My Prenatal Test Came Positive for down Syndrome with a 1/195 Chance

Updated on December 16, 2013
S.R. asks from Malden, MA
29 answers

Im in my first trimester and had a screening done for Down Syndrome.I got a call from the doctors office with positive results and 1/195
chance.I have scheduled an ultrasound.Im not sure what to do further.At this point I'm really concerned and worried.Does anyone have suggestions or advise or similar stories.

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answers from Tampa on

Mine was 1/170 for Down's Syndrome and my son is absolutely fine. I wish I would have skipped the damn test and saved myself the worry as they're notoriously wrong. Or perhaps a better description is poorly explained, 1/195 works out to a 5.128% chance. THAT sounds way better and wouldn't have been as likely to keep me up at night.
Also, my boss's tests came back 1/4 that her daughter would have Trisomy 18. Nope. Her daughter is fine.



answers from Sioux Falls on

I've known two people who were told they were having a Down's baby and were advised to abort. Neither did and both were blessed with normal, healthy babies. The error rate is way too high to give it much weight. I wish they would just do away with that test!



answers from Philadelphia on

I had a 1/40 chance in my screen, had the amnio, and the test came back fine. There is a very high false-positive rate with the screening. I wish I had skipped the screening and just had the amnio (I was over 40).

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answers from Sioux City on

There is no test that says for sure your baby is downs. I have had a baby with downs. Unfortunately she didn't live to birth. I carried her for 31 weeks. I did have a level 2 ultrasound. It showed no abnormalities. I vowed right there and then that I would never have any of those tests unless they could help the baby live. I have known many downs children and they are such treasures. I have learned, after burying two babies, that special children are given to special parents. Love your little treasure those downs tests are wrong a lot!

4 moms found this helpful


answers from Minneapolis on

I had a similar result. They are often inaccurate so now is not the time to freak out. And yes, I know that is ridiculous advice...Because I was freaking out too and so you have my utter empathy = )

The high level ultrasound will be looking for 10 markers that are related to DS. You can google what those are (I can only recall a few...something about distance between the eyes, something with the heart, the length of a finger...?). If you come back with 0 or even 1-2 markers, you might feel you've gotten enough info to negate the screening results. You will also schedule an appt with a genetic counselor that will help you chart out your family medical history. The results of that might influence your 1/195 one way or another. Finally, you can opt for an amnio to be 100% sure. And the risks of miscarriage are really quite small and can be made even smaller by how you prepare for the amnio.

This question comes up on mamapedia pretty frequently and I like to try and spread a little information when it does. You will hear people disparage the screening because it is "always wrong". Or they dismiss it because "they would not do anything differently if they knew". Alright. First...If the test were "always wrong" they would not do it. They perform with significant statistical accuracy...And perform best when the mother is 100% positive about her date of conception (seriously, a gap of 1 day can impact the results). And they perform even better when supported by a genetic history and US. Second...What people mean by not doing anything differently, I assume, is that they would not abort. That almost beside the point. Would you use the info to pro-actively plan your family health coverage, insurance, daycare? Would the results not give you a few precious months to plan and educate yourself? Cuz that is my definition of "doing something about it".

2 moms found this helpful


answers from Phoenix on

My heart goes out to you. Pregnancy can be scary and uncertain enough, without having more things to worry about. The only way you'll know for sure is if you have an amniocentisis. They are risky tests performed by inserting a needle through the abdomen and removing a small amount of amniotic fluid for testing. The amniotic fluid contains some of the baby's cells and can be DNA tested for an actual diagnosis. They are risky as they can trigger a miscarriage. Your doctor and a genitics specialist can do ultrasounds and blood tests on you and the father, but those can only give you a prediction as to your child's condition. Talk to your doctor and search yourself to decide whether you want/need to know so much that you want to risk an amniocentisis. I wish nothing but the best for you and your child. Good luck!

