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Forum: Genetic Issues

This board is open to all members who face a genetic issue whether they be trying to conceive, during pregnancy or parenting. Topics discussed on this board will include: preimplantation gentic diagnosis, prenatal testing (chorionic villus sampling a

  1. Sticky Thread Sticky: MTHFR questions

    I have had 2 miscarriages this year and found out late last week I have MTHFR. I tested positive for A1298C (2 copies) but I didn't have C677T. I was so thrown off when the nurse told me I just don't think I understand what all this means. I know I need to take folic acid but does the presence...

    Started by labbie123, 09-04-2005 04:28 PM
    18 Pages
    1 2 3 4 5 ... 18
    • Replies: 176
    • Views: 43,899
    01-13-2012 06:24 PM Go to last post
  1. DH Balanced Robertsonian Translocation 13/14 and Me, low amh, looking for hope

    Hi, this is my first ever post. I'm looking for hope because I'm feeling so alone. DH has a balanced translocation and our first IVF with ICSI failed. We didn't even have enough embryos to send off for PGD. RE recommended just transferring the 2 that were still growing by Day 3, but no luck. ...

    Started by carly7, 03-12-2012 08:49 AM
    • Replies: 8
    • Views: 502
    05-08-2012 10:08 AM Go to last post
  2. Companies that can send embryologists to your lab

    My lab does not do day 5 PGD. They said the only way I could have it done is to have an embryologist come to the lab to do it. I know that Reprogenetics can do this. Does anyone know of any other companies or how much it might cost?

    Started by jkph, 05-07-2012 05:36 PM
    • Replies: 0
    • Views: 111
    05-07-2012 05:36 PM Go to last post
  3. PGD/PGS labs and insurance

    We're carriers of a single-gene (recessive) disorder and are looking at doing IVF with PGD or PGS. Does anyone know what the best labs are for PGD/PGS? Would Reprogenetics, Genesis Genetics and RGI in Chicago be on that list? Are there others we should look at? Our insurance (BCBS) covers PGD in...

    Started by wantingno2, 04-09-2012 07:49 PM
    • Replies: 8
    • Views: 347
    05-05-2012 09:59 AM Go to last post
  4. PGD/PGS at Cornell (CCRM)?

    Hi: I was wondering if anyone had ever done any genetic testing at cornell? i don't live near by but heard they do this well. would be interested in hearing about anyone's experiences there. thanks!

    Started by pemmie, 01-31-2010 10:49 PM
    2 Pages
    1 2
    • Replies: 11
    • Views: 2,115
    04-11-2012 05:57 PM Go to last post
  5. Trisomy 18

    Here is my story. I just had an D&C after blighted ovum. My RE told me to have genetic test after D&C. The test showed that is was a baby girl with Trisomy 18 and that's the reason the baby stopped developing. I had another blighted ovum 6 month ago. But we didn't make genetic test. My RE was...

    Started by bgk, 03-14-2012 10:16 PM
    • Replies: 3
    • Views: 367
    03-16-2012 01:03 PM Go to last post
  6. Why Male Karyotype?

    Hi ALL, maybe you can help me, My new RE is suggesting a karyotype on my husband who has a perfectly normal (and usually quite high- 100 mil