Positive First Trimester Screen

Updated on February 27, 2008
I.S. asks from Saint Clair Shores, MI
27 answers

I am 41 and just had a positive first trimester screen. The test result indicated that the chances of me having a baby with a chromosomal defect like Down Syndrome is 1/160. I have read tons of journal articles and research about this test. The statistics are confusing and vary from study to study. I am going to have an amniocentesis in a couple of weeks to test further for problems. Has anyone else had positive results on their first trimester screen? Please share your experiences. I would also be interested in hearing from anyone who may work in the field of genetic counseling if you happen to see this posting.

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So What Happened?

My amnio is scheduled for March 17th. I will let you all know how it goes. I am so thankful for all of the responses. It has helped put me at ease a bit. I am scared and appreciate all of your heartfelt responses. Thanks for the kind words too.

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B.H.

answers from Grand Rapids on

I received the same results many years ago when I was pregnant with my daughter...she is now in her first year of pre-med at MSU. Since then, I've learned that false positive results are common with that test. Good luck to you, and try not to worry.

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J.

answers from Detroit on

Hi I.-
I had all kind of "problems" detected by the many tests that are supposed to prepare you and the doctors for complications. Well I also have two perfectly perfect daughters with absolutely no medical problems. Dr. Borg at Wyandotte is awesome. Look him up if you need a paranatologist. He was the only one who really explained what they were looking for and how they make determinations, etc. Hope this helps.

J.

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A.H.

answers from Detroit on

I am 39, just had my first baby and also had a positive first trimester screen. From what I understand it is normal for elevations with older moms like you and me. I did not do an amnio, what for? I wasn't planning to do an abortion and I did not want the tiny risk to the baby for miscarriage. I did however get a 3-d ultrasound with a perinatalogist. This is a non-invasive way to take a peek at the baby, get measurements that can show if there are brain and/or cardiac abnormalities which can be common with Down Syndrome babies. Everything turned out ok and I hope it does for you too. I was very worried and stressed after my screenings came back positive. I almost wish I didn't do the screenimgs, but unfortunately we needed those results to show the need for the more involved ultrasound. Hang in there!

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K.Y.

answers from Detroit on

I also had a positive result for this screening test. They told me I had a 35% chance of having a baby with Down's Syndrome. I was automatically scheduled for genetic counseling and an amniocentesis was set up. I spoke with my doctor and he said this screening test is prone to false positives, but there is no way of knowing for sure without going into further studies with the amnio. (I wish I had known that before I agreed to the screening)
I chose to cancel the amnio because whatever the turnout was going to be it would not have changed my decision on whether to keep my baby or not.
Today, I am blessed with two boys who do not have Down's Syndrome. I never had the screening performed for my second child.
I was 35 yrs old at the time and had a high risk pregnancy for other reasons.
I know my decision was a personal decision that I made, but I hope my experience helps you.
K. Y

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C.H.

answers from Grand Rapids on

My ultrasound with my first child indicated that she would have Trisomy 13 or Spina Bifida. (I never had the triple test.) The sent me to a geneticist and she explained what we were in for and asked if we wanted the amnio. THEN...they sent me to the 2nd ultrasound to tell me that they had no idea what the other ultrasound showed, but there was nothing of concern. My daughter does have some sensory issues, but is otherwise healthy.

I decided against the amnio because it can increase the chance of miscarriage. I also knew that even if it was positive, it wouldn't change anything. I would love the baby no matter what and I wouldn't terminate the pregnancy, so I figured why cause any other problems like infection or miscarriage.

I have also heard that the triple test has a high false positive rate. I know how scary it is to even hear there may be something wrong. I hope your tests go well,but your baby will be perfect, no matter what the results.

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L.V.

answers from Grand Rapids on

I had a false positive result when I was pregnant with my son and decided not to have the amino because of the harm it could do to the baby. I did go through ultrasounds and non stress tests to keep a balance on knowing what was going on though. I figured I wasn't going to abort the baby if it was downs so it didn't matter what the animo said why risk it? My son was perfectly healthy from birth on and is too smart for his own good. He is now 9 and I was 30 when he was born.

The false positive did freak me out a lot though and I worried after having it so when I was given a choice to have it with my daughter I declined even taking the test. People did keep telling me that so many people have false positives.

I hope everything goes well for you.
L.

