Screening for down Syndrome

I have a friend who had this test done with her first and it came back positive also. Her son DID NOT have downs syndrome and is perfectlt healthy. This is the reason I chose not to have this test done with all 3 of my pregnancies. I did not want to have to go through thinking something was wrong with my child bc pregnancy is hard enough.

Hi M., my 4th child tested positive for down syndrome. I entertained every worse fear for a week waiting on the level 2 ultra sound. I had the ultra sound done and my baby had 0 down syndrome makers, I was soooo relieved. I also passed on the amniocentesis test and I'm glad I did. He was born perfect. No genetic defects.

As the other ladies said the false/positive rate is so high you wonder why they still perform this test.

Lots, lots, lots of those tests are false positives. While you will still worry, try to remember that. There are other screening/tests they can do, so ask the doctor. If the doctor doesn't help you, find one that will. Good luck.

M.,
My name is M.. I'm a Mom to a 9 month old girl, Jada, she has Down Syndrom. My best advice to you is , continue with the testing. Have an amnio done. They're not as scary as you may think. I was 22 weeks pregnant when I had mine (due to my age, I seen a specialist). You're daughter will receive results in a few days. Amio's are 98.8% accurate. I believe it is the best thing we could have done. My husband & I went to Magee's Hospital in Pittsburgh for counciling. After, we had a fetal cardiogram & read everything we could find. If you get a possitve diagnosis, I recommend contacting 'Help Me Grow' in our area, also 'The Upside of Downs' of Greater Cleveland. Of course, I'm here... I don't log on often, but I will be looking for you... Peace ~ M.

I understand it's scary. I guess she needs to ask herself whether she would terminate the pregnancy if the true results WERE to come back positive. Or is the main goal just soley for preparation purposes if there were a problem. I too have heard of SO many false positives on those screenings and feel that they cause SO much unnecessary grief. Especially to people/parents who are already worried enough about pregnancy and the changes it will bring to their lives.

I wish you and your family luck and pray that everything is ok with the baby.

It's very hard to deal with but I think Doctors know right away. My aunt had a boy with down syndrome and the doctor begged her to do testing for it but she refused because she didn't want to know. She wasn't prepared for it though. I'm very close with my aunt and cousin and have taken care of him for five years. They are a gift. You must have the time and patience to deal with it. It's an emotional roller coaster but children with downs are the sweetest and most loveing. Theres a lot of support groups to help you deal. Stay positive and have your daughter do the further testing to be sure!

Hi M.,
First of all, there are a lot of false positves involing the blood test she had. I too had the test and it came back positive for down syndrome. My husband really wanted me to have an amnio, but I did not want to take the chance of something going wrong with it, even though there is a very low risk. My thoughts were this...regardless if I were to have a baby with Down Syndrome or not I would love my baby unconditionally. It would not affect my decision to continue to carry our child. By not choosing to have the amnio though, it made it difficult between my husband and I. I also based my decision on the fact that I am only 29 years old and Down Syndrome does not run in either my husbands side nor mine. Plus the high risk doctor checked for some of the early signs of Down Syndrome and he did not see any red flags. He said the only way to be absolutely sure though was to have the amnio. I hope this helps a little!

Hi M.,
Please let your daughter know that she DOES NOT need to be alarmed if she received a "positive" result for Down's Syndrome, etc from this test. This is an OPTIONAL test (which I was not informed of), and if I were given the choice again, I would not have it done. This test is widely known for giving false positives and causing much unneeded stress on the part of the mother-to-be and any other concerned parties. I was given my results, which showed that my baby was a "high risk" for Downs, and worried about the health of my child for quite awhile until I was able to have a more detailed U/S. Then they told me my baby was perfectly healthy and there was no need to worry.

I don't know your personal feelings on the subject, but I was going to have my baby whether she had Downs or not so if I become pregnant again, this test is NOT one I will be opting for. Besides, you have to be careful of the amniocentesis, which is what they will perform if you get a positive result, since that can actually cause a miscarriage.