1 mom found this helpful


answers from Detroit on

Hi S.
I had almost the same risk given to me with my first child. My doctor tried to bully me into having an amnio but I decided that was not right for me. An amnio does carry a risk of miscarriage and I knew if my baby had Downs Syndrome I would continue with the pregnancy anyway, so I did not want to put my baby's life at risk to ease my mind.
I did have extra ultra sounds which were encouraging but I did not know until he was born that he did not have downs syndrome.
I did not find it too hard not knowing for sure, I just prayed for strength and for the safe arrival of my baby.
That baby is now a perfectly "normal" 7 year old.
There are tests which are more conclusive (including the amnio which will tell for sure, and chorionic villi sampling) but you must weigh up the pros and cons for you. Your doctor really should have given you your options at this point after giving you that kind of news. I know it can feel like a real blow at first but if you go online there is lots of information that will help you .
Good luck

1 mom found this helpful


answers from Redding on

I think you need to get more clarification from your doctor.
If the test says there is a 1 in 195 chance.....
Chances are just what they are.
Women have 1 in so many chances to miscarry their first pregnancy. It doesn't mean it happens every single time.
Imagine 195 women in a room and maybe 1 of their babies will have something wrong.
From what I understand, amnio can detect the gene for Down's syndrome.
If you or your doctor are seriously concerned, you should have the test for it.
What is it you are concerned about? I don't mean that as cold as it might sound. But, if you know your baby has Down's, what will you do?
In your first trimester, you do have choices, but you need to get a more definitive diagnosis before making one of those choices.
I, personally, wouldn't terminate the pregnancy over it. I have known and been around many Down's people and children and they are the most loving people/children.
I know this is a scary time for you.
Talk to your doctor more.
There is every chance your baby will be born completely healthy.

I will say a prayer for you, if you don't mind, and hope that things are all right.

Take care of yourself and ask for further testing.
Don't feel defeated just yet.

I saw a thing on the Discovery Channel about a woman who had prenatal care. She was young. There were no signs anything was wrong and her baby was born with Down's. She fell in love with her baby at first sight and she didn't care. She was devastated, but her love for her baby took over.
Please don't worry about things you don't know. Any woman who has had a child risks the "chance" of something being wrong.
Just take care of yourself and keep in close contact with your doctors.

I wish you the very best.

1 mom found this helpful


answers from Columbus on

If this is your quad screen, be aware that your age is part of the equation, so after a certain age, all tests come back with a high chance. I had a screen like this, because I was 37, it would not have mattered what the numbers were, it was coming back high. I was informed that the 2% risk of spontainious miscarraige with the amnio they wanted me to have was "justified" because of my screen. Who says? I opted not to have the amnio and risk loosing my baby because I was not going to abort even if my child had down syndrome. She did not have it, but I was sent to the hosipital with a card that said "refused amnio" that I had to turn in when I went into labor! You will have a choice, but you don't have to have amnio if you don't want to.

Go for the ultrasounds, and don't worry too much. The worry won't help you, and your chances are still low. This screen is very heavy on inacurate "positives."


1 mom found this helpful


answers from Austin on

I hate it when they say it's a positive result - what it is is a percentage chance. It freaked me out when I first got mine, but then I realized its a percentage and a low one at that. Also, sorry Julie B but you are incorrect regarding the amnio, I recently did tons of research for the risk of having an amnio vs accuracy. Accuracy is 99.4% - most say 99% - percent of miscarriage is 1%. Now I know that accuracy is a high percent but again it's not 100% and weighing the risk of miscarriage vs accuracy was too much of a risk for my baby. That being said I've heard tons of stories of success and some of failures - that has to be you and your partners decision.

Rather than worrying about the tests, I instead decided to research down syndrome so that I could prepare myself and I found this wonderful story, which coincidently I just shared in another post:

Now I realize everyone is different, everyone has their own priorities and thought process, but for me I decided not to worry about it (especially after reading the story) and just enjoy the rest of my pregnancy. I'm mean really, we pregnant woman have to worry about so much else - weight gain, what to eat/not to eat, weird pains, spotting, cramping, gas, heartburn, nausea, baby names, gear, finances, career, etc - who needs one more thing to add onto that ever growing list?



answers from Boston on

Of course the decision as to what to do with your pregnancy is up to you and your baby's father. With that said I want to offer you some advice. Right now you, nor your doctors, can tell how healthy your baby will be. Not all Down's Syndrome children suffer from severe retardation or other health problem. Many of them are high functioning and develop at almost the same rate as other children who are not Down's Syndrome.