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J.T.

answers from Grand Rapids on

Hi I. -

I am assuming that you had the quad test-? If so, I also had that one come back positive with my first child 2 years ago. I was freaked out to say the least. We also had an amnio and it came back normal.

Let see if I can explain it the way it was explained to us...How my ob described it was that the quad test did not say that your odds for having a baby with chromosomal defect where 1/160, but that if you got 160 women in a room, there was the probability was that one of them had the chance of having a child that would have a defect. But that all could be normal.

For my 2nd child we did the Early Screening test instead of the quad test. It involved an ultrasound and 5 drops of blood from a finger prick. It is done much earlier than the quad (11-13 weeks) and is much more accurate.

Feel free to email me back if I can help you.

J.

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J.M.

answers from Detroit on

I had a positive test result with the chances of 1 in 14 odds of my child having down syndrome. We got the level 2 ultra sound and everything appeared normal so we chose not to get the amniocentesis. The level 2 ultra sound is really neat and they measure everything to determine if there are any down syndrome characteristic (cant spell) traits. I know MANY people who have had false positive results and everyone of their babies turned out fine. Good Luck.

A.B.

answers from Detroit on

I had a horrible experience with the AFP test. I was "extremely high risk" for a child with Spina Bifida or abdominal problems. I cried and read internet articles for 2 weeks. I declined the amnio but after a level II u/s and retaking the AFP test everything came back normal.
There are TONS of reasons your test could be a "false positive" including age, weight, lab error etc.

Good luck and try not to worry:)

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C.M.

answers from Detroit on

Did they confirm your dates? I had a positive screen and they did an ultrasound that day and changed my due date by 3 weeks. I know that your dates must be perfect for that test. When they changed my date everything came back normal. Also during the ultra sound they can look for the physical abnormalities of Downs (like a shorter leg bone, and larger than normal head).

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A.S.

answers from Detroit on

I know it's terrifying having a positive screen- a cousin had several positive screens with her kids and had amnios. All her children are completely healthy and normal and delightful. The odds really are in your favor - the initital test is a pretty inaccurate screen. I had an amnio with my third son because I was in my late 30s - I was so nervous too but the test really wasn't bad - much better than going to the dentist! I'm keeping my fingers crossed for you, but am pretty sure that everything is going to be just fine. - Alison

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D.W.

answers from Detroit on

I was 38 when I had my first child and 40 when I had my second. Both times I had 'positive' results from that screening - both times I had Amnio - and the babies were fine. I have had friends in the same situation. Don't stress over that test - it is inaccurate more than it is accurate and I can't believe they are still doing that test. Good luck to you.

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L.C.

answers from Saginaw on

All good information that you've already received... but here's a piece of information that you may want to ponder between now and the 17th...

No screening is without risk, which compounds the risk of problems, rather than alleviates them. There is nothing that Downs syndrome needs prior to birth that makes knowing 'better' for (unlike congenital heart defects, which can be treated before birth), so there is no real advantage to having the test results (which may or may not be accurate).

The *real* reason for the early screening is to enable you to abort an imperfect child. There are a lot of ethical issues surrounding this -- as the earlier the invasive screening is done, the more dire the consequences can be (smaller babies move more unpredictably, more rapidly and further than bigger, older babies, and can be more easily be injured and killed accidentally by the needle).

So... if you are not willing to have the abortion, the screening need not be done now. Or, frankly, ever.

I happen to be pro-choice, and believe very strongly in a woman's right to her own body... but if you wouldn't abort your baby because of this, think very carefully about the risks you are selecting.

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R.W.

answers from Jackson on

There are so many false positives with that test.

Just to put your mind at ease a bit. 80% of Down Syndrome babies occur in Women UNDER the age of 35.

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T.B.

answers from Detroit on

I have 3 children and have had 2 positive Screens, and all of my children are blessedly healthy and happy. When I got my first + test, my doctor "reconfigured" my due date, as he called it, and that put my previously positive test results into the normal category. Talk about confusing!! I didn't know if I was + or normal anymore - all I got was a new due date. My 3rd child also came with a + test along with a number of other "concerns" due to my age and a chronic medical issue of mine. Again, we were blessed with a healthy baby. Both times I was offered/advised on the amniocentesis but declined for personal reasons. The risk for our family did not out-weigh the information it would produce, since the test results would not influence our decisions with the baby anyway. It is a very personal and scary situation to be in. My thoughts and prayers are with you.

