Questions About 1St Tri-mester Screenings for Down's

Updated on January 27, 2007
L.W. asks from Cleveland, OH
21 answers

I am having the 1st tri-mester screenings done this week, which include the U/S and bloodtest which detect Down's Syndrome and other chromosome and genetic problems. has anyone had these screenings done and what can I expect and when can I expect to get the results? Any information would be great! Should I get questionable results, I will take the next step and have the CVS invasive tests done. Anyone have experience with this as well? Thanks in advance!

L.

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So What Happened?

OK, so I had the neuchal u/s done this morning at University Hospitals here in Cleveland. They said the measures look within normal range (YEAH!), but that the final results should be available no later than Monday (they send the blood to a lab in NY). This is only the 2nd week that they have been doing this screening, that's how new it is here in Cleveland. I will update you all with the final results, but so far so good!

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M.P.

answers from Cleveland on

I opted with my first pregnancy and now this one to not have the tests done. My OB (who I trust immensely) indicated that there is a large rate of false positives and unnecessary amniosI would rather not know and stress out about things I have no control over. Good luck with everything!

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M.N.

answers from Columbus on

L.,

I had the test done - it took about a week if I remember correctly and my doctor told me that if I got questionable results to be prepared for how far I want to go with testing and if I really wanted to do the invasive test for myself and for the baby.

Basically he was telling me is this, do you want to know or do you not want to know and if you do want to know, are you ready for the questions that arise from knowing?

Good Luck,
Mel

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C.M.

answers from Cleveland on

I have just had my babys test done. I am anxiently awaiting the results. I am a first time mom too. I have heard that u can sometimes get "false postives"and then so, retaken. Older moms are higher risk too. This test is an elective, but my doctor(dr.diane ____@____.com womens clinic)suggested on so. Who do you see?

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N.T.

answers from Columbus on

This test is done on all pregnant women. When they did it on my daughter(now 2 years) my dr. said that the Nuchal fold was bigger than it should be. This is fluid around the neck, and the measurement of it tell the dr if further testing needs to be done. I had this test at 10 weeks pregnant. I also had the AFP blood test done and that came back positive. They sent me for a level 2 ultrasound which is like the one at a dr's office you can just see a little better. Anyway there are 7 markers for downs that they look for, they measure the femur bone, look at the nose,neck,heart,fingers, and I can't remember the rest. My daughter did not have any of the markers they were looking for. So obvioulsy she was born perfectly healthy. So if you were to be told that the Nuchal fold is larger than it should be, don't panic it could mean nothing. Also with the blood test I had a false positve and I have known quite a few other people who have had the same thing. It is known for giving the false positve results. Hope this helps and I hope everything looks good!

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C.

answers from Cleveland on

Hi L.,

I had our first child one month shy of my 38th birthday and am now 39 and due any day with our second. My doctor never even gave me the option of having those tests done. He said at my age he would only do an amnio. He said what you really are testing for is a possible heart, liver, birth defect that can be corrected or will require a specialist in the delivery room, not downs. I thought about it and read up on the amnio test and decided that the stats they had really don't tell you anything. If you read close enough you'll see that more downs children are born to younger mothers than older. And there isn't any report that tells you, of the fetus' that abort after an amnio, whether the fetus had a birth defect or not. It finally came down to me pituring myself lying there getting the amnio done and all I could think is that I would be saying... I shouldn't be doing this. I am lucky enough that the hospital I deliver at (Akron General) has a neo-natal unit and also has Akron-Childrens right across the street. What I opted for instead was a 3d ultrasound. This was done at the hospital (Dr. Laven) and is just like a normal ultrasound but the equipment is more high-tech and allows them to see all four chambers of the heart, the liver, etc. As someone else mentioned, it just depends on how you feel and what you expect to do afterwards. I wouldn't have done anything different regardless of the results. Good luck!

C.

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T.L.

answers from Cleveland on

you shouldnt be concerned i think everything will be fine it is a little scary thinking about it but good luck, and congrats.

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K.T.

answers from Columbus on

I got pregnant with my first daughter at the age of 39 (in 2004), and I chose not to have amnio done, but rather an "Ultrascreen" ... which sounds like what you're having. It is a combination of 3D ultrasound along with blood work. The results of the ultrasound came back suggesting that the baby had a short nasal bone which can be a soft indicator of Down's Syndrome. However, once the blood work came back a week later, everything looked fine. I was SO upset that they gave me partial results instead of waiting for the complete results, and the week of waiting was HELL.

I am now the proud mother of a perfectly healthy daughter who will be 3 in March, and I had another perfectly healthy baby girl in May 2006 (at the age of 42!). I chose not to do any testing at all during my second pregnancy.

Good luck!

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K.M.

answers from Columbus on

Hi L.,
Please DO NOT be alarmed if you receive 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. I'm not sure if it becomes "required" at the age of 35 or 40. Either way, 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 plese DON'T stress if you receive a positive result. Congrats!

