for her birth, I had to check into the hospital with a card that said that I refused amnio. This is the only time in my life that I refused a medical procedure, but the only reason they wanted me to have it was so that I could have an opiton to abort and to have time to accept any abnormality before the baby was born if they found any. I decided that since there would be no health benefit to my child or myself, that it was not for me. I would have done it in a second if there were a medical intervention or need that could have helped my baby, but as they explained it to me, there was not any. Your situation may be different, but you do have choices.

I understand that it is really hard not to freak out when they tell you this, but the vast majority (48 out of 49) cases like yours will turn out just fine.

I have known several kids with down syndrome as an educational advocate, and they are delightful individuals who are the light of thier families lives. While not one of them would choose that their child had a disablity, they really can not imagine their lives without them in it.

Good luck, I hope it all turns out OK.

M.

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A.G.

answers from Boston on

I had the same thing happen to me with one of my tests. They said to wait a few weeks and take it again and that is what I did and everything turned out just fine. Try not to stress too much over it.

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S.W.

answers from Minneapolis on

I did not have the screening test because it is not diagnostic. I did have the level II ultrasound and the amnio. The amnio is the only thing that will give you a definite diagnosis. The level II helps as it allows measurements and a view of the baby's general characteristics, but if you want to know for sure, I would recommend having the amnio. It really was no big deal as far as medical procedures go - easy, quick, and not painful. I was 40 at the time and everything came out perfect.

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K.P.

answers from Kansas City on

That exact thing happened to me and I was beside myself. I did go ahead and have the amnio and everything turned out just fine. My now seven year-old is not downs--not that it would have made a difference. In my case, not knowing was the hardest thing, and when the results of the amnio came back, it was a HUGE relief!

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T.C.

answers from Colorado Springs on

Dear K.,
I do not get these tests done because they have an extremely high false positive rate. They only serve to bring more stress. And, your age is not a factor in this. You are still very young. These tests frustrate me so much because they rake in the money for them, but they aren't really helpful for anything...except to make them more money for your more intensive follow-up tests.

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D.W.

answers from Indianapolis on

The tests are very inaccurate and have many cases of false positives and false negatives. Despite a degree in Biology and a strong understanding of genetics, I opted not to get the Quad screen with either child - I wasn't going to terminate the pregnancies, and I didn't need the anxiety of a possible incorrect test result.

I'd like to tell you to relax, but I've been in a similar situation and got myself all worked-up (rightfully so) after my daughter's birth. It's not easy to get it out of your mind.

Try to stay off the internet, if possible - it will drive you crazy.
The ultrasound will be a good indicator of Down Syndrome as they can measure eye socket distance, etc.

Hang in there. I can't imagine what you're feeling. But, it's a probability, and the results are highly susceptible to error.

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J.C.

answers from Anchorage on

I got the same thing. I had the amnio and it turned out my son was fine, but the amnio does come with a small risk of miscarriage, so only do what you feel comfortable with.

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G.A.

answers from Phoenix on

I would not worry about whether or not your child may or may not have Downs.
They are wonderful children that show you a more purer love than any person can. My friend has 3 beautiful girls all with Down's. (two of which she adopted internationally) They are a gift of love from God and I would have loved to have had a Down's child if God had given me one.

I do not understand why people are so negative towards them. I would love for you to see my friends beautiful kids and see the love in their eyes.

May God bless you with this child and may you accept his wonderful gift whether it be through a normal child or a Downs child. (both can be healthy and both can be sick)

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A.G.

answers from Minneapolis on

I had this similar question a few months back. You can read the responses if you want. I am 22 and had a 1 in 18 chance for Downs. I had a level 2 ultrasound done and there were no markers for Downs and suggested that I have another quad screen because my due date was off. The second time my results were 1 in 100, which is still high for my age. I had the amnio done because I needed a for sure answer to know what life changes I would need to make if our baby had Downs since abortion was NOT an option. The amnio came back fine and we found out the sex at 15 weeks as a plus. The screening test has a 65% false positive rate. I will never get one ever again. It causes too much worry for nothing. The level 2 made me feel alot better when I was told that there were no Downs markers. It was also very relieving when I found out for sure she had the normal amount of chromosomes. The perinatologist should have a good idea whether your babt could have down's from the level 2 US. Best of luck.

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M.H.

answers from Detroit on

The same thing happened to me with the nuchal fold. I then went for the level 2 ultrasound and was reassured somewhat that other indicators where showing "normal", but they could not say for sure yes or no.
I chose not to go with the amnio because the risk involved with having that, and I decided that the pregnancy would prgress no matter what the outcome would have been.
The outcome was a healthy baby boy :)
These tests often cause unnecessary concern to parents. Try not to worry too much and just enjoy your pregnancy.

