+ Reply to Thread
Results 1 to 7 of 7
  1. #1
    Join Date
    Aug 2019
    Posts
    48
    Thanks
    39
    Thanked
    27
    Reviews
    0

    Default Mosaic embryo has resulted in pregnancy, now to do CVS or amnio testing?

    I’m nearly 7 weeks pregnant after transferring a mosaic embryo (monosomy chromosome 4 on some chromosomes - not all). We will do a Percept test but have also been advised I may need CVS or amniocentesis diagnostic testing. Has anyone else had experience with this? Which testing was recommended to you? I’m 42 years old.

  2. #2
    Join Date
    Oct 2015
    Posts
    4,274
    Thanks
    4,207
    Thanked
    3,769
    Reviews
    0
    Achievements:Topaz Star - 500 postsAmber Star - 2,000 posts
    I haven't been in your exact position, but do have a daughter with a mosaic chromosomal disorder.

    Personally I would go for the amnio over the CVS. Reason being (well with my daughter's condition anyway) it is possible the mosaicism can be confined to the placenta only. Rare but it can happen - google "Confined placental mosaicism" for more information. The way it was explained to me is that an error can occur sometime after the first cell division, so on say the fourth cell division. There are two cell lines present, often the best cells go on to form the baby, some form the placenta and some die off.

    What this means is the CVS will show you the genetic makeup of the placenta while an amnio will show the genetic makeup of the baby. For that reason, I would go for the amnio.

    In my daughter's case I didn't have any testing. Her placenta was tested after birth and 100% of the cells tested cam back positive for the condition. The condition is incompatible with life, so for her to be alive she is either a low level mosaic or doesn't even have the condition. Her blood and skin tests came back negative, however she has some dysmporphic features and the paed believes she has low level mosaicism.

    Having said that, my thoughts are based on the specific condition my daughter has and you would be best to be guided by your care givers.
    Last edited by SSecret Squirrel; 16-11-2019 at 18:11.

  3. The Following User Says Thank You to SSecret Squirrel For This Useful Post:

    sathwa (17-11-2019)

  4. #3
    Join Date
    Sep 2013
    Posts
    2,261
    Thanks
    2,253
    Thanked
    1,533
    Reviews
    0
    Achievements:Topaz Star - 500 postsAmber Star - 2,000 posts
    I had an amnio for the reasons listed above (cvs vs amnio).
    One thing to consider is the timing- the amnio is done later- I had mine at about 18w from memory. So if you decide you will take action based on the amnio, this may affect the choices you are able to make.
    I went with the amnio as I wanted to be sure it was the baby, not the placenta we were testing

  5. The Following User Says Thank You to SJ565 For This Useful Post:

    sathwa (17-11-2019)

  6. #4
    Join Date
    Aug 2019
    Posts
    48
    Thanks
    39
    Thanked
    27
    Reviews
    0
    Quote Originally Posted by SSecret Squirrel View Post
    I haven't been in your exact position, but do have a daughter with a mosaic chromosomal disorder.

    Personally I would go for the amnio over the CVS. Reason being (well with my daughter's condition anyway) it is possible the mosaicism can be confined to the placenta only. Rare but it can happen - google "Confined placental mosaicism" for more information. The way it was explained to me is that an error can occur sometime after the first cell division, so on say the fourth cell division. There are two cell lines present, often the best cells go on to form the baby, some form the placenta and some die off.

    What this means is the CVS will show you the genetic makeup of the placenta while an amnio will show the genetic makeup of the baby. For that reason, I would go for the amnio.

    In my daughter's case I didn't have any testing. Her placenta was tested after birth and 100% of the cells tested cam back positive for the condition. The condition is incompatible with life, so for her to be alive she is either a low level mosaic or doesn't even have the condition. Her blood and skin tests came back negative, however she has some dysmporphic features and the paed believes she has low level mosaicism.

    Having said that, my thoughts are based on the specific condition my daughter has and you would be best to be guided by your care givers.
    Thanks for your advice. Wow that must have been quite stressful in the early days of motherhood. I looked up confined placental mosaicism and realise this is something our fertility specialist advised could happen with a resulting mosaic embryo pregnancy. It’s a worry but we will get all the testing that we need. The amnio sounds like best practise I just worry about the timing of it being so far into the pregnancy if we have to make a tough decision.

