1St Trimester Genetic Testing Questions..

Updated on March 26, 2012
S.L. asks from Urbana, IL
21 answers

Alright, so because of my age, i did my first trimester genectic testing (nt scan & bloodwork). Well, my NT scan came back good, but one of my blood tests was screwy and because of my age - they couldn't lower my risk factors (i will be 37 when i deliever) - and i got a 1:91 chance of having a baby with Downs. So... they are suggesting and amnio. This test wasn't available when I had my son 5 years ago, and I chose then NOT to do the bloodwork because of the false positive ratings - and they would of done an ultrasound to see any abnormalities if the blood test results came back different...so I'm at a loss of what to do. The nurse started talking about terminating the pregnancy so i have to do the amnio by 21 weeks - but that's not an option for us, but i'm afraid of stressing out constantly about these results too (I WISH i never did this test). Can an amnio provide false positivies too? Any moms been throught this - i would love to hear your thoughts and how you decided what to do.

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So What Happened?

Thanks everyone for sharing your experiences. I actually found out my results on a friday and already had a 4 week checkup scheduled for monday. All your experiences helped me relax and ask my doctor many questions. I'm waiting to hear from MFM now, and will have a 2nd level ultrasound for the 18th week. She wasn't too concerned about the results i got, and told me that we can talk after the ultrasound and go from there. She also said if i'm 30 weeks and still can't seem to rest without knowing, that she would set me up for an amnio then.

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answers from Dover on

Yes, an amnio can give a false positive...it happened w/ my sister's friend. However, there are other things the amnio can detect (which can be fixed prior to delivery and/or have specialists on hand at delivery to handle). I chose not to have an amnio w/ either child (1991 & 2006) because the test would not change anything and abortion was not an option. We chose not to have the possible stress of worrying about the results but in reality, there are things they can do for other conditions.

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answers from Kansas City on

I declined the amnio because the results did not matter. I was more concerned with the possibility of miscarriage or early labor (although there is a very small chance of this happening with an amnio, it was still a chance I did not want to take).

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answers from Boston on

Amnio results are real and will not give false positives, at least for Down's. The DNA either has an extra 21st chromosome or it doesn't.

I had amnio for my first two pregnancies and I was in my 20's. For the first. my son had some soft markers for an increased chance of Trisomy 18. For my second, his triple-screen test (which is now the quad-screen) came back with an increased risk for Down's syndrome. I would not have terminated in either case, but I would have changed my plans for birth, maternity leave etc. if either amnio had come back positive. Thankfully, both were fine.

Amnio isn't just about terminating pregnancies, it's about knowing whether or not you have to prepare for a different birth experience or will be caring for a newborn who has health and development problems. For example, with Down's syndrome, one might want to deliver at a hospital that can provide a higher level of neo-natal care and has surgeons on-site who are prepared to do surgery on the heart or spine soon after birth if necessary. If you work, you would need to line up a childcare provider who is experienced with and capable of caring for a child with health and development problems. For something like Trisomy 18, one would probably have a c-section to lessen the physical trauma that vaginal birth would cause a T-18 baby, etc. and prepare oneself emotionally for the possibility of still birth or early infancy loss.

For me, the amnios made sense because my own doctor's record of miscarriage from amnio is much lower than 1 in 250, the odds of these very challenging problems were relatively high (1 in 200), and I didn't want to have the rest of my pregnancy overshadowed with doubt and anxiety. I wanted to know, either way, right then and there.

If you're unsure of what to do but know that termination isn't an option, then you have the option of more time. Perhaps you can wait until a later u/s gives your a clearer picture of what you may be dealing with, if anything. There are many soft markers for Down's - they're not as accurate as an amnio, but things like the presence of the nasal bone, the length of the femur, the absence of a white spot on the heart and other physical indicators can be good signs that there is nothing to be concerned about. Maybe you can have another u/s weeks from now that will be more reassuring instead of amnio? Or if you opt for amnio, maybe it's possible to do it later when if you were to go into labor, the baby would have a chance of survival? I don't know if there is a window of time when amnio is not possible.

Anyway...I'm sending you big hugs. This kind of thing can be so scary - I wish you the best, whatever you decide and whatever the results say.

