Test Came Back Positive for Downs During Pregnancy

Bleh, I hate that test and actually refused it with my last. So many woman, myself included get false positives, and it creates such needless worry.

I did the high def ultrasound, met with the geneticist, and was advised to have an amnio. I stopped there, it didn't really matter, and today I have a perfectly healthy 6 year old boy.

I was 40 and they said this to me also. My child was and is just fine. They also wanted to do extra testing on me and I said nope.

I've never had the test done. As like you - it wouldn't have mattered to me. I do realize that there is planning involved in a special needs child....

I do believe there have been women with false positives. i do know one women who did the amniocentesis so she could be better prepared in case of Downs...the test was wrong and she has a healthy 4 year old boy.

Good luck.

To clarify, there is no "positive" or "negative." The test gives you a range. You fall into a number somewhere. You are either high risk, low risk, or normal. (The high risk doc, will likely explain and clarify this to you.) Did they give you a number, like "1 in ________?" I had a very small number, meaning I was like 1 in 27 something risk. (I don't remember the actual number, but it was very low. My age did not contribute to the number, as I was in my twenties.) So, no...you did not get a "psoitive." You had a number, that was an elevated risk. That's all the blood draw can tell you. The high res ultrasound will look at certain things, that contain downs markers. I know they spent a lot of time looking at the bones, heart, brain, spine, and neck of my son. There are more places they measure, but those had the most measuring and viewing time.

The only positive and negative you will get, is if you do an amnio test. Otherwise, they can only give you a risk factor. I declined the amnio and just waited. My son was and still is very healthy and normal.

I've heard SO many stories about false positives with these tests, yet based on these results over 90% of mothers will terminate these children. =( I am SO encouraged by your stance on this. Is it scary? Absolutely!! But God is the only one with the big picture here. Try not to worry.

My aunt has DS, as do many other children I know. Each of these people is a light to others in a way that "normal children" aren't. They are blessings to and in their families, and I notice a GREAT deal less selfishness and much more empathy in their siblings. These are great gifts in and of themselves.

I will be praying for you. THANK YOU for choosing life.

Hugs mama.

I know of at least four people who had positive tests on the blood draw and their children did not have Down's. I believe that most had a level II ultrasound instead of an amnio to double check that the test findings were incorrect.

When I chose not to do the quad screening, my doctor said that it did have many false positives. He also mentioned that many people took solace in being prepared.

My cousin tested positive and it was confirmed her baby had Down's during the ultrasound. I think she had further testing done because they were in a state of shock. She of course mourned "what could have been", but she was glad to know ahead of time. She said she was more prepared and so was the medical staff. Her daughter is three and she has absolutely no regrets! That baby is the light of their lives.

Good luck.

Hi - just to reframe this a bit - the test doesn't actually test for genetic conditions, it tests for the statistical liklihood of your baby's risk for these conditions. So your testing shows and elevated risk for your age - can you share what that risk number is? Normally it's presented as "1 in 2,500" or "1 in 200" or even lower. When they combine this screening with the ultrasound, they'll be able to look at your blood test and soft markers on the u/s to determine your risk with greater precision.

I had some elevated risks with three of my four pregnancies. In my first pregnancy, the blood test was fine (this was 15 years ago so it was a triple-screen back then) but he had some abnormalities on his u/s that indicated an increased risk of Trisomy-18, a condition that is very often "incompatible with life." I opted for amnio and he was fine.

In my second pregnancy, the blood test (a quad screen at that point) came back with a 1 in 200 risk for Down Symdrome. I wouldn't have terminated but am someone who needs to know everything and be prepared for things, so I again had amnio and he was fine.

With my twin pregnancy when I was a surrogate, the quad screen showed a 1 in 5,000 chance of any problems, which is better than normal so no worries. However, the u/s showed a calcium spot on the baby boy's heart, which correlates to a risk that's double what the blood work showed, so 1 in 2,500. Still better than the average risk so we didn't take any action. He was fine as well.

