First Trimester Screening Test - False Negative?

Updated on April 11, 2011
H.A. asks from San Francisco, CA
8 answers

Hi there,

I've heard so many stories of women receiving discouraging results from the first trimester screening tests, and then the baby was shown to be fine with an amnio (thank goodness!).

So, has anyone had the opposite experience, having a very reassuring result from the NT/blood work and then the baby born with Trisomy 18 or 21? We were give a chance of 1 in 11,000 that the baby will have problems. Fantastic! But I will be turning 39 when the baby is born, and now am wondering if the accuracy of the test goes both ways, false negatives and false positives. Any personal experience or anything you've heard?

Thanks!

H.

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So What Happened?

Just wanted to report that our bundle of joy was born 2 1/2 months ago and he is perfect! We are so lucky and grateful. :)

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P.M.

answers from San Francisco on

I don't know about whether a false negative is possible, but we had the same odds for our son who was born about a month after I turned 40. He's perfect in every possible way. I was worried about birth defects too before we got the results of the test, but once our odds were so good I was able to allow myself to relax. If you want a more scientific or medical opinion, there are genetic counselors who are trained in answering questions like this. Chances are the tests are right and your baby is going to be just fine. :-)

1 mom found this helpful
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B.L.

answers from Fayetteville on

I hope you read my response...this question is almost a year old. I was barely 36 yrs old when I got pregnant. I was very sick in my first trimester...a sign that the baby was healthy, I was told. I agreed to have all the genetic testing done during my pregnancy and all the test came back negative.(of course the test were negative...I'm barely 36, just a slight risk...) I was so happy...I planned to have a healthy baby. I had 5 ultrasounds and still everything was normal, which is what I was told.

Due to all the tests and everything...I didn't worry about this pregnancy. In fact, when I did worry b/c I felt like something wasn't right, I just ignored my feelings b/c the tests and ultrasounds showed everything was fine.

I went into labor about 3 weeks early...and when I saw my son for the first time, I was not happy. I just went through a horrible labor with no pain meds relived it was over, yet all I could think was a do over. I kept thinking to myself..."I wanna do it all over again so the outcome may be different." I felt like I was dreaming....no...it was like a nightmare. The baby boy who the nurse kept calling mine...didn't look like me nor my husband. Even his smell wasn't pleasant. "Whose baby is this? How can it be mine? " These were the thoughts going through my mind. Almond shaped eyes...round face...wobbly body...the doctor described to me. I didn't know what to think. My doctor collected amnio from my placenta after birth to test it...the test....it came back negative. "well why would they test the amnio unless he has down's syndrome?" I thought to myself.

Then, shortly after birth...the baby's doctor sat down beside me. He said that even though the test keep coming back negative, I still have reason to believe that he has too many characteristics that point to Down syndrome. I cried...panic hit me inside. All I could say is "I don't understand how this could happen"

Sure enough...the next day the doctor came to me and said that he didn't want to give me false hope. That I should hope for the best, but plan for the worst. He requsted a genetic blood screening and when the test came back a week later....POSITIVE. My baby has Trisomy 21.

He is now 2 weeks old...and not a day goes by that I don't cry. Yes, he is my little angel and I love him with all my heart...but, I wasn't prepared. I wish I had known prior to birth. Why? Because I feel robbed or cheated out of the joy I should have felt when a mother first sees her baby. I felt a disconnect like I was holding someone else's baby and not my own. If I had known...then I would have planned for it. The baby I had in my mind died when my baby was born...and even though my new baby is the most beautiful baby to me....it's still a greiving process I have to go through.

1 mom found this helpful
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T.H.

answers from Sacramento on

You should ask your health care provider about the chances of getting a false negative. I think these tests are designed to give very few false negatives. The trade off, then is that they tend to yield more false positives. That's the way statistics work (Type I vs Type II errors). If you think about it, the folks who design the test would rather identify all of the affected babies at the risk of telling some moms with healthy babies that their child is sick. Otherwise, they would have to give fewer moms false positives at the risk of missing a larger number of affected babies. Does that make sense? The test is basically designed to catch as many sick babies as possible--which reduces the chance of false negatives.

The bottom line is that I think a good result has a very, very high chance of being a truly good result. Best of luck with your pregnancy.

1 mom found this helpful
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C.M.

answers from Dallas on

Hi,

We received results "within the normal range" during our first trimester screening - though it was at the higher risk end of the range. In the first part of the 2nd trimester it was discovered she had Down's and a severe heart defect (missing valves and chambers).

I am 41 and my husband 47. We new the odds were much higher given our age.

But don't be discouraged, our son was born perfectly healthy when I was almost 40.

Good luck and may God bless your pregnancy!

1 mom found this helpful
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J.C.

answers from San Francisco on

Hi! I don't have any experience in false positives, but just wanted to say, "Don't underestimate the power of positive thought!" Eat healthy, be healthy, stay happy, and enjoy this pregnancy to the best of your ability.

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D.W.

answers from Indianapolis on

I used to work with a lady who had a false positive on trisomy 21 and the possibility of a child being born with Down Syndrome.

Her son is perfectly normal, but she had to prepare for the worse.

We, personally, chose not to get any screenings because of the probability of false positives and negatives. My sister will have her 2nd child after her 37th birthday, and she only told the family of her pregnancy after she felt they were out of the woods with the genetic screenings - I hope she understands the likelihood of falsities in the results.

Good luck. Hoping you have a healthy child - and if there is a trisomy (either 18 or 21), I hope that child is a blessing in disguise.

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L.D.

answers from Albany on

I'm 36 and 21 weeks pregnant and considered AMA. I was told that there can be false negatives AND false positives and that a screening is just that, a screening. It is not matter of fact like amnio is. In fact, I had the nuchal screening done and was told that just because of my AGE the screening could return a false positive.

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D.Z.

answers from Yuba City on

H.

I was 38 with my twins, and chose to have NO genetic testing at all. I have worked for OB doctors for 16 years and watched people go through mental gymnastics from worry about all the "what ifs" etc. The doctors did not like it, I did have ultrasounds monthly, but I had enough worry. We are not against the testing, just for us we decided that these babies were are children and regardless of all the possibilities, we chose differently. Our twins are healthy, happy, very busy 2 year olds. I also know people with Down's children and everyone of them would do it all over again. I've never met one who wished they'd have aborted.

In all my time in the OB's office, there was only one woman with a Trisomy 18 baby, and 2 with Down's. That's a lot of women going through our offices.

Please do not put undue worry on yourself or your husband. You will need your strength for the labor & raising the child. Congrats on your pregnancy, enjoy it.

D.

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