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Genetic screening


Forum: Pregnancy Over 35

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  • 2 Post By H_Hplus1
  • 1 Post By momof8lopez
  • 1 Post By NCRG2010

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  #1  
June 12th, 2013, 06:14 AM
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Join Date: May 2013
Posts: 18
I am considering foregoing all screenings...mainly because our insurance doesn't cover it. The OB/GYN seemed pretty dubious though. She said most women do get screened for genetic abnormalities. I asked whether skipping the screenings would cause any problems at labor, and she said no. Since of the screenings, only the amnio seems to give you definitive information, I asked her about doing only an amnio, but she seemed very hesitant. She said that if the baby has a serious abnormality, it will most likely show up at the 18-20 week ultrasound. I am concerned about being unnecessarily freaked out by a false positive.

Is everybody getting pre-birth screenings? What about women who are going to a midwife? It's starting to seem like one more unnecessary intervention.
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  #2  
June 12th, 2013, 07:06 PM
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Join Date: Apr 2008
Location: Houston, TX
Posts: 1,055
I didn't get them with my first 2 pregnancies. I did with my 3rd, though...that's how I found out something was wrong with the baby (miscarriage). Didn't make it far enough with the 4th. I'll get testing done with this one.
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  #3  
June 12th, 2013, 08:03 PM
mirdeemrlvs's Avatar Mega Super Mommy
Join Date: Feb 2012
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I've never had testing done with my children. I would never consider terminating a child and the idea of getting a false positive and stressing me out is not worth it to me. When I asked the risks of miscarriage due to the amnio, it was worse odds than the chance of us having a baby with abnormalities.
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  #4  
June 13th, 2013, 04:18 AM
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Sorry for your loss, Ms. Baxter. Thanks for sharing.
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  #5  
June 13th, 2013, 07:23 AM
H_Hplus1's Avatar Supermom to 6
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Location: Georgia
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This pregnancy I did the Verifi (similar to MaterniTi 21) blood test. It gives a pretty definitive answer for the three trisomy's. Between that and the anatomy scan I felt it would give me a good picture of what or if there should be any concerns for the baby. Screening or testing doesn't mean you would terminate but could help you and your team of medical professionals prepare for a more complicated birth.
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  #6  
June 13th, 2013, 12:34 PM
momof8lopez's Avatar Platinum Supermommy
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Location: illinois
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Quote:
Originally Posted by H_Hplus1 View Post
This pregnancy I did the Verifi (similar to MaterniTi 21) blood test. It gives a pretty definitive answer for the three trisomy's. Between that and the anatomy scan I felt it would give me a good picture of what or if there should be any concerns for the baby. Screening or testing doesn't mean you would terminate but could help you and your team of medical professionals prepare for a more complicated birth.

I did the MarteniT21 blood test at 12w6d and the NT scan. I have screenings done with all 7 of my children, and this one got the new blood test. Old or young, it is helpful to know what to prepare for at birth. This new blood test is 95% accurate, and the chance of a false positive is almost not even possible like the other screenings they do. Although, if positive, they recommend getting the amnio to verify to 100%.
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  #7  
June 16th, 2013, 07:58 AM
Rainbow Catcher's Avatar Bound and Determined
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I've been struggling with the same questions myself. I know so many people who got false positives and were stressed out and scared throughout their entire pregnancy... and then ended up having perfectly healthy babies. I guess it depends on the test though... thanks for asking the question - the answers are helpful to see what tests are out there!
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  #8  
June 18th, 2013, 10:31 PM
Minilegs's Avatar Platinum Supermommy
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I got the screenings with my first because I really didn't know better. I opted out on all screenings for my son and, will do the same for this one. I don't plan on terminating so anything they find on the anatomy scan is what we'll go with. I have no desire to be freaked out for the rest of my pregnancy and I have no desire to go through an amnio again(had to with pre term birth) so, I will leave it up to God at this point.
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  #9  
June 18th, 2013, 11:27 PM
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I got the m21 test done this month and the nt scan. Both non invasive tests. It has nothing to do with the decision to terminate or not. It has to do with being prepared, making sure if there is a problem you can go to a hospital that is equipped to handle these issues when the baby first comes out. And I am completely pro life but I hate when I see people post they would never terminate ever especially on a mother board where people have to make this decision daily. Someone in my ddc board just had to last week. No one wants to terminate ever. But quality of life comes into play too. It's not just a matter of "downs or not" just a thought. That being said I don't feel like you should have to do any testing if you don't want to. You do what is right for you and your family
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  #10  
June 22nd, 2013, 08:57 AM
Papasgirl's Avatar Down Syndrome Pregnancy
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Well, I am on the fence. I just had my NT scan yesterday. According to my LMP I should have been 13w. At my 7w ultrasound I was measuring a day ahead so based on that, I should have been 13w 1d. The ultrasound yesterday gave a CRL of 7.77cm which translates to 77mm, 13w 6d. So the NT scan should be done at the very latest 13w 6d, so based on CRL I just fit into the time. I also had the level one blood test done. The level 2 test is not covered. The NT scan showed a reading of 2.7mm My doctor said he wanted to see less than 3mm. So I fit into that. There is also a nasal bone present. So all good. Doc said based on the scan he has absolutely no concern. None at all, so why am I panicking?? It seems that I am on the high end of normal and given my four prior losses, I am just terrified. Am I being irrational? I kind of wish I didn't have it done. I loved seeing my baby though and with a great hb of 151! The uncertainty is so stressful and sometimes Ignorance is bliss. I wish I was ignorant
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  #11  
June 24th, 2013, 02:02 PM
H_Hplus1's Avatar Supermom to 6
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A friend of mine opted out of all testing. Had it not been that her regular OB detected an irregularity at her 8 month visit her baby would have died right after birth. He in fact saved her life. She did test positive for a serious genetic issue after the birth. Had they decided to test they could have been so much more prepared than they were. This is why I choose testing. Too be as prepared as possible.