The u/s will be a much better tool in assessing whether or not your baby has any health issues. Getting blood screenings that indicate an elevated risk is very common and in most cases, the risk turns out to be nothing and the baby is perfectly healthy. At the u/s they'll look for the thickness of the NT fold, the presence of a nasal bridge bone, the length of the femur, any abnormalities of the heart and spine, etc. and if all of those check out, there is a very good chance that your baby is fine but amnio is always an option to know for sure. Your doctor will be able to talk about the miscarriage risks of amnio compared to your baby's risk of DS after the u/s is done.

It's a nerve wracking time for sure - I hope you get some good news after the u/s.

Hi K.J.
I agree with many that you should ask your physician for additional detail about the test that you had. If you had first trimester nuchal translucency screening and blood work (maternal marker screening) and/or second trimester maternal serum marker screening, a screen "positive" result simply means that your risk is greater than that lab's acceptable cut-off (often comparable to that of a 35 year old woman). It doesn't mean that the fetus has Down syndrome, it means that you are at increased risk. A new screening test (called MaterniT21 or Harmony etc.) called "noninvasive prentatal testing is available in many states....it looks for the presence of extra material from chromosomes 13, 18, and 21 that comes from placental cells floating in the woman's bloodstream. It is not a diagnostic test (there have been false positives and false negatives), but it is more predictive than the other screening tests. If you don't want to have an amnio., you should consider asking your physician for this test and an ultrasound. Best,
J.

I think that the most important bit is that you don't care and you will support your child, come what may. I think the test you had already shows the likelyhood is very high, but it's not certain, so next week you get to find out more information about your baby. Then if it's positive, I'd get informed so I knew what to expect (in general) for my child's first weeks and months.

The test you had is a nuchal translucency test which is an ultrasound and a blood test. It does not say for sure that your baby has down syndrome, therefore the results were not "positive". The test merely gives you a likelihood of having Down's. So your number was probably 1 in 20 or 1 in 10 or something like that. That is why you are going to another doctor so they can verify. There are lots of people who get a high likelihood for Downs from this test. My SIL did and she had to get an amnio to be sure. Her daughter is fine.

I think especially if you have already made up your mind to keep the baby it would be good to get an ultrasound (probably a few as your pregnancy goes on) and forgo any invasive tests (like amnio).
The ultrasounds will help you and your doctor determine whether you need any additional monitoring during pregnancy and whether your baby has any serious conditions that may come with Down syndrome such as heart defects. It will not help you determine whether you baby has Trisomy or not, but it can detect any problems with the baby's organs that may require special care right after birth.

And just a word about the "test: you got. Unless you had a MaterniT21 or similar diagnostic test, you are probably talking about a "screening" result. A screening result cannot be "positive" for Down Syndrome or any other condition. A screening result can only indicate an elevated risk for a chromosomal abnormality. I personally cannot understand why physicians still offer a second trimester screen... I think it is outdated and pretty pointless. A first trimester screen combined with a nuchal fold measurement is much better if you want to forgo the cost of an actual diagnostic test and just get a risk assessment.
Please make sure that your OB explains these results in detail to you and IMO at your point in the pregnancy, if the Ultrasound comes back without additional markers, you can probably put your mind at ease.

Good luck!

I would think 15 weeks is too late for the nuchal translucency test (by then the fold has closed up), but either way, don't worry just yet. The test you had isn't really a true test, it's more of a screen that gives you odds based on a number of factors. There are many false positives with the screen, and the odds are in your favor.

It's up to you to get the additional ultrasound done, which might help you feel more prepared if your baby does have DS, but no matter what, I think that baby is going to be blessed to have you and your husband as parents. :)

The blood test doesn't give you a "positive" or "Negative" , It just gives you odds.

My test came back with a 1 in 25 chance for Down's. It is based on the data that women that were my same age that had those same hormone levels had a baby with Down's 1 out of 25 times.

My child did NOT have Down's, but that didn't mean I had a False Positive test. My child just was not the one out of 25.

You can get an amnio to test for sure. I chose not to. I know the risk is small, but i did NOT want to risk harming my baby. Like you, I was going to keep my baby, so there was no reason to risk anything. I used the time to educate myself on some of the challenges that might have come up (physical things like the heart and such were more of a concern to me than mental challenges).