8 moms found this helpful


answers from Columbus on

I feel for you!! I was 35 with my first child (38 with my second) and I, too, was offered the amnio (and other tests) but after thinking about it and talking it over with my husband, we decided against it. Besides the risks, there was nothing I would have done even if it had told us something bad. God gave us these babies for a reason whether perfect or not and I wasn't going to do anything to jeopardize that. Had I done the amnio and it caused me to miscarry I couldn't have lived with myself.

And now, I wouldn't have a wonderful 17-year old son and a 14-year old daughter that are the lights of my life!!!!

I don't know if you pray, but if you do, maybe you could pray about it and put it in God's hands. Then you'll realize it is totally out of your control and be able to calm down and enjoy the pregnancy!!!

Good luck and my prayers are with you!!

4 moms found this helpful


answers from Minneapolis on

I didn't do first tri testing, exactly because of this posibility. I DID do the amnio because that is the most accurate test available.

You have a chance of Downs of 1:277 because you are 37. So, your 1:91 is just slightly higher than average for your age. I had a 1:91 because I was 40.5 years old. My amnio relieved any concerns I or my husband had about genetic abnormalities and we relaxed and had a perfect daughter. The test is easy, painless, and can put you at ease. Or, it can inform you of any special challenges you might have with this baby, if that is the case.

I'm one that needs to know, so that I can plan, so I did the amnio. If you are OK not knowing, don't have the amnio. If you want to know, have the amnio. Having an amnio has nothing to do with terminating a pregnancy, unless that is your choice. It is about information.

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answers from Phoenix on

I'm so sorry for the stress these test results are causing you. My heart is full of empathy for you. The fact that your NT scan came back within normal limits is excellent as it carries more validity than the blood test results. Since termination is not an option for you, you do not need to feel pressured into having an amniocentesis. There is a small risk to your baby with an amniocentesis, but it is not a bad idea to have it done if it will relieve your worries and help you enjoy the pregnancy. You have the option of waiting till your 20 week Level II ultrasound (your history qualifies you for a higher level ultrasound) and based on findings, revisit the option of amniocentesis. Amnio is less likely to give inaccurate information, but there have been rare cases where it has not given completely accurate information about the fetus. I feel for you as my middle child's ultrasounds from 20 weeks on revealed "soft markers" or findings sometimes associated with Down's Syndrome. I had skipped all the prenatal screenings because taking the life of our son or daughter was not an option for my husband and I. Amniocentesis was offered, but we declined knowing that for us it would make no difference in how we cared for our offspring. I had to wait until birth to know for sure, but we were blessed with a completely healthy, normal, 9 # baby boy. It was one of the happiest days of my life when I heard the pediatrician say that all was well.
Although the nurse's words may have seemed rude and unkind, in this era of "wrongful birth lawsuits", she is doing what she legally must to protect her own nursing license and the license of her physician. She must tell you your options and let you decide. I am a pro-life certified nurse midwife, yet I would have had to inform you of the same information--just hopefully in a more sensitive way. Nurse Midwife Mom of 3

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answers from Kansas City on

I had my last child at age 38 and got the question if I wanted the amnio. I refused it because I would have the child either way and didn't feel I needed to panic even if there was an issue. I would love the baby either way and learn what to do as needed. The baby was fine. Actually the question of my age came up earlier when I had a child at age 34 and one at 35 1/2. They too were fine. I would not do the amnio and enjoy the pregnancy without all the added pressure from the doctors. My doctor said he delivered downs babies a few times only and they were to younger teens and they are much more at risk that mothers with children already having another baby in late 30's. The amnio can cause miscarriage too and that may be a perfectly healthy baby you would lose....or one that was not so 'perfect' but needed your love and care.

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answers from Albuquerque on

An amnio will not provide a false positive. You will get real results. But, amnios do have risks, most specifically - miscarriage. If you're not going to take any different action, you may not want to take that risk. A 1:91 chance of a baby with Downs means you have less than a 2% chance. And given how many "false positives" the first trimester blood test provides, your chance is probably far less. Good luck with your decision.