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W.H.

answers from Phoenix on

1 out of 49 percent chance? Bah, don't worry. They're just covering their behind to protect against any blame if baby comes out with some issues. Really, I am quite positive you and baby will come out fine. Don't worry.

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M.E.

answers from Phoenix on

I had the same kind of results only was 38 years old at the time with a much higher chance of a positive. I repeated the ultrasound, but chose not to do the amnio when the doctor said things looked good. I was worried throughout the rest of my pregnancy, however my son came out perfect and is now a crazy, normal 18 month old. A co-worker that was pregnant at the same time had the same kind of results and her daughter was fine too. Her doctor didn't make a big deal about it and seemed to act like this is pretty common. I wish mine had been like that, too. Good luck with your decision!!

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M.H.

answers from Albuquerque on

I am soooooooooo sorry that you have to go through this!!! We had to do this exact same thing with our son! Our nuchal fold was like 5.3 or something...we had a 30 percent chance that "something" was wrong with our baby. Talk about heartbreaking...and nerve racking! We decided to do a CVS (early stage amnio) to find out if he would have a chromosome issue. This comes with a high miscarriage rate...I am a HUGE planner and I could not take the not knowing. We risked it. Turned out that we were having a boy and that he had no chromosome issues. Of course since he had such a high nuchal fold reading they felt that there was still "something" wrong with him....maybe a hole in his heart!!! It was a never ending roller coaster ride. We must have had 15 ultrasounds! In my 34th week, the doc said that if this was the 1st time they had seen him that he would have said he was perfectly healthy! Ugh! So we had our baby boy on Jan 7th, 2008...a perfectly healthy 8lb baby. We kept asking if he was fine...are you sure there's nothing wrong with him????
Our take on this is that the 1st trimester screening is a sham! It was made for mothers OVER 35. I was 31 when this happened. We heard from a nurse that there are a lot of false readings for mothers under 35. Lovely. Thanks for telling me now! Anyway, while there is always a possibility there could be a problem....you should always hold out hope that your baby will be perfectly, well, perfect!!! Your baby could just be big...like ours was...they thought he was TWINS when I was just 6 weeks pregnant!!
Good luck with it all...it will be a tough pregnancy with the stress of it all. I will be thinking of you.

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M.B.

answers from Phoenix on

We came out positive for spina bifida not downs but my doctor didn't tell me that there are so many false positives with this test. The level two ultrasound showed a healthy child and we did not choose to do the amnio (they will ask before you have the ultrasound - I told them I would decide after). My son was fine. Have the level two ultrasound and then decide if you want to have the amnio done. It is good to know in advance because there will be life changes either way. Good Luck and try not to worry too much.

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L.L.

answers from Albuquerque on

Have the amnio. If you live in a city with good doctors, you can find one that will do it, who probably does it 5 times a day and is very skilled so the chances of harming your baby are very, very, very low. It is totally absolutely worth it. I had my first at 41 and had the blood test and it showed chances only slightly lower than yours. When the results came back negative from the amnio I was another woman entirely. I get angry when people think that those of us who get amnios are willing (or even eager) to abort an imperfect child -- if you are at higher risk you can be prepared to know what risks your child has, and in that way you can help that child as early as you can.

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3.B.

answers from Cleveland on

Try not to stress, I have heard from MANY people they get these results as well, and their babies are just fine. It's sad that they are so inaccurate and put unneeded stress on an expectant mommy. I decided to not get these tests for that reason. I knew if I got a positive result I would go crazy with worry. Hang in there, and I;m sure everything is just fine. Best of luck to you and your new baby :)

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B.S.

answers from Phoenix on

Another answer the same as all the rest: I had my first and only child at age 37, with the marker showing a possible Downs Syndrome baby. I, too, would not have any other tests because I would not have terminated an "angel baby" anyway, no matter what. As it happened, I went into pre-term labor at 30 weeks and my daughter was born at 31 weeks. I wish you could see how brilliant and beautiful she is now at age 14. A tall (5'10") blond. Don't worry, be happy, and trust in God that he will not give you more than you can bear.

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A.T.

answers from Phoenix on

I have heard of a lot of false positives, so many of them that I have not heard of one that was real. I was such a nervous wreck after having the AFP test with my first child, I decided not to ever have it done again. I felt that it didn't matter....I was keeping my baby, no matter what. I know that having twins can throw the test off as well, which I had chosen not to have the test done with my second pregnancy, the ultrasound only showed one baby.....I found out at 36 weeks I was having twins (weird, I know). So, if I would've done the test I would've found out about the twins then. Keep us posted.

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