Quad screening, I'm freaking out :(

Re: Quad screening, I'm freaking out :(

• VexyMommy member

  June 2015

  First, creepy internet hugs to you sweetie.  This is a rough thing to deal with and the anxiety of not being sure is probably the worst part.  I haven't dealt with this personally so I have no practical advice for you beyond saying whatever the outcome, this isn't the end of the world.  You and your family will figure this out.  As scary and overwhelming as this may be, you will find the ability to deal and support your family in the best way for you. 
  

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• dogsombrero member

  June 2015

  There are quite a few posts on a "positive" quad screen. It sounds like you are still very low risk just higher than your age bracket. You do not need to get an amnio for a definitive no. There are simple blood tests (1 vial) that give a yes or no for down's syndrome and the other trisomies. The tests have a variety of name like panorama, verify and matern21, they take approximately 2 weeks to give you results and are non-invasive. I would discuss with the genetic counselor this option first. If you haven't had the anatomy scan and have no other soft markers chances are your child is just fine. Try not to panic until you have all the information, this is really very common with the quad screen which is why many offices are not using it anymore.
  

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• lws0528 member

  June 2015 edited June 2015

  If the doctor said you are "positive for Down Syndrome" that is misleading. The quad screen is just that--a screening test to tell you if you are at increased risk for certain genetic issues. I got flagged on the quad screen for slightly elevated risk for DS and had the Panorama blood test done which is more accurate. Got the results yesterday and it can back that I actually have less than 1 in 10,000 chance for DS. The quad screen is not super accurate--for instance if 1,000 people took the test, about 50 would get flagged for high risk and only 1-2 of those babies would actually have Down Syndrome.
  
  Edited for spelling.

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• Ceridwen77 member

  June 2015

  The cell-free DNA test (panorama, materniti21, etc) is still not diagnostic. The only way of knowing if your baby 100% does or does not have a genetic disorder is to get a diagnostic test - an amniocentesis or CVS. These tests are actually quite low risk for miscarriage. You should discuss all options with your doctor as the cell- free DNA test is probably a good next step. Then you can consider a diagnostic test if you still have concerns.
  
  I'd also ask my doctor what my risk is. That could help to ease your mind. Good luck.

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• jasbaby2 member

  June 2015 edited June 2015

  We got afp blood testing results. I think this is part of the quad screen. Ours went in the other direction. Higher than normal. Mom of 2.51 when normal cutoff is 2.5. On the higher end the screening is for possible neural tube defects.
  
  We met with a perinatologist who did an ultrasound. He was not concerned and said they get a lot of people who tested outside the normal range but have perfectly normal babies. I know how scary this is but try to stay calm. One of the things he perinatologist was interested in is what other testing we had had done and what the results were. He said that when something is wrong there will often be earlier signs either in an ultrasound or previous bloodwork depending on what you did.
  
  I would also want to know my risk and what my numbers were.

  DS- June 2009
  
  

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• vrossolille member

  June 2015

  I was confused when she said that because I did the panarama and it still only gave me a 1 in whatever number. I dot remember the exact number she just said it was very low risk. And going into it I was under the impression it was a yes or no. It just doesnt have as many quirks as the quad screen. Like the date of conception (birth date) and timing of test, there was a lot of factors that could mess with the results of the quad screen. I was told as well the only definitive yes or no would be amnio or cvs. I went through the high risk with the quad screen with my last. He's is fine and AFTER the whole pregnancy they noticed they had my due date written down wrong. Smh- all that worrying for nothing!

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• cattledog1979 member

  June 2015

  I am surprised that the did a quad screening. There is more accurate testing available now. I had a positive quad screen with my first pregnancy. The ultrasound showed no signs of Down syndrome. She is now a healthy happy 4 year old.
  I had genetic testing done at 10 weeks this time around. It was a simple blood test that ruled out the trisomies.
  Good luck and try to relax.

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• jscasher member

  June 2015 edited June 2015

  I don't know the difference between a quad screen and the other tests (panorama, maternit21) but if she said you're low risk I wouldn't stress too much just yet.

  
  

  I got put in a high risk category after my panorama test came back showing a 1:19 chance for Digeorge's syndrome, but even that is only a 5% chance of baby ACTUALLY having the genetic disorder. So if I'm high risk with a 95% chance everything is ok, I'm sure your low risk numbers look much better. 