(My numbers on #3 for the test were 1/230 - I don't remember the first one.)

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H.L.

answers from Detroit on

You are not alone! I had a positive result with all 3 of my children and none of them were born with any abnormalities. That test is prone to false positives. Just having the test a few days early can change the results. With my first son, I was scared, but they redid the test and it came out normal. With my second son, I wasn't as concerned as it had happened before. With my daughter--a surprise--I was extremely concerned because they told me my results came back 1/40!!! I had an amnio and the results came back normal. I was 27,29 and 34 respectively. If the test was always right, you would see far more children with Down Syndrome or spina bifida. It just isn't accurate!

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K.V.

answers from Grand Rapids on

I have a different twist to this. I DO have a child with Down Syndrome and at 26 years old my quad screen came back normal for my age. I've heard statistics as low as 60% for that test being accurate. Why the medical profession continues to use it is beyond me. The only way to know genetic issues for sure is amnio. A 30 week ultrasound measured one of my baby's arms as being shorter than the other (NOT true) and the Dr told me sometimes this can happen if the baby was laying on that arm (then why tell me there's a problem??). I also have a friend that was told via ultrasound that her baby didn't have a gall bladder (NOT true). With my second baby we the only test we opted for was ultrasound and only because we wanted pictures for the scrapbook.

An excellent support site where lots of women show up with false positive test results is the Down Syndrome Pregnancy board on www.babycenter.com. And if the amnio does show DS there are lots of women there who are going through/have gone through the same thing.

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A.I.

answers from Lansing on

hello I.
let be start by say test are not always right with my first daughter the test came back the same way i was only 19 so they order the ameo not a real fun test that came back that mostlikley have downs the only thing they new for sure that she was a boy well she was born eight week to soon and a girl there was not a singel thing wrong with her so test are just a doctor way of making money .so relax and try not to dwell to much on the test right now god for bid the test came back on the bad side would it change weather or not you would carry the pregnancy to tirm if you would either way i am not sure i would do the test well good luck and congrat hope all turns out well for you

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J.F.

answers from Detroit on

This test can be a very scary one for moms to be, because most all of the results for everyone are positive. With all the hype about concerns of moms to be who are 40, it can be even more unnerving. When I was 29 I went through this and when I was 32, I went through it again. I read everything I could get my hands on, and the best advice I read was to refuse to take the test in the first place. The information it provides is not reassuring, and to address a positive test, you would have to take an amniocentesis. So, if you're that concerned, skip the first trimester screen and plan on taking the amniocentesis. Spare yourself those extra weeks of worry which you don't need right now. I ended up doing amniocentesis. My advice there is to do a little research and ensure you have a good, solid doc to do the test. I insisted on the head of the department, because the risk with amnio is in the doc's technique or experience level: something you can control. In the meanwhile, try to relax and realize that the first trimester screen is a test designed to give all pregnant women their risk level, whether it's one in a million, or one in ten chance of whatever that may be. It's mostly a statistical risk, based on several factors. It doesn't mean there will be a problem with your baby. Take care and be good to yourself.

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J.W.

answers from Lansing on

Hi! I have many friends who are younger than you at the time of the test that also came out positive...and, the ones that decided to have the second tests and they still came out abnormal, kept their unborn children had successful pregnancies and the children did not have any abnormalties at all and today are very active, bright children. One of my friends that chose to abort after the first test came back abnormal regrets that decision to this day. My advice is to have the other tests that they want to do and pray...make sure that you can live with your decision whatever it may be. I personally think those tests are not very accurate and refused them-just from what all my friends have gone through. Good luck and know that you are in my prayers

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L.H.

answers from Detroit on

I was 34 and pregnant my second time when my results came back positive. We went through "genetic counseling" before I had a very extensive ultrasound, read by both doctors and technicians. The counseling explained we had a slight risk of a downs baby, actually more likely than your percentage. The ultrasound was indeterminate and we did the amniocentesis. Our test was December 17 and we had to wait until after the new year to find out the results. Fortunately they were negative. Then in May we had a daughter who is now 8 years old. My husband does have a second cousin with Downs who is 14 years old now. The most frustrating for me, aside from the longer wait than usual due to the holidays was that the "genetic counseling" wasn't what I would really have called genetic counseling.