I hope this helps, and please DON'T stress if she received a positive result.

Katheryn

As the previous posts suggest, there are many false positives. My pregnancy came back with a false positive and we elected to not perform the amnio (risk was higher for miscarriage than a baby with Down syndrome). My daughter was born healthy and remains a constant source of happiness and resilience, who also happens to have Down syndrome.

By the way, for the other postings it is not downs or down's and the person should not be refered to as a down baby. It is Down syndrome (capital D and lower case s). This is a pet peeve of mine, obviously.

With so many false positive results, we should be educating the soon to be parents about the results. Having a child with Down syndrome is not the end of the world (it may feel like it at the time, but as a parent you change your perspective of the envisioned life for that child). There are many people who are on a waiting list to adopt a child with Down syndrome. Peoplem who have Down syndrome lead very fulfilling lives and can become an important part of society, if only given the chance.

Take care and feel free to contact me directly.

Does an abnormal test result mean the baby has a birth defect?
No. This test cannot diagnose a birth defect, it only can indicate an increased risk. An abnormal screening test result simply means that additional testing is needed. Out of every 100 women who take a maternal serum screening test, about 5 to 7 will have an abnormal result. However, only about 1 to 2 percent of women whose test results show an increased risk of Down syndrome will actually have a baby with Down syndrome. Similarly, only a very small number of women whose test results show an increased risk of spina bifida and related birth defects will actually have an affected baby (a woman’s doctor can give her a better estimate of the risk to her baby, based on her test results).

For many of the rest, the abnormal test result simply indicates that the fetus is either a few weeks older or younger than originally thought. Because the range of normal results varies with the weeks of pregnancy, it is very important to know the accurate gestational age of the fetus. The gestational age of the fetus should be confirmed by ultrasound if there is any question about it. Another common cause of an abnormal test result is a multiple pregnancy (twins, triplets, etc.).

It’s important to remember that follow-up (diagnostic) tests usually show that a baby does not have Down syndrome, trisomy 18 or an NTD. Pregnant women who do not understand that most women with abnormal test results have healthy babies may experience much unnecessary anxiety.

hope this helped

I agree that with everyone else who has heard of lots of false positive results. I was even told by my doctor, that the test should never be done for reassurance, and should only be used if you plan to act upon it (either through pregnancy termination, or, as suggested below, for healthcare preparation for the baby). I chose not to have it with either baby, but your daughter already had it, so that point is kind of silly for me to make :-) I do want to interject that, while amniocentesis is considered a relatively safe procedure, my aunt had one done, and ended up leaking amniotic fluid through her whole pregnancy, only to have a little boy whose lungs never developed BECAUSE of the lack of amniotic fluid available to him. I would suggest that your daughter think very carefully about further testing (high level ultrasound would be my preferred choice!) If she knows she wants to have her baby no matter what, then I would recommend avoiding the amniocentesis. It sounds like the moms who have Down Syndrome children, have said exactly how I feel too: I think a mother wants whatever child(ren) she has and will love her child no matter what obstacles. I liked how one mom said it was a matter of changing HER own goals and dreams for her child. Just as any child, a child with a disability will only benefit from having parents who can see their child's full potential. It's sad when I see people stating that their child was born "normal." I think we all need to help teach our children that "normal" is all in how we perceive things and to focus on everyone's abilities! Enough from me, but good luck to your daughter!

Hello M.!

We were given a 1/5 chance of down's on a neuchal translucency test (done around 12 weeks, I believe). We didn't want to risk a miscarriage by having an amnio, so waited until delivery to find out our baby was perfectly fine. There is no reason to do invasive tests, unless your daughter would want to end the pregnancy if she found out the baby was abnormal. Else, I recommend looking up all the risks of amnio, etc. Her ob-gyn can schedule ultrasounds further along in the pregnancy to check for down's markers. We read up on down's and care for a down's child to be prepared - just in case. The tests they're doing nowadays check for the possibility of down's, which also means many false positives of down's.

Our prayers are with you!

K.