  
  

  Either way, your baby is lucky to have you and I will be sending you positive vibes and hope everything turns out for the best. *Creepy hugs*

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• stahlxoxo member

  June 2015

  Ceridwen77 said:

  The cell-free DNA test (panorama, materniti21, etc) is still not diagnostic. The only way of knowing if your baby 100% does or does not have a genetic disorder is to get a diagnostic test - an amniocentesis or CVS.

  Agreed it isn't diagnostic but they are about 99% accurate.
  
  When I got flagged on NTD testing I went to see a high risk doctor and had my level 2 ultrasound, where they found no soft markers, he instructed me to get the maternit21 test done and if that came back normal there was no need for further testing. We waited for 2 weeks for the results to hear our little boy had typical chromosomes. We still need to get one more level 2 ultrasound done to make sure that nothing shows up with age but all of our doctors are pretty confident in the blood work. Listen to your doctors but make the best decision for yourself too.
  
  I'm sure your baby is just fine though! Prayers to you as you wait for results.

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• gipfish member

  June 2015

  Also keep in mind in the off chance that your baby has it, that just because a baby is born with Down's doesn't mean it's not healthy. Some of my favorite people have Down's.

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• Ceridwen77 member

  June 2015 edited June 2015

  stahlxoxo said:

  Ceridwen77 said:

  The cell-free DNA test (panorama, materniti21, etc) is still not diagnostic. The only way of knowing if your baby 100% does or does not have a genetic disorder is to get a diagnostic test - an amniocentesis or CVS.

  Agreed it isn't diagnostic but they are about 99% accurate.
  
  When I got flagged on NTD testing I went to see a high risk doctor and had my level 2 ultrasound, where they found no soft markers, he instructed me to get the maternit21 test done and if that came back normal there was no need for further testing. We waited for 2 weeks for the results to hear our little boy had typical chromosomes. We still need to get one more level 2 ultrasound done to make sure that nothing shows up with age but all of our doctors are pretty confident in the blood work. Listen to your doctors but make the best decision for yourself too.
  
  I'm sure your baby is just fine though! Prayers to you as you wait for results.

  With the current data, it's 99% accurate for Down's syndrome, 98% accurate for trisomy 18 and 65% accurate for trisomy 13. So yes, fairly good odds for those three disorders, but there are other disorders that it does not test for that a cvs or amnio do. Not sure if you were trying to correct my statement by quoting me, as what I said is accurate.

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• dogsombrero member

  June 2015

  Ceridwen77 said:

  The cell-free DNA test (panorama, materniti21, etc) is still not diagnostic. The only way of knowing if your baby 100% does or does not have a genetic disorder is to get a diagnostic test - an amniocentesis or CVS.

  Agreed it isn't diagnostic but they are about 99% accurate. When I got flagged on NTD testing I went to see a high risk doctor and had my level 2 ultrasound, where they found no soft markers, he instructed me to get the maternit21 test done and if that came back normal there was no need for further testing. We waited for 2 weeks for the results to hear our little boy had typical chromosomes. We still need to get one more level 2 ultrasound done to make sure that nothing shows up with age but all of our doctors are pretty confident in the blood work. Listen to your doctors but make the best decision for yourself too. I'm sure your baby is just fine though! Prayers to you as you wait for results.

  With the current data, it's 99% accurate for Down's syndrome, 98% accurate for trisomy 18 and 65% accurate for trisomy 13. So yes, fairly good odds for those three disorders, but there are other disorders that it does not test for that a cvs or amnio do. Not sure if you were trying to correct my statement by quoting me, as what I said is accurate.

  I think she is trying to address the OPs worry of Down's Syndrome due to an elevated risk on the quad screen not to correct you. I'm not sure. I am the one who initially wrote about the blood screen and you wrote after about it not being diagnostic (which is correct). Based on a small elevation on the quad if the blood test is good, if it was me at that point I would decline to go more invasive due to the outdated info from quad screens but I think you may have said the same earlier in the thread.
  

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• stahlxoxo member

  June 2015

  Ceridwen77 said:

  stahlxoxo said:

  I was not trying to correct you since I did say "agreed" I was agreeing with you that it wasn't diagnostic. I was also reassuring the OP that the blood test can be pretty accurate if she doesn't want to do something invasive. I was in this situation recently and worried about amnio being invasive so I was just stating there are easier ways if she chooses to do that.

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