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L.J.

answers from Grand Rapids on

While I am not a genetics counselor, I am a counselor at our local pregnancy care facility. Do you know that during this first trimester of your pregnancy that your baby has his/her brain, spinal cord and nervous system established, the heart is beating since day 21, the liver is producing blood cells and the brain is already controlling movement of muscles and organs. Also, the jaw is formed, including teeth buds in the gums. Not only is everything now present in your baby that he/she will have in their body as a fully developed adult, but your baby is now personalized with a set of their own fingerprints! Your baby has been very busy!
I understand that being a bit older as an expectant Mom is challenging and the risks for the baby to have something "wrong" with it is higher, but it is no surprise to the creator, God. In Psalm 139, He tells us that He sees us before we are even formed in our mothers wombs, and that all of our days are written in HIs "book". Isn't that amazing?!
We have a down syndrome child in my husband's family who has now lived to the age of 43-she has been an absolute delight to us and her parents! I consider her one of God's special creations.
While I understand the idea of amniocentisis, may I challenge you to reconsider taking this test? There are risks to the baby. Even if the test shows down syndrome, there is nothing to be done to cure it. This is just how God has created this person.
I will pray for you and your baby-for a safe pregnancy, delivery and healthy baby.
L..J.
about me-I am a mother of four grown children and four precious grandchildren ages five months-seven years.

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H.W.

answers from Detroit on

I don't know much about the 1st trimester screenings, but I can tell you that when I was pregnant with my 8 month old I went through alot of testing. Since I have Lupus they ran test after test and some came back that we needed to do further testing. Sometimes the tests that the doctors use to see if they should do more accurate testing can cause needless worry. I would wait for the amnio before you worry. Just so you know some of my tests worried us, but my son is perfect. Have faith and try to enjoy your pregnancy. I would hate for you to take such a precious time in your life and spend it with such worries. 1 in 160 amounts to less than 1%.

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T.W.

answers from Grand Rapids on

Hi I.,

I am by no means an expert on this subject and I'm curious to hear some feedback from someone who works in the field but I know 3 people who had these tests and were told the chances were good for their baby to have some form Downs syndrome and ALL 3 had healthy babies. I didn't have these tests done and really, in my heart, believe that they're useless. These parents went through h--- for nothing and have healthy, happy babies. It's just not worth it....if they were more accurate, fine but they're not. Just my 'experience' with it.
Good luck to you:)

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P.R.

answers from Grand Rapids on

I had that test with my first child and opted ot for my secondchild.I also tested high for the defect,I cant remeber what they said my odds were but it was very high. Abortion or adoption wasnt an otion for me I knew what ever God gave me I would handle. I was worried through the whole pregnancy and when my daughter was born she was 100% healthy, no defects she was fine.
I just wanted to share my experience through the whole triple test ordeal.God bless!!

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L.N.

answers from Benton Harbor on

Yes, I also had the same thing happen. After I freaked out I discovered that it is VERY common, even though my doc told me it wasn't! I opted for the amnio even though I knew we would not terminate the pregnancy no matter the results. I just needed to know to better prepare myself and give my child everything he needed. I was terrified of the amnio, but it was really no big deal, and turned out normal. I've since had 2 more but to test for lung maturity for my c-sec. date (different baby). Keep in mind that 1/160 sounds like a big number but if you divide it out, the percentage is still very small! Good luck and if you have any amnio questions, feel free to msg. me!
~L.

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L.B.

answers from Detroit on

I had my second child at 35, and more than one of my first trimester screening tests came back with positive or ambiguous results. At the point where I had the option of an amniocentesis, I was well into my 4th month. I had some morning sickness in the early months but otherwise I felt fine, and after weighing the risks of the amnio against the odds of my baby having a genetic defect, I decided not to have the amnio. My doctor supported my decision, and when my big healthy boy was born, his only defect was a pilonidal dimple (at the base of the spine). This, apparently, was what one early test had indicated as high risk of spinal abnormality. He is now a normal, healthy 6-ft tall 15 yr old.
I know this sounds unscientific, but when I was in your position I read all the research, talked to my doctor, weighed my options, and then trusted my instinct, which told me that my baby was fine. When you're over 35, the risks of problems are statistically greater. But there are so many factors not taken into account in those numbers - the mother's overall health, lifestyle, family history, etc. I know of so many older moms who have been worried sick by abnormal test results, and all gave birth to healthy babies. The only mom I know whose baby was born with defects was young(26)and had no abnormal test results. Trust your instincts!

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