20 answers

First Trimester Screening for down Syndrome Came Back Positive

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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What can I do next?

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!

Featured Answers

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!

1 mom found this helpful

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.

1 mom found this helpful

More Answers

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.

6 moms found this helpful

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.

4 moms found this helpful

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.

4 moms found this helpful

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!

3 moms found this helpful

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.

3 moms found this helpful

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.

2 moms found this helpful

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!

1 mom found this helpful

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.

1 mom found this helpful

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