I am glad that you are not going to make a decision to end your pregnancy based on this. While I would never wish any extra challenges on a child, part of me hoped that God would send a child with Down's to me rather than someone that would terminate their pregnancy or feel like the child was a burden or defective. That may sound silly, but I hope you understand what I mean. :)

It might be some comfort for you to understand the numbers and test. Your doctors office should be able to tell you if you call. For example, at your age, the average risk for a Down's baby is 1:1000. If your bloodwork came back and put you at a risk of 1:50 (instead of 1:1000), that would be considered a positive result for Downs, and would tell your dr to refer you for testing.

BUT (and this is how my doctor explained it): For a group of pregnant women with a 1:50 risk factor, it means that 49 of those babies are perfectly normal, and 1 will have downs.

They can give a more accurate assessment with the ultrasound and there is no risk for the baby with ultrasound, but it's still a guess. You won't know anything for sure after the ultrasound. The only way to know for sure is to have amniocentesis, and that has a risk of miscarriage. Since you know you want this baby no matter what, you should not risk the amnio.

Congratulations on your pregnancy!

This hasn't happened to me personally but it did happen to 2 of my cousins. Both their children did not end up having Downs. On the flip side another gal I know did not test positive for anything and her first child had Downs. It was a complete shock for them. So, I would do whatever testing your doctor suggests. I personally would want to be prepared with some information and resources.

There are so many false results. I was 42 and our odds were 1:200. After that, they noticed short limbs, a calcium deposit, various "soft" markers for DS, and I stressed for the final five months. My child was totally healthy. Pay more attention to the ultrasounds. They check for short nose bones and short thumbs, primarily. We would have had our baby regardless too, especially after hearing that one family aborted and after further testing, it was determined that their baby had been *perfectly* healthy. :( I pray that you have a beautiful fourth baby, and congratulations! Please keep us posted.

My good friend had a "false" positive.
They were told that their son may have Down's as well after her test was done. They went in for further testing, I want to say an amnio (?), and everything came back normal. He is now 2.
Good Luck!
L.

We got a positive for a different genetic defect and our son came out perfect! Get the ultrasound and dont worry. Good luck!

My bro and sister in law were preggo in their mid early 30's with their first child. Test came back high level for DS. Baby boy was delivered and no sign of DS. He is now 10 years old and not DS.

They,as well as our family, said no matter what that this baby was going to be treated like all of the cousins. He would be a loved and cherished gift to our family.

I love your attitude about the situation. I personally would want the testing to find out for sure. Then if it were positive that baby had DS...I would quickly start getting involved in a support group. Find out all I could from families with kids with DS how they maneuvered socially and through school etc. We would become the baby's biggest fan and advocate before he/she was ever born.

One of my dear friends has a son, age 17, with Down's. He is number 4 of their six kids. He is amazing!! He is talented in many areas,an Eagle Boy Scout, and integrated into mainstream classes. He is soooooo smart. His parents treat him like their other children, don't make excuses for him and find ways to stretch his capabilities. We absolutely love this boy...he is the sweetest,sensitive and funny kid. We are his biggest fans!!

I wish you the best...thank you for being willing to give this baby a loving home regardless his/her physical and mental limitations.

My friend had the same experience. Long story short, she and hubby decided to trust God and not the doctor(s) who tried to force her into having an amnio - which carries its own risk. She waited it out and everything turned out fine - happy, healthy baby who is 15 now. I never even had that blood test when I was pregnant because of her false positive. It's not an exact science. Try not to worry.

Why didn't your doctor recommend maternity 21? It's an actual genetic test. Insurance companies don't pay for it. But they advertise that you only have to pay something like 240. Is 99% accurate, and its an actual genetic test.

My cousin had false positives with all 3 pregnancies! On a side note, if you or your husband has Japanese in your background, it is more common to be a false positive.

I have 3 healthy kids, my first came back with a false positive and my second child. Last child they recommended an amniocentesis. Those hurt but all in all we have 3 healthy children. We said either way God knows our heart & we will not terminate. Best wishes!

they get soooooo many false positives with that test. Just being over 30 gives you an almost instant positive result. I had an amnio that confirmed my baby was fine.

That test isn't always accurate. The only was to know for sure is to do an amnio. Good luck!