Katheryn

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M.S.

answers from Columbus on

I never had it done, BUT, just a word of caution, you are right, there is a very high rate of false positives that occur. My sister is a nurse, and she told me she had a total of 24 positives out of a posible 36. ALL of them turned out to be true negatives, so don't panic if it comes out postive.

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S.Q.

answers from Cincinnati on

I have two children, and had these screenings done with both. With my first child everything came back fine, but with my second it was indicated that the baby might have Down's Syndrome. We went through the next step and found out that everything was fine, the doctor had miscalculated my due date by a few weeks. We were really relieved! We are currently expecting our third child and I will have the tests done with this pregnancy also because despite the high rate of "false positives", my husband and I both feel that knowing everything we can about our baby will help us be better prepared to care for our baby properly. Just keep in mind that the rate of "false positives" is fairly high and should you get a "positive" for anything, try to stay calm and not stress out too much until you have further tests done.

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K.I.

answers from Cincinnati on

L.,

Other than being 35, do you have some reason to worry? The Ultrasound and blood test are quite good indicators these days. The more invasive tests can cause miscarriage and fetal defects. Did you have the screenings with your 2 yo? You can expect the results in, I think, a week. If you get "all's well" results, they will insist you sign a letter that says, "no, I don't want amniocentisis." I was 35 with my first, and 37 with my second; both are just fine.

Best wishes, and let us know when you get your test results, OK?

K.

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H.A.

answers from Dayton on

You may already have got some feedback. I'm a 1st timer at this and had it done - knew nothing different really. The ultrasound was cool as you get an early picture and the bloodtest is just a finger prick - amazing, would have been happy to offer up more blood given all it trys to rule out. Ours came back good - ruled out to about ~95% for downs, chromosone 13 & 18 (? if that's right) and 45% of heart defects. Doesn't sound like it's a practice of all doctors, so i was pleased that mine does this testing.

Good luck

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H.S.

answers from Cincinnati on

When I had my first son, nine years ago, I had what they called a tri-screen. Which sounds like the test you will have (something like it anyway). My test came back that there was a chance my son had downs because I was so young (17). So I had an amniocentisis done. That was scary, since they were sticking a foot-long needle in my belly (it didn't hurt, though). I got the results about three weeks later (he was fine). I think the dr.'s office called me to tell me I needed the amnio about a week or two after the initial screening. Also, remember it is just a "screening"; it doesn't mean they've actually found anything, it's just that some people have higher risk factors for genetic abnormalities and need furthur testing. Hope that helps. Good luck and congrats!

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M.

answers from Cincinnati on

L.,

I was 35 when I got pregnant with my (1st and only) child and had turned 36 by the time I had her. They do a tri screen blood test that checks for Downs as well as a couple of other factors.

You can call the DR.'s office after a couple of days and get your results if you're anxious. Generally if everything comes out correctly, you won't need any further testing.

Hope that helps.

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S.T.

answers from Cleveland on

I have 4 kids and with all of them I didn't have the tests done. I refused them. If i were to have these done and something came up abnormal i would just worry. It didn't matter to us, if our child has an illness or anything we would deal with it and love our child.

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T.

answers from Cleveland on

Hi L.,

This is a standard test they do on all pregnant woman and it only means something if you have more than one marker. The results will be told to you at the next OBGYN visit unless something is really different, than they would contact you before. But in general you shouldn't have to worry about any tests in advance. I know they were checking me (having my second baby now and I am 28) because they thought they somehting on the Ultrasound at 26 weeks, but they bloodtest for the downsyndrom was negative and histroy as well as age were wrong so then what they saw means nothing they said. Basically never worry unless they find something and they can prrof it with more than the initial test, which means two to three more tests, because anything they see on first tests is very unsure and needs to be proved by other tests before they can be sure something is wrong.
There are several standard tests they will do on you and evern if something comes up, other than Down syndrome or gentic defects there is always some way to resolve it.

T..

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M.M.

answers from Canton on

hi,i'm at 28yo stay at home mom.i have been in ur shoes before.when i was about 3 mo preg.with my daughter,they had to do more bloodwork and ultrasounds.on the test where they test for down syndrome and spina bifida.my test came back real quick high results for spina bifida.after more test ,they found out my daughter had gastroschesis.i was so relieve that they found out really early.that is where she had a whole in her stomach ,her small bowel and stomach were on the outside.they had to do immediate surgery once she was born.i got the best care in akron.anyways,don't stress sometimes their test could be wrong too.best wishes and good luck!!

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K.

answers from Dayton on

We had the nuchal translucency test, and blood screening during our first trimester with our last baby. The ultrasound checks the width of the nuchal fold (distance between baby's spine and skin at the back of the neck). The thicker, the more they assume your baby has Down's. Between the two we were given a 1/5 chance of Downs. I didn't want to risk the amnio since we wouldn't have aborted regardless of what it showed. That's a decision up to you, but please research the risks and complications of an amnio before you do one.