Knowing now what lies ahead for you and your child before your child is born gives you an advantage. Take the next couple of weeks to learn about Down's Syndrom. Find out what you need to do now to ensure that you have no complications during your pregnancy. Also learn what you have to do through the various growing stages of your child after birth. I know many parents of Down's Syndrome children. Though it was a tough road all around, they were glad that they went for the ride.



answers from Boston on

Sister had this test and ultrasound and told 4th child had Down Syndrome.. he didn't.
The test can be wrong. I hope they told you this.

As for suggestions... if in fact your baby has Down Syndrome... enjoy the pregnancy and love your child.



answers from Honolulu on

An Amniocentesis, is the most conclusive.

I have had this done with both of my pregnancies.
It is fine.

Usually with any genetic testing, you will also be seeing a Genetic Counselor and they explain each test and what the tests/results mean.



answers from Los Angeles on

Hi S.,

I had a false positive result for downs with my daughter. My husband and I opted for the amnio to know exactly what was going on with our baby. The amnio showed she did not have downs.

The waiting was the hardest part. The actual amnio was not too horrible. When I felt I just couldn't stand it anymore it was over.

I, too, have heard of many, many women who have had false positives. Try not to worry too much. :)



answers from Sacramento on

I too had a false positive with the AFP test...1 in 10 they told me. I freaked dr. called me at 7:00 one evening to tell me. You know it is not good when the dr. actually calls and not the nurse. I had a high level ultrasound and an amnio. My baby was fine. I did the amnio because I wanted to know for sure and be prepared. The risk with amnio is much less then it use to be with all the new technology. If that is what it takes to ease your mind, then I would do it. Just make sure you go to a dr. who all they do is amnios and check out their miscarriage rate...the dr. that did mine was less then 1%.
The high level ultra sound can tell you a lot. So once you get the results from that you can go forward. I know many friends who have had false positives with this test.



answers from Boston on

This happened to me with my first child. My first trimester screening came back with a high risk for Down's (I was 23 years old at the time). I had a Level 2 ultrasound and they saw calcium deposits on her heart which sometimes can be a marker for Down's (many times it means nothing and they go away on their own). I opted for the amnio which showed she did not have Down's - at the time I was young, terrified, and felt like I needed to know for certain what I might be facing. I had no problems associated with the amnio and went on to have a normal pregnancy -- my daughter was born with unilateral cleft lip and palate and a very small VSD (ventricular septal defect, a congenital heart defect) which closed on its own. Sometimes the first trimester screening can be an indicator of another defect (like a congenital heart abnormality) unrelated to Down's.

With my second child (8 years later), I skipped the first trimester screening altogether and just had a Level 2 ultrasound which showed no abnormalities whatsoever, so I opted for no further testing.

With this current pregnancy (I'm at 23 weeks), I had the first trimester screening (different doctor this time) which showed no risk of Down's, however they did see those calcium deposits on this baby's heart. Based on my first trimester results, the doctor sees no reason to worry. I'm not having an amnio because it will not change anything for me. I did have a fetal echo to look at her heart in more detail and they do not believe there are any major defects.

I would say that you should have the level 2 ultrasound and see how it goes - it's very likely that everything will be just fine. If they see something abnormal, then you can decide on whether or not to have the amnio done.



answers from Houston on

I know so many woman who have had false positives with this test (was it the AFP test? That one has a lot of false positives too!)

I say don't worry about it until there is something to worry about! If you and your OB feel an amnio is necessary that will definitely clear it up, but I would definitely weigh all the risks and make the right decision for you. Don't stress until you have all the information!

Good luck I'm sure everything will be fine!


answers from Albany on

I'm sorry, not sure I mean you have a one in 195 chance your baby will be Downs, or your test show the baby is definately Downs?



answers from San Francisco on

I am a father and equally curious and frantic like any mom. In fact my wife is more of a passive and cool person. I just like to weigh all corners of a scenario.

