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Old Dec 10th, 2016, 11:13 AM   11
happy&healthy
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I had this done. Wasn't planning on it, even though I'm 37. But baby has an abdominal wall defect which has a high association with trisomy 18 which is almost 100% fatal. Thankfully, the results came back normal and I'm having a boy!



 
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Old Dec 12th, 2016, 09:54 AM   12
breakingdawn
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Well I took the test and got my results back!



 
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Old Dec 25th, 2016, 14:35 PM   13
minimoocow
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Quote:
Originally Posted by 2have4kids View Post
Oh yes, I was quick to have this done when I found out we had a natural pregnancy while gearing up for our 7th IVF when I was 39. Chances are actually pretty high over 35 of problems happening and I wanted to know WAYYY before it was second tri. They normally do the Nauchal translucency test at the end of first tri between week 12-13 and then *if you get high risk numbers then they refer you to genetic counselling. You wait another 2-4 weeks for your appointment and then another 2 weeks after the test is done. So no matter how sick that baby is if you're positive, there's nothing anyone can do - you are at least 17-19 weeks pregnant. We got in on a free Pegasus study and had perfect Harmony test results. We declined to know the gender. I would never ever do an amniocentesis knowing that my GP has had women mc perfectly healthy babies from doing the genetic testing this way. When there's an option to be prepared for a sick baby or to know without the potential risk of mc-ing a healthy baby simply to find out, it's worth the $700 that it currently costs.

And I don't value the attitude of 'not knowing'. When you sign on to be a parent you are responsible for that baby's needs from day 1 of conception. The system is set up to help parents deal with genetically compromised babies by letting you have this information well in advance. When I hear that people won't do either the genetic test or the nauchal translucency test I feel strongly they are not ready to be parents and already feel sorry for their babies. Really this attitude of sticking head in sand and not knowing is very very rare but it is out there with some people. Being a parent is hard work, you have to be reliable in both good times and bad and you need to do everything in your power to protect your babies, this starts WAYYY before birth. Vaccinations are another hard thing to bear, the needle, the reactions to the medicine for a few days afterward. But eventually the system will crack down on people who love to stick their head in the sand to modern medicine and will have sanctions like forcing the child to stay at home when not vaccinated or like in Aussie removal of any child tax benefits from parents who refuse to do the right thing. Just a side rant but I fee these people are often paddling in the same dingy together lol. I wish you the best with your testing and a happy healthy pregnancy!
Just to give another perspective. We opted to have the nt scan but they couldn't get measurements after 2 separate scans. Baby was in the wrong position. Twice. I was referred for the quadruple test at my 16 week midwife appointment instead but declined it because it only tests for downs syndrome and only gives a risk factor not a diagnosis.

After trying for a baby for 5 years and suffering 3 miscarriages before this pregnancy I would not have an amnio due to the risk of miscarriage and we wouldn't abort if the baby has ds so we felt there was no need to have the test. Had it tested for Edwards and pataus as well as the nt scan does we would have made a different decision. As it is the results would only be back slightly before the 20 week scan which looks at abnormalities anyway and if that shows problems we will look to do the cell free dna test.

Please don't assume based on this decision that I'm not ready to be a parent or that I won't vaccinate (we definitely will).

Mini x



 
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Old Dec 25th, 2016, 20:59 PM   14
breakingdawn
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Well my NT scan and Harmony results came back all extremely low risk for any genetic issues. We did also find out we are having a girl but will of course confirm at the 20 week ultrasound in 6 weeks.



 
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Old Dec 26th, 2016, 01:08 AM   15
2have4kids
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breaking dawn congrats on a great test! Enjoy your pregnancy and bundle of joy

Quote:
Originally Posted by minimoocow View Post
Quote:
Originally Posted by 2have4kids View Post
Oh yes, I was quick to have this done when I found out we had a natural pregnancy while gearing up for our 7th IVF when I was 39. Chances are actually pretty high over 35 of problems happening and I wanted to know WAYYY before it was second tri. They normally do the Nauchal translucency test at the end of first tri between week 12-13 and then *if you get high risk numbers then they refer you to genetic counselling. You wait another 2-4 weeks for your appointment and then another 2 weeks after the test is done. So no matter how sick that baby is if you're positive, there's nothing anyone can do - you are at least 17-19 weeks pregnant. We got in on a free Pegasus study and had perfect Harmony test results. We declined to know the gender. I would never ever do an amniocentesis knowing that my GP has had women mc perfectly healthy babies from doing the genetic testing this way. When there's an option to be prepared for a sick baby or to know without the potential risk of mc-ing a healthy baby simply to find out, it's worth the $700 that it currently costs.

And I don't value the attitude of 'not knowing'. When you sign on to be a parent you are responsible for that baby's needs from day 1 of conception. The system is set up to help parents deal with genetically compromised babies by letting you have this information well in advance. When I hear that people won't do either the genetic test or the nauchal translucency test I feel strongly they are not ready to be parents and already feel sorry for their babies. Really this attitude of sticking head in sand and not knowing is very very rare but it is out there with some people. Being a parent is hard work, you have to be reliable in both good times and bad and you need to do everything in your power to protect your babies, this starts WAYYY before birth. Vaccinations are another hard thing to bear, the needle, the reactions to the medicine for a few days afterward. But eventually the system will crack down on people who love to stick their head in the sand to modern medicine and will have sanctions like forcing the child to stay at home when not vaccinated or like in Aussie removal of any child tax benefits from parents who refuse to do the right thing. Just a side rant but I fee these people are often paddling in the same dingy together lol. I wish you the best with your testing and a happy healthy pregnancy!
Just to give another perspective. We opted to have the nt scan but they couldn't get measurements after 2 separate scans. Baby was in the wrong position. Twice. I was referred for the quadruple test at my 16 week midwife appointment instead but declined it because it only tests for downs syndrome and only gives a risk factor not a diagnosis.

After trying for a baby for 5 years and suffering 3 miscarriages before this pregnancy I would not have an amnio due to the risk of miscarriage and we wouldn't abort if the baby has ds so we felt there was no need to have the test. Had it tested for Edwards and pataus as well as the nt scan does we would have made a different decision. As it is the results would only be back slightly before the 20 week scan which looks at abnormalities anyway and if that shows problems we will look to do the cell free dna test.

Please don't assume based on this decision that I'm not ready to be a parent or that I won't vaccinate (we definitely will).

Mini x
Hi Mini, I'm sorry you had such a long to conceive and so many losses, it's heartbreaking and tough to deal with when you do get a regular pregnancy, I've had a number of horrific losses myself and took 6 years to conceive. The UK does indeed have the Harmony test available at private clinics which tests for many more things than just downs. I agree with you, after the hell we went through to conceive we'd never consider an amnio either. But by refraining to find out about the health of your baby you still wouldn't be prepared had there been complications. We live in a world of options and I don't understand (never will) the choice to abstain from investigating/being prepared for health issues.



 
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Old Apr 2nd, 2017, 06:48 AM   16
WrinklyMummy
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I'm in Australia and had the 10 week bloods combined with my 12 week scan to give me a screen positive for Down's at 1 in 130 risk. I think this is based on my high HCG levels though (so that's another worry as to why they're so high?? Hope placenta function is ok... :-/) as my NT measurement was 1.26mm and a nasal bone was present.

We've just paid $395 for the Generation NIPT and should get the results back by Friday hopefully. I don't know what I'm going to do if it's positive because we couldn't cope with a Down's kid but neither could I cope with killing my baby... :-/



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