I do understand why some people choose not too. My friend was in her 20's and felt since she wasn't considered high risk there was no point. This same friend has a cousin who chose to do the testing after seeing what she went through. She is only 21 and found out her baby is positive for downs. The young couple are prepared as can be. Her baby boy is due any day now and they are super excited despite the challenges ahead of them!!
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  #12  
June 24th, 2013, 07:01 PM
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Posts: 18
Thanks for sharing. Can I ask what issue your friend had, that was caught at the 8th month and would have resulted in death right after birth if not caught then?
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  #13  
June 27th, 2013, 01:31 PM
H_Hplus1's Avatar Supermom to 6
Join Date: Mar 2011
Location: Georgia
Posts: 1,063
Coarctation of the aorta, aortic stenosis and a large ventrical septal defect . Baby was treated as a COPD pt... basically a blue baby for a really long time. She was in the NICU for months. Came home with a nurse!! Feeding tubes, o2, monitors, round the clock meds to keep her alive. Never left the house unless to the doctor.

Sorry took so long to respond
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  #14  
June 27th, 2013, 02:20 PM
Rebelmommy's Avatar Mommy to controlled chaos
Join Date: Jun 2012
Location: Florida
Posts: 2,687
Personally I would fore go the testing if it weren't for the fact that I already have a child with a neural tube defect So I get the materiT21 test and then decide from there if i will get any more testing.
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  #15  
June 28th, 2013, 06:13 AM
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Join Date: May 2013
Posts: 18
I checked with the insurance company again, and they said they would pay for screening if it was medically necessary. Dr said there was no need unless something looked off on the 20-week ultrasound. I am fine with that, I agree, there is nothing unusual about this pregnancy so far (knock on wood!!!!!). I am relieved to see that the doctors are taking my 35+ age in stride.
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  #16  
July 3rd, 2013, 05:56 AM
fludderbye's Avatar Super Mommy
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Location: PA
Posts: 501
I have never done any testing-

Dr never pressured me one way or the other
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  #17  
July 27th, 2013, 07:30 AM
lelila's Avatar Mega Super Mommy
Join Date: Mar 2012
Posts: 2,921
I worked with a Geneticist last fall who told me about new technology that allows genetic testing through your blood, without invasive testing.

Fetal DNA Testing During Pregnancy | Prenatal Genetics | OHSU Center for Women's Health
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  #18  
July 31st, 2013, 05:25 AM
Lily81972's Avatar Regular
Join Date: Jul 2013
Location: Deer Park, NY
Posts: 78
New here. I had the Maternit21 since I had Ntscan and blood came back 1:8 chance of trisomy 13/18 due to my age 40. The Maternit21 came back normal, the waiting for results was the hardest. Would not do an amnio since I had miscarried in the past and I would not take that risk. I just wanted to be prepared.
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