So here is mine: When we first went to the OB for our second baby, we were told on the phone that we were 9 weeks, but when the OB did an ultrasound, she measured and said the baby is 7 weeks and its early, later we had to do an NT ultrasound between 11-14 weeks. and we when we went there, she measured the baby and said that the we were 13 weeks and 6 days (which puts us back to the old schedule) :) and that we need to get the blood work done today itself to have accurate results, We went immediately to the lab and got our blood work done. After two weeks, we went to our OB and this time there was a nurse GRR!!! and she gave a very inexperienced feeling, she showed me the test result and said that we are tested positive and the risk is higher, 1:170. I was petrified, depressed and scared but still remained calm. She said in a very frowny way that she considers it low but an amniocentisis will give accurate results and there is a chance that it can lead to 1:350 case of miscarriage, and another blood work taken in second timester will take 2 weeks and amnio will be quicker. She also said, hopefully everything should be fine (in a very dicey, tensed way). I was like, even if the result was positive, there is nothing we can do as we have reached the second trimester, so we stayed bold and waited for the second blood work to happen, We called up our OB today to know our second blood work results and came to know that the result is 1:10,000.

Can you believe it? So I clearly infer that the first result was false (or this one is LOL) may be the first blood work did not happen in the 11-14 week window (perfectly).

So guys, I feel these tests just create panic and unrest during pregnancy. It's good to do it if your insurance covers it and you get to see the baby moving while ultrasound which bring you immense joy. Other than that, this is irrelevant. We spent two weeks in distress and finally we can think of worrying of something else now :D

Happy pregnancy and happy parenting.




answers from Boston on

Lots of people have pointed out that it's likely your baby is fine. I have a friend who was advised that her baby probably had Down's based on a screening test and certain physical characteristics such as limb length. Her baby is totally fine and does not have Down's (and is now a healthy 5-year-old). However, I want to add that even if your baby does have Down Syndrome, your baby is fine. My sister-in-law married in her late 30's and was advised to have an amnio to check out the possibility of Down Syndrome (one respondent said no test is definitive for Down's, but an amniocentesis is -- it tells you the full genetic makeup of your baby, including how many copies of each chromosome there are). The amnio caused a miscarriage. Thank God she got pregnant again (twice), no amnio this time. She now has two beautiful little boys, the first without and the second with Down Syndrome. My Down's nephew is the sweetest boy, and his parents are so happy they have him. The fact that he had Down Syndrome was never suspected until the birth, so it was a shock and took some adjustment, and of course it is difficult to parent any child with special needs. But the bottom line here is that Down's kids are happy, delightful children, and so even if you end up having a child with Down's, everything will be fine. I know it's scary and probably not something we can truly understand until and unless we have to go through it, but I have heard over and over that parents of these kids feel they have been so blessed.



answers from Bangor on

Our initial test came back to us with a 1 in 4 chance of Down's Syndrome. Scary. We stressed until we got the next test back, did we wait too long, what would the repercussions be for our older daughter, etc. I'm happy to say that the next results came back fine and we have a happy, healthy, very bright, 6 1/2 month old son! Discus your feelings and thoughts about having a special needs baby, but don't borrow trouble! You'll know for sure soon enough and will have to make the right decision for your family then. Good luck, our thoughts are with you!



answers from Savannah on

Try not to stress too much. This test has more false positives and I think they only reason they keep putting women though it is because insurance companies keep paying for it!

My friend had it done because her Brother has downs and it marked her baby as being high for possibly having it. Well he doesn't! He is a perfect 4yr old.

I did it with my first child not knowing what it was all about and it marked my daughter as having something possibly wrong (that was 10yrs ago!), she is fine. I refused it with my 2nd child because it didn't matter if anything was wrong with him, he was mine and I wasn't going to worry about the what coulda shoulda woulda with him.

I'm not sure what an ultrasound is going to show this early in your pregnancy either and normally this test isn't done until you are half way though your 2nd trimester.