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answers from Philadelphia on

Age was not an issue in my pregnancies, but I did the 1st trimester screen anyway because I need information. Luckily for us our probability from the screen was very low (1:5000, I think). However, if it had come back at 1:100 I probably would have had the amnio done. For me terminating was not an option either, but the added stress of not knowing would have made the remainder of my pregnancy terrible for my entire family and the baby. If the results of the amnio came back positive then we would have had a few months to read about programs for kids with Downs, things you can do to help with development, etc. I knew that would be my decision before I did the 1st trimester screen. If I hadn't planned to find out for sure then I wouldn't have done either test. As far as I know an amnio will not give you a false positive.

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answers from San Francisco on

I opted out since it was not going to affect my continuing with the pregnancy. Wasn't worth the risk. I wish you well on your pregnancy and the best for your beautiful baby that's coming!

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answers from New York on

im sorry to hear that .. i was too far along to do the 1st trimester screenings i thought i was 8 weeks at my first appointmet turned out i was 12 .. i was concerned and my doc said not to worry about it because its early on in the pregnancy theyll be other tests.. i was around 17 weeks wen they did all the blood tests for the 2nd trimester screening i was worried because i never got the 1st tests and she said dont worry about it the second trimester ones are more acurate anyway because ur further along now... could u wait until u get results from the second trimester blood ttests?.. also i was about 3 days away from being 20 weeks wen i had my 2nd trimester ultrasound.. if u waited until then ud stil have time to make any kind of decision if they said u needed to decide by 21 weeks wether or not its worth the risk to do an amnio.. i would try as hard as u can not to stress yourself out about it .. i hope this helps



answers from Waco on

I am 37 and just delivered a happy, healthy baby girl in December. I refused amnio and did not have the genetic testing done. The question you have to ask yourself is "Would the results of the test change anything for me?" The answer for me was no. Down Syndrome or not, I was not willing to terminate my pregnancy and it was not worth the risk of miscarriage for me to know one way or another. Ask yourself, what would I do if I found out my baby had Down Syndrome? Would you terminate the pregnancy? Or would you love that baby just like you love your other children? My best friend growing up had a brother with Downs and he was and still is an amazing person! Knowing him personally, I couldn't fathom killing someone like him (let alone my own child) just because of a genetic "defect". I also didn't want to risk losing my baby either just so I could know if the baby was "normal". It just wasn't a risk I was willing to take. You have a 98+% chance of everything being just fine. Those seem like pretty good odds to me!



answers from Springfield on

I have a strong opinion on this. I did not do an amnio during either of my pregnancies and thank God I didn't! From what I gather, the test is either pos or neg for chromosome abnormalities but not specific as to which one. My 9 yr old was born with trisomy 47 which is a very mild chromosome abnormality and she has minimal differences from any other child. She is a happy healthy normal child. She has a little anxiety and is ADD. She gets A's and B's in school and plays both competitive softball and basketball. What if we would have had an amnio, saw a positive result, and aborted her?? I think the test is a terrible idea. Please do not take it! God will not give you more than you can handle:)



answers from Huntington on

If terminating this pregnancy is not an option, why go through it? I am not sure about false positives w/ an amnio, but I have heard so many stories about the screenings. While I am sure you want to know if the child has down's, if you will carry this baby anyways i wouldn't do it. There are risks involved w/ an amnio. I know you may worry until you deliver, but you can worry no matter what.
A friend of ours was told early on that her baby had spinal bifida. They advised her to terminate. They did MULTIPLE ultrasounds on this baby and kept telling her the same thing. She refused to terminate, and carried the baby to term. He was FINE. Perfectly healthy and is now turning two years old in June. They make mistakes, tests are wrong. The odds sound very small. And if the baby does have down's he/she can live a very healthy happy life.
A friend of mine was told that by the measurements of her baby's femur that he had a high chance of being down's. Her and her husband are both pretty short. They advised her to get an amnio too, and she didn't. Her baby is also 100% fine. These tests I think do more harm then good, unless you have a risk factor for a serious disease.
Stay calm and breath, I bet your baby is just fine!



answers from Chicago on

The advice my Dr. game me was: if the results would change anything for you, do it. If not, don't.