If we have another baby we'll skip the nuchal test. It's relatively new, and seems to be high on the false positives. Our baby was perfectly fine, but the test made us anxious and took a lot of the joy and excitement out of our pregnancy.

Just something to consider before you actually do it! God Bless, hope this helps.

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T.B.

answers from Youngstown on

Hi L.. Congrats on your pregnancy.I had to have this test done with both my kids because I have an Uncle who is Downs, or as my Grandmother calls him "an unfinished angel". Both my tests came out negative. I will say that I was raised by my grandparents and lived with my Uncle, and a positive result would not have made any difference to me.Maybe being raised with him in the same household I view things differently. I do know that the downs kids are amazing people! My uncle is totally crazy about my son. That is his buddy, and God forbid I should discipline him infront of Joey. He yells at me and I laugh because except for swear words there isn't much you can understand. Anyway don't stress about the tests, they are routine, and if anything would show on them your Dr. would call. Good luck and let us know how everything turns out.
T.

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J.

answers from Cincinnati on

I had those test done for all 4 of my pregnancies. My husbands 1st son had a birth defect that was not detected because they did not do those test. His delivery became troublesome because he needed to be transported immediately to Childrens Hospital for care. Had the test been done he could have been delivered in a saver situation. He is fine now married and expecting his first child any day. That is why we had the test. Our 3rd daughter had a terminal birth defect, she was born @ 7 months and was with us for 7 minutes and returned to the angels. We found out at 18 weeks that we would not be able to keep her with us for long. We decided to keep her with us as long as we could.

We had tremendous doctors and one would always ask prior to any test we took, "what are you going to do with the information" I guess he meant will the results of the test change your mind as to wether or not you will continue with the pregnancy. If it is not going to change your plans (if you will keep the baby no matter what the results) why do dangerous test.

with our 4th child he was high risk we did the initial blood test and some advanced ultra sounds but choose not to do anything more invasive. That was based on our results from the other test. It did not matter to us what might be wrong with him and none of the test were needed for a safe delivery.

What the dr office did do as common practice with anyone who was high risk had to come in 2x a week after 32 weeks for a non stress test and ultra sound. I thought that was a waste of time until the second visit the first week and there was a problem. I came back the next day @ 3:00 pm and delivered by emergency ____@____.com i had not gone in for those test that I thought were a waste of time my son probably would have been a case of fetal demize. He was moving around up to the minutes before he was delivered.

I think if you have a good dr you can talk all this over with him or her. The test can be very helpful especially if special precautions need to be taken at delivery. But you also need to ask your self what are you going to do with the information. We had a very rare birth defect that affected our 3rd daughter. We did talk to a genetics specialist so we could pass on information to our other children when the time comes for them to be parents.

Ask yourself what you would/will do with the infornation you get then you can decide if you want to take the risk of the more serious test.

God bless and take care of yourself and your new little one. I hope everything works out.
J.

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P.C.

answers from Dayton on

L.,

Because of my age, I was 38 when I got pregnant, the Dr. recommended that I have the neuchal ultrasound around 11 weeks of pregnancy. I went to someone who specialized in ultrasounds, so I thought everything was fine. He conducted the test and sure enough the fat on the back of the baby's neck was outside normal limits; it was too high. This can be an indicator of Down's or other genetic abnormalities. He told me that there was an 85% chance that my baby would have Down's or other abnormalities (they told me trisomy 9 or 18 was a possibility). What he did not do was the blood test along with it. I went through about 4 weeks of not knowing if my baby had a potentially life-threatening genetic abnormality that could end my pregnancy. My Dr., who was supposed to have been great with high-risk pregnancies, even went so far as to say he was 85 - 95% sure that my baby was abnormal based on these findings; he went on to say the ultrasonographer really knew what he was talking about because that is what he did all the time.
At 15 weeks, I had an amniocentesis at another facility with completely different dr.'s. Thank God I did! My results came back completely normal; my baby was fine! They told me at this new location when I went through genetic counseling there that there was no way the other results could have been accurate, because it was an incomplete test. You can't predict genetic abnormalities in a fetus based on the neuchal ultrasound alone, without the mother's blood during that gestational period.

So please make sure that you do get both the u/s and the blood test and make sure that it is done by a specialist in medical ultrasound, not by a sonographer who also does the 4D pictures. In order to make an accurate diagnosis they have to be doing 2D Medical High Resolution ultrasounds.

I wish you the best of luck. Even if you do get questionable results, follow up with a second opinion with a specialist for high-risk pregnancies (a perinatologist). Don't just trust someone because of reputation alone, even if you have heard it from several different sources in the community as I did!

P.

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