Good luck!



answers from Joplin on

I refused to have the amnio done because I knew in my heart that no matter what the result of the test came back with I was set on raising my baby. Knowing that there are risks with the amnio just wasn't worth it to me...its a very personal decision. I would not let this news get you down your entire pregnancy. Extra anxiety won't help anything in the long run. Take heart in knowing how many women get these falso positives.



answers from Springfield on

Wow, that would be upsetting! If you're still in your first trimester, you may be able to have a CVS done, which gets you results earlier that an amnio. I had an amnio with my first, and CVS with my second. Neither test was painful, difficult or even scary. Waiting to hear the results was the most nerve-wracking part.
If you google enough you can find a ton of different opinions on the risks, with percentages of miscarriages after either procedure anywhere from 1 to 3. I spoke with a different genetic counselor before each of my procedures, and learned the same interesting fact from each professional: many of the miscarriages can't be linked to the procedure, but since it was done, they end up as part of the statistics. Since many of the women having these tests are of 'advanced maternal years' (*gag*) they are at a higher risk for miscarriage anyway, so many doctors believe the risks are actually less than 1 percent. I can testify to the advanced maternal years = higher risk of miscarriage as I had two between my first and second child, both in the first trimester, before I even had a chance to do genetic testing on either one!
I think it's good to be as prepared as possible to take care of your newborn. I think any accurate information you can glean from our advanced medical abilities is useful in making plans. If you know you will carry the child to term no matter what, then you can wait until much later in your pregnancy when a non-invasive ultrasound can give you a very accurate picture of your child. If you would consider terminating if there was a result indicating one of those nasty situations where the baby won't live more than a few hours after birth, etc, or if you just want to be prepared for the future then go for it.
Best wishes-



answers from Fresno on

I know tons of people, including myself that had the false positive (AFB test). My friend was even 1/100 chance and her daughter is fine. I ended up getting a high risk ultrasound where they can check the baby closer and look for Down Syndrome Markers. I didn't do the Amnio because I felt it was too risky. I think a 1/195 chance is a lower risk than a women over 35 having a downs baby.



answers from Atlanta on

My screen came back with the exact same results. I wanted to have an amnio anyway, so I did and everything was fine. You should have an amnio just to be sure so that you're not wondering the entire pregnancy. The pre-screening they did doesn't mean POSITIVE for downs -it just means there's a higher likelihood. It means that out of 195 pregnancies, you have a chance of having a downs baby. It does not mean your baby has downs syndrome! They can tell more with an ultrasound and neck measurements and then if they think there's still an increased chance -have the amnio. It hurts, but it's better than wondering!

****And I want to correct Dana K's response above mine -I'm very sorry for her loss, but an amniocentesis DOES -without a doubt -give you a 100% accurate diagnosis of whether or not your baby had down's syndrome as well as a number of other defects. It is a completely accurate test,and it also carries an incredibly LOW incidence of miscarriage. Some people are operating from old data, but it's 1% now days. It also tells you without a doubt the gender of your child.

****And as for Jaye P. -the ONLY time they aren't 100% accurate is when they aren't able to collect enough fluid or the cells won't grow in a culture. Don't try to mislead people into not having important medical tests done because you want to push some agenda:



answers from Dallas on

DON'T WORRY!! This is VERY common, I wish I had known how common before going in and doing an amnio which is not the worse thing to go through but not the funnest either. When my results came back abnormal AGAIN with my current pregnancy, I opted to have the level 2 sono but not another amnio. Also, my level 2 sonographer said that on occasion, you can see in a sono if baby's facial features are showing abnormalities or signs of down so I said I'll stick with that this time around since my prev pregnancy resulted in a totally normal healthy 8 lb 15 oz baby boy.
Again don't worry, this is a great site to get posotive feedback from because I've seen throughout the years many related posts and found that this is VERY common and the second set of results always come back normal. Don't stress, I don't even know why they do that first test, it just seems to cause so much worry for Mom that's completely unnecessary! Good luck to you and don't stress....or worry!



answers from Chicago on

I was told I was going to have a Down syndrome child. Maybe you will maybe you will not. My child is now 19 and definitely not a Down Syndrome child. A doctor told me to abort the child. I boned up, did my homework and prepared for a Down syndrom child. There were a million doctors at the birth. He was not and is very healthy and all grown up. Maybe things are different. But I would say that you hang in there and find out for sure. As a postscript. I work now in Special ed with lots of Down syndrome children and they are absolutely wonderful precious human beings. I am going to maintain this to this day: there are no accidents.

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