Abnormal Genetic Test Results?

Updated on January 28, 2008
A.B. asks from Madison Heights, MI
12 answers

Has anyone else gotten abnormal genetic test results? My Dr called me yesterday to inform me that my last genetic test result was "very high level abnormal" and my baby could have spinal or abdominal problems.
I have read/heard that this test is wrong alot, but I don't know what level of risk is usually wrong?

I didn't want to get these tests but it was the only way that I could get an ultrasound before 20 weeks. I won't be terminating the pregnancy regardless of the results.

What can I do next?

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So What Happened?

We went to Dr today and the ultrasound looked great (thank God). Baby looks perfectly healthy and we are having a boy. I re took the AFP test just to rule out lab error and the retest came back "normal". The tech told me that if you spot the week before your test it can alter it and I did spot 3 days before the 1st AFP test.
Thank you for all of your information and advice:)

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D.F.

answers from Detroit on

My Sister was told that there was a problem with her Daughter and her Daughter was born perfectly healty.

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H.T.

answers from Detroit on

Hi A.,

When I was pregnant with my son, I opted out of this test simply because I was told by my OB that there can be alot of "false positive" results. You may want to get a second opinion or have further testing to solidify the findings. There also is research online regarding this test and the sometimes skewed results. I hope everything works out, but try not to worry too much until you know for certain...I know that is impossible, right??

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C.M.

answers from Detroit on

Mine came back abnormal, and I freaked out! It was because my dates were a few days off. I if they were even 1 day off it can increase your chances. It just shows that there is an elevated risk. They can also do an ultra sound to look for abnormal measurements that are consistant to the particular defect.

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S.R.

answers from Detroit on

I had a false positive on this test. They told me that there was a possibility that my son had Spina Bifida. I stressed over this for weeks until I had the ultrasound that said everything was fine. He is a healthy 15 year old now. There are a lot of false positives. I would get the ultrasound to find out for sure.

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N.M.

answers from Detroit on

Hi A.,

I just got the call today about me being high too. I freaked at first and remembered you. How are you? I get the ultrasound on thursday and think that my doctor could have miscounted. My conception date(which is the day you would starting counting weeks right?) was Oct 13,2007, so I would be at about 16 weeks right now, so I think she is off honestly. I am a bit freaked but I guess based on everything here I will wait and see... I am sure we will both be ok right?

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K.V.

answers from Detroit on

Hello, I had the test for my 2 year old and not for my 10 month old. What would you do if the child was different than most? Would you give it up, or have an abortion? I think that if the answer is no to either of these, then decide to love the child no matter what. I would ask to have the test redone in a few weeks if you really want to know. It could still come back again as a false positive. Have a 3d ultrasound done. Or even another regular one. The only other way to know is to have an amnioscentisis. There is a 1 in 200 chance that if you have this test, your baby will die from having the test. Unless you would do something drastic if you have a special child, then I would relax and love being pregnant and love your baby. Good luck.

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D.G.

answers from Detroit on

A. I sorry to hear about the test results. But I will say this much it happen to me as well. I have a 2 year old son and a 5 month old son as well. The results came back adnormal on my 5 month old. I was so scared and worried about what was going to happen. After about 3 or 4 months I finally decided to set aside the test results in my head and that I was going to love my child no matter. My son is perfectly fine! I believe they had my due date wrong to be honest. Cause when I figured it out I planned my due date for a week early than they did and needless to say the little one came a week earlier than I planned. Just keep you strength up and think positive.
D.

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C.M.

answers from Detroit on

This test is known to be wrong more often right. I am speaking from experience. Even if there were to be something wrong, you will love your baby no matter. Pray for Gods guidance before pursuing more tests. From my experience, I found out later that thin women, test wrong more often. I don't know if they still say that. I was under weight. Also, this spinal issue is linked to low folic acid. If you had been a healthy eater and or on vitamins before conceiving, your risk is lower too.

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B.K.

answers from Detroit on

Yes! My test came back abnormal for my youngest son, I was soooooo worried, I looked online at all the horrible things that COULD happen. My son was born JUST FINE :-) They say the results can come back abnormal if you are off on your date of conception. My advice is DON'T WORRY, get the ultrasound and you'll see everything is okay!

GOOD LUCK with your pregnancy !

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A.C.

answers from Detroit on

I had my baby girl october 24th 2007. I have a son who is going to be 4. With my son It came back abnormal and they said my son might have cystic fibrosis and it freaked me out i cried and all that they even made me go to a genetic consult. In the end he is a healthy 4 yrs old that is smart as can be. Now with my daughter is came back abnormal and they called and said you have to go here on this date blah blah your baby might be downs syndrome and this time i said hmm i bet its wrong if not i will love this baby no matter what. So i had my 3d ultra sound and guess what the lady said i was the 1% that she could not find a thing on the ultra sound. She said usually she can find 1 small thing to be suspicious of but nope she and the dr. i was with said your baby is perfectly normal and yup she came out and is a healthy little girl my next baby i am going to say no to that testing. It came out wrong two times. Also they were gonna do an amnio and i said no way! I am so glad i did not those are to risky for me. Anyways i would not worry so much if you do get the amnio. Good luck and i am soo sorry you have to worry things will work out.

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N.W.

answers from Detroit on

Are you talking about the quad screen? If so, the test only determines if you are at a higher risk for an genetic problem that may require most testing to determine if there is an actual problem. The test does not determine whether an actual problem exists.

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L.M.

answers from Detroit on

I have had abnormal genetic test results and further testing showed there WAS a problem with baby. My % chance of abnormalities was high too. I think those screening tests are pretty accurate at indicating a problem, but there's always a couple flukes I hear of now and then.
I strongly suggest getting further testing. It can only better educate you on what's going on and how to deal with it going forward.
You are in my thoughts and prayers. I hope all goes well!

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