M.,
I had the screening done during my last pregnancy in 2002. Results showed a 1 in 11 chance of down syndrome. I declined the amnio because I felt it was too risky but did have a level II ultrasound where they are able to pick up on certain features or characteristics to further determine down syndrome. My 1 in 11 chance turned out to be a false positive. My daughter is now 4 and completely healthy. Congratulations Grandma to be, and good luck to your daughter!

I also had a positive result from the screen. I went to a specialist who did a special Ultra sound and there were additional factors in measurements that had them believing that there was a large chance my son would have downs. I had the amnio done and he is a healthy baby. He is now 14 months old without a problem in the world

Hi,

Many times those test do have false positives. I would highly recommend getting further testing which would be an amino. All doctors have to confirm results with a specialist when a patient gets results like this, however a good OB would be able to notice the signs of downs in a regular ultrasound. She could have been crying because she thinks it really is true but technically can't say until the specialist confirms it. I tested positive for Anencephaly and had to go back for further testing. My Ob kept telling me it was a lab error all the while she was crying. I knew she was lying. My pregnancy ended at 20 weeks. Sorry to sound dismal but the only thing you can do is stay strong for her, get further testing, and perhaps prepare yourself. I was young and in perfect health. Sometimes bad things just happen. I have gone on to have a beautiful son.

Good Luck!

Hi! I had the exact same thing happen to me. My blood screening came back positive. I had a high level ultrasound done and it showed that my little guy had a thick nuchalfold (back of the neck area) I then went on to have a amnio (because I just needed to prepare myself) and everything was fine! I have perfectly healthy 18 month old baby boy!!! All those tests are just screenings....to know for sure you need to have a amnio. My risk ratio for my son having downs was 2 in 50 and the risk of the amnio was much lower. Good Luck!!

I just went to the obgyn yesterday to talk about those tests-- he said they were not relieable at all, just a feeler to see if you may want more tests. But in the small chance she may have a down syndrome child, I have a chromosome abnorality child, and as hard as it is, my daughter is the biggest blessing and when she is happy she is the happiest cutest child ever. Just give your daughter love without too much advice when it comes to these things.

Hi M.. I wouldn't worry. I honestly don't understand why they even screen for down's, since the false positive rate is so incredibly high. I wouldn't worry just yet. She can always have an amnio done, to determine for sure, if her baby has down's. That way she can begin to research it and prepare herself for what's to come. Best wishes to your daughter.

Hello!!

Congrats!! I work for an OB/GYN. Im sure tht testing she will need to do is a high level ultrasound. Thats usually what we do. Your rightthere defintiely are false positives. That test is very touchy. Everything must bee accurate to obtain a accurate reading. (weight, gestation, age...etc) Studies have shown that when an ultraound is done..docs look for the nasal bone and the area on the back of babys neck. Providing these things come back normal...the risk is tremendously lower for Downs.

Best of luck with everything...feel free to contact me directly for anything further!!

first off let me say Best of luck to you and your daughter on the new little one. I'm pregnant with our 3rd. and I passed up this test on all 3 of my pregnancy's. I just couldn't handle the rate of false positives. I read a lot and searched and knew it was best for me to not take the test and get all worked up over it. If there is no children, brothers or sister parents or grandparents with Downs then I would never do this test. This test has more false positives than I have seen positives.

Hi M., when I was pregnant with my son, my doctor told me it was very common to get a false positive on the down syndrom testing. We decided not to do the test. If the test came back positive, it would change our decision to have the baby, and not knowing meant less stress for me. She might be stressing over nothing, but none the less, it's natural to feel that way. I wish you the best of luck, and I'll keep you in my prayers!

I am 28 weeks pregnant and struggled with the decision to have the screening test at all b/c there is a high false positive rate (I'm not sure of the actual statistics). My doctor had said if there was a positive result the next step would be to have a level 2 ultrasound and then meet with a genetic counselor who would help with the decision of whether to have an amnio or not. Your daughter should talk to her doctor to see what comes next. I'm sure it is not just a matter of waiting until the baby is born. Good luck.

