Prenatal Genetic Testing

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What is the fundamental reason for doing prenatal genetic testing, since it is known nothing can be done to remove additional chromosomes, or insert missing chromosomes?

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  • Posted

    This is not really an answer to the question. Just wanted to add my experience... 

    We have severe male infertility due to unknown cause (maybe y-chromosome microdeletions -- we don't know yet) and are going ahead with IVF/ICSI. Our doctor told us that there is a chance that a male offspring might also be affected by fertility issues. I wanted to get prenatal genetic testing, but it is illegal where we live (Switzerland). I was even considering going elsewhere for the IVF, but come to think of it, what's the point of such a screening? 

    There is an ethical argument that knowingly passing on a chromosomal problem to an offspring through ICSI is selfish. But then again, wouldn't that consideration even pre-empt a prenatal screening? From what my doctor says, couples grappling with infertility don't really care as long as there is a way, any way, to have a child -- genetics make-up be damned. I don't know if this to the point, but I'd be interested in hearing other sides to the issue.  

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    • Posted

      I didn't know that about Switzerland.  I thought prenatal genetic testing was universial.  

      I've seen videos by Dr David Page  about Y chromosome micro deletions causing male infertility.  It's the DAZ gene, there are several repeats, and all are needed to make sperm.  Obviously the father of the man with DAZ deletions must have been fertile, have no deletions.  Therefore, yet again, perfectly healthy individuals make infertile offspring.   We know the DAZ deletions are there, I just don't know how they come about?

      As prenatal genetic testing isn't allowed, is preconception genetic testing?   So a couple using ICSI when the mans sperm is known to have Y chromosome micro deletions, can weed out the male fertilised eggs, and only proceed with the female fertilised eggs, thus preventing the defect from being passed on.  I say that was a beneficial pre conception reason for a genetic test.

      I actually asked the same question on a video by AXYS Official on YouTube, where a Genetic Counselor was giving a talk, then asked the audience if they had any questions, and my question, (which is just so obvious from my perspective), never came up.

      I think there's only 1 reason for doing prenatal genetic testing.  The answer is dog balls obvious!

         

       

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  • Posted

    I have given birth to 4 children. I opted out of any genetic testing with my first two kids, but as I got older, my doc recommended genetic testing.

    With #3, I had several panels of blood tests during my pregnancy... and each time, I'd get a phone call and different percentages of possible problems. And each time, it changed. It was super stressful and caused a lot of unnecessary worrying!

    With my youngest, #4, I decided to skip the series of testing and just get one comprehensive test-- the Harmony test. It is a one-time blood draw from the mother. Completely non-invasive. No risk to the baby. The lab can separate the mother's blood and baby's blood and test the blood for abnormalities, like Trisomy 21, 18, 13... and it can determine gender! Results are pretty accurate. Really, it's pretty amazing that it can be done!

    Around 11 weeks, I had the blood test. And even though we could already tell the baby was a boy in a very early sonogram, I went ahead and checked the box to test for gender. (I think it was an extra $20.)

    When my results were in, a nurse called with lots of good news ... but then said there were abnormalities when testing for gender. Honestly, I'd never heard of anything about XXY chromosomes. It was sort of a fluke that they discovered it-- just a checked box. But I'm really glad we know so I can help him in any way possible.

    I suppose there are different reasons people get genetic prenatal testing done. For me, I was thrilled that there was a non-invasive option, and I was happy to skip the series of blood tests and worry. But mostly, I just wanted to know as much about my baby as I could. Knowledge is power.

    I realize that some women use genetic testing to determine if they'll terminate the pregnancy. But not me; I would never consider abortion. I just wanted to be as prepared as I could be to welcome a little one into our family.

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    • Posted

      Well, if I knew then, (when I was a foetus), what what I know now, I'd have opted for abortion.  Nobody deserves a mother like mine was.  It's such a shame the foetus never gets the option, some parents would be surprised I'm sure!

      What else didn't come up with the talk of the Genetic Counselor was when she metioned "It's not your fault"   to the parents.  It is a curious idea that parents are absolved of all wrong doing when XXY boys and young men are studied.  The fact of the matter is parents are generally not trained to be parents, they learn literally by accident.

      Dr Johannes Nielsen (Denmark) identified problematic parents as being the route cause of the XXY boys who had difficulty, but I never see that kind of reporting from  other researchers.  It's so easy to blame the person with the aneuploidy, rather than the situation that person is in, or the parents of that person.  

      It's only not a blame game for the parents.  

      I'm sure the world would be so much better off if I wasn't here.  If I had the choice, I'd have elected termination.      

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  • Posted

    Sorry, I just gave some wrong info. It is not Prenatal genetic testing. It is preconception genetic testing that is not allowed by Swiss law. 

     

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    • Posted

      Ohhhhhh, really, well that does pose new thinking processes..... that would be the most optimum time to do it IMO.  I wonder what the opposition is, do you know?

      Is it the "can't have designer babies" argument?   Choosing not to have boys or girls?  

       

       

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    • Posted

      It's strange, if the foetus is XXY that's not a problem tio abort, if X0 not a problem, if XYY not a problem.  But if the foetus is XX and XY is wanted, well they can't have that, that's choosing beyond the realm of reason.  Am I wrong?

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    • Posted

      Ah it is quite complicated and I'm not sure I understand fully. The Swiss voted last year to lift the ban on preimplantation genetic diagnosis. While the vote was in favour, there is another referendem later this year to reassess that vote. I guess pro-life groups have quite some traction here. 

      And sex-selective implantation is a huge no-no here. I remember asking my doctor if it was possible to select female embroys to avoid the chance of a boy inheriting his father's fertility issues, and she looked at me like I was from another planet.

      Because Arificial Insemination is so restrictive, I know some couples who have travelled to Germany to get it done. 

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    • Posted

      It will be much easier for Europeans to travel to other countries for AIS than it would for people on island nations, so once country can be as draconian as it likes and have no impact at all.  

      I think pre implantation genetic testing is a better time to do it, better than doing it after implantation.  If the father knows he is infertile because of DAZ gene deletions, it would be cruel to have a son knowing he too will have the same gene deletions.  He can only be fertile in the lab.  What if the son can't afford it?

      The idea that a person can only be a parents if the population has voted in his favour seems quite wrong to me.  Politicians and preachers need to keep their opinions out of other peoples buisiness.

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  • Posted

    Hi G

    In reply to your original question,the reason mother's are tested is to either offer them the opportunity to abort (85% of expectant mothers chose to abort an XXY fetus) or if they are wealthy enough with good insurance,to have thee child and subject it to exogenous testosterone prenatally and again at 4 months,6 years and ten or eleven.Which is all well and good for the parent but completely ignores the rights of the child, 

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    • Posted

      Again, I can't believe this forum is so heavily moderated,why on earth can't you notify the poster of the intent to delete,or better still,tell us what we are doing wrong,this present deleting everything that doesn't agree with your viewpoint is beyond me,and reason enough for me to leave your forum.

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    • Posted

      Yeah it's weird, I can't remember your original message, or even if i read it? biggrin  

      I've had mesages deleted, I have no idea why.  Sometimes they get deleted months after they were posted, I think?   But if you want the Moderator to read something, put an email address or link to somewhere else in it.  At least you'll know you're being heard.

       

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  • Posted

    The main reason of prenatal genetic testing is only to confirm any abnormality or mutation in genes through the processes such as Amniocentesis and CVS ; nothing more than this. But, you can know about your baby's health which makes genetic testing more valuable.

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