  7. The Following User Says Thank You to sathwa For This Useful Post:

    SSecret Squirrel (17-11-2019)

  8. #5
    Join Date
    Oct 2015
    Posts
    4,274
    Thanks
    4,207
    Thanked
    3,769
    Reviews
    0
    Achievements:Topaz Star - 500 postsAmber Star - 2,000 posts
    Quote Originally Posted by sathwa View Post
    Thanks for your advice. Wow that must have been quite stressful in the early days of motherhood. I looked up confined placental mosaicism and realise this is something our fertility specialist advised could happen with a resulting mosaic embryo pregnancy. It’s a worry but we will get all the testing that we need. The amnio sounds like best practise I just worry about the timing of it being so far into the pregnancy if we have to make a tough decision.
    Yeah the timing of the amnio is the biggest worry. I didn't find out I had issues with the pregnancy until around the 21/22 week mark. For lots of personal reasons decided against the amnio, although in hindsight it would have been helpful.

  9. #6
    Join Date
    Aug 2019
    Posts
    48
    Thanks
    39
    Thanked
    27
    Reviews
    0
    Quote Originally Posted by SJ565 View Post
    I had an amnio for the reasons listed above (cvs vs amnio).
    One thing to consider is the timing- the amnio is done later- I had mine at about 18w from memory. So if you decide you will take action based on the amnio, this may affect the choices you are able to make.
    I went with the amnio as I wanted to be sure it was the baby, not the placenta we were testing
    Thank you. I agree on the amnio but that’s the very worry I have. The timing is quite far into the pregnancy to get a definitive result, and I worry about the psychological impact of that. Did you have a Percept or NIPT test first that flagged a condition that then required the amnio? I feel for you having to go through that xx

  10. #7
    Join Date
    Sep 2013
    Posts
    2,261
    Thanks
    2,253
    Thanked
    1,533
    Reviews
    0
    Achievements:Topaz Star - 500 postsAmber Star - 2,000 posts
    Quote Originally Posted by sathwa View Post
    Thank you. I agree on the amnio but that’s the very worry I have. The timing is quite far into the pregnancy to get a definitive result, and I worry about the psychological impact of that. Did you have a Percept or NIPT test first that flagged a condition that then required the amnio? I feel for you having to go through that xx
    Yes, the NIPT came up with an 80% chance. It was a day 3 embryo, so we hadnt done pgt/pgs.
    Would the condition affecting your embryo be shown via NIPT?
    With the amnio, you can pay extra for FISH results in 24-48h, or wait for the more accurate results about a week or two later. I'm in melbourne, so our times were a little quicker (no transport delays).
    In the end we decided to do the amnio to make sure it was "just" the Trisomy shown on NIPT. Because that Trisomy we could manage, but if it was that Trisomy plus something else, then that would change things.
    It was a horrible decision to be faced with, and to have to wait to amnio time is also horrid. Everyone else is excitedly discussing nursery furniture and gender, and meanwhile you're thinking about catastrophic issues, maybe having to terminate, or perhaps a life for you and your child that you never imagined. It is very lonely. I hope you have friends and family around that you can talk to x


 

Similar Threads

  1. One grommet has fallen out - what now...
    By Opaque in forum General Child Health Issues
    Replies: 3
    Last Post: 24-02-2009, 19:48
  2. Replies: 20
    Last Post: 02-10-2008, 12:57
  3. Symptoms which resulted in Pregnancy
    By mummy22boys in forum Conception issues & ttc
    Replies: 0
    Last Post: 08-12-2007, 20:15
  4. Graco Mosaic Stroller - has anyone used one?
    By Cheeky Little Monkey in forum Product Recommendations & Questions
    Replies: 2
    Last Post: 01-07-2006, 11:22

Posting Permissions

  • You may not post new threads
  • You may not post replies
  • You may not post attachments
  • You may not edit your posts

ADVERTISEMENT

ADVERTISEMENT

FEATURED SUPPORTER
Glowing ExpectationsA one stop shop, 40 week, online pregnancy fitness and wellbeing program - recommended by Doctors. Convenient, ...
FORUMS - chatting now ...
Clexane - when did you stop?Conception & Fertility General Chat
Horrible Baby Names #3Choosing Baby Names
Tonight we're smashing into...#4Recipes & Lunchbox Ideas
Our baby making journeypregnancy and babies through IVF
Show me your sewing! #3Crafts and Hobbies
Naughty November TTC 2019Conception & Fertility General Chat
Are you the ‘new wife’ and TTC?Issues with Family Members