answers from Chicago on

I work in healthcare and when I was pregnant with my 2nd child - I was going to be 37 when I delivered. During my 2nd trimester -we had a patient come in who had delivered a beautiful baby - with spina bifida. However because she had an amnio - she knew about this ahead of time - and had in-utero surgery - to repair the defect. The baby is beautiful. I realized then that although abortion was out of the question for me - knowing ahead of time that a problem could exist - would give me time during my pregnancy to emotionally and mentally prepare so that when my baby was born - I could enjoy that time with them at home - rather than go through those emotions after the birth. The amnio was normal - thankfully - but I realized that doing it ahead of time - gave me the piece of mind necessary to enjoy the remainder of my pregnancy. Best wishes -



answers from Chicago on

I was 34 when I got pregnant with my youngest. The doctor suggested the same test too. My husband replied, "No thanks...if there is a chance that the test could terminate the pregnancy we are not interested. I will love this child no matter what." I delivered a healthy boy at the age of 35. We gambled and it turned out fine.



answers from Seattle on

Well, no test is perfect, but the amnio giving a false result is rare. You can also have a CVS (Chorion Villus Sampling) but the miscarriage risk is a tad higher for this procedure and it is a tad less reliable than an amnio.

On the other hand there is no reason that you HAVE TO do the amnio, if the nurse told you so she is flat out wrong! Having any kind of prenatal testing is purely elective, you can do it if you want, but there is no reason that you must.
Me personally, I embrace it and would get it done as soon as possible, as termination would be something I would consider.
But if terminating the pregnancy is out of the question for you anyways, you could just as well skip the amnio and get a detailed ultrasound to find out if your baby has any health concerns like a heart problems that are common in babies with Down syndrome, that need to be addressed at birth.

BTW, a nurse talking about termination after getting first trimester screening results is deeply unprofessional and it is not her job to interpret the results for you (and frankly most nurses do not have the training to do so properly) you should have seen the doctor about this.
The screening is not and was never intended to be a diagnostic tool! The screening cannot diagnose Down syndrome or any other other genetic abnormality. It is purely meant to assess the risk/likelihood for certain conditions to better assess which women would benefit most from further, more invasive testing like the amnio. It is a statistical measure based on soft markers. Suggesting you terminate the pregnancy based on screening results is ridiculous.
My mom-thought on this whole situation is that me personally, I would find another provider or at least complain to your doctor about this nurse. Good luck.



answers from Chicago on

I delivered when I was 35 with my last pregnancy. I also had a positive blood test and was recommended the amnio. I went ahead with the amnio as it was explained that it is 100% accurate. The amnio itself was not bad at all. I had my test done at Prentice in Chicago. The regular test results take 2 weeks to receive. Of course there is an option for a quicker result that insurance does not pay for and it is hundreds of dollars. I went ahead and paid the money because my family didn't want the added stress of waiting.... Our amnio came back with no problems. I too wish I had never done the bloodwork test and didn't even have to think about the amnio! I am now told that the blood test is so inaccurate and have heard of so many other women having false positives....



answers from Charlotte on

Ask for CVS to be done. That can be done quickly.

Good luck,



answers from Washington DC on

I think you answered your own question. If abortion is not an option for you, only do the amino for your own information, IF you want it. Personally, I would have made it known to the nurse that it wasn't an option to stop that conversation. I think she was unprofessional. I think that was a conversation to have with your OB, not the nurse.

I know that later on my DD was measured and some of those measurements (heart, limb length) can also indicate the health or special needs of the baby. Amnio carries it's own risks, so I would think about if you simply want a head's up as to what to expect with your child or not. Then go back to the OB. I would say, "Okay, it's not going to matter what the result says, but what risks does the amnio carry as far as my overall pregnancy?"

Also, these tests are still not 100%. There's a set of parents that sued because they were told their daughter was normal and she has Downs and I know people who were told it was highly likely that their kid had a problem and the child didn't. Or people who had a child with NO indicators before birth of the specific issue the child had.

All the testing is elective. I had my daughter's neck thing measured before 13 weeks, but I didn't HAVE to. You can refuse the amino. At this point, it's informational for you, so perhaps have it later since the 21 weeks limit isn't an issue for you.

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