I would try not to worry. These tests are preliminary and often come back with false positive results. Amniocentesis is the only test that can give even a marginally accurate result, and that test is not 100% foolproof.

There are a lot of other conditions, too, that can give a false positive test result.

Whatever the situation, however, the child is a gift from God. My brother-in-law's youngest sibling was born with Down Syndrome in 1980. This young man is now a power-lifter in the Special Olympics, has a job, and lives a full, functional life in an assisted living community. He's funny, generous, and caring. Blessings often come in surprising packages.

Hello M.,
YES!! It happened to me!! I had the triple screening done with my first child and the same thing happened. Needless to say I was freaked out too!! But my doctor said that this happens and it dosen't mean that the baby is going to have downs syndrome it just means that there seems to be a higher risk for it and they will test further. It isn't even in my family at all so I was really confused. I had to have an amnio done and everything turned out fine. The amnio wasn't too bad. It didn't really hurt alot just a little discomfort. And you have to rest for a couple days after you have it.
I am pregnant again and opted not to be tested again since it is optional!!
If your daughter is under 35 and it dosen't run in the family I am sure everything is just fine!! I think that test just gives you unnecessary anxiety! Good luck and I hope that everything turns out fine.

Hi there. If your daughter had the "trisomy" test done that tests for the three different types of birth defects, tell her not to worry too much. That test is notorious for having false positives, that is why I didn't even bother to have it (I just had my daughter a month ago). There are quite a few follow-up tests that they need to do to confirm it, so tell her to try not to worry and to just wait and see. (I know that is easier said than done). Also the doctor might have been chocked-up because they were reacting to your daughters reaction, or is just a very sensitive, caring person. Good luck and I'll be praying for her and you.

During my 2nd pregency I had a positive triple screen...meaning I had a 1 in 200 chance of the baby haivng downs syndrome. We went in the next day for a in-depth ultrasound and left feeling pretty sure the baby was healthy. The looked at the heart in depth, the lengths of the leg bones, and the head size. All things that are common issues with Down Syndrome. Everything looked good but they would not say no she does't have it. We were offered an amnio but felt the risks outweighed the chances of her having D.S.. An amnio is 99% acurrate they say. For us it did not matter. I would have your daughter talk over all her options for further testing with her doctor or even a specialist. I was lucky enough to work in a handful of maternity wards at the time and questioned everyone I came in contact with. Knowlegde is everything. Our daughter was born healthy. I do always say if we have any more I will not have the test again. You and yours will be in my prays.

First of all, stay calm. No test is 100% accurate. My sister-in-law (who is currently about 21 weeks pregnant) just received a test result 2 weeks ago that her baby may have a 1/57 chance of a deformity in Chromosome 18 (it is not Downs, it would actually be worse). The whole family was concerned for her and my brother. More blood tests were performed and the result was not as drastic (something more like 1/300). She is opting out of the amnio, mostly because of the new result and the fact that birth defects in children with this deformity are very evident on ultrasound (and thus far, none have been noted).

Her sister does have a daughter with Downs. There was no family history of it prior to Kaylee, and no tests predicted it. When she became pregnant with her second daughter, they ran every imaginable test (including amnio). Jasmine was born without Downs and perfectly healthy in every other way. Kaylee works with an occupational therapist and is a wonderful, loving child. Blessings come in the most unexpected packages.

Ask the doctor to run the test again if you want to. In the mean time, give your daughter much love and help her not to worry the rest of her pregnancy. God Bless!

hello. I am 11 weeks preg and have an appt for a new downs syndromw test on monday. My sister and i were just talkin about that today. This is my 3rd child, and my older sister has had 3. She said on her 3rd preg, her results came back with abnormalities on her downs test. They did further testing, and my sister said she didnt care what the results were she was still having this baby. My nephew is 8, and he is perfectly fine and healthy. When my dr was just telling me about this new test that has to be done before 13 weeks and 6 days, that there is always a chance of a false positive. Tell her to go for the testing if she wants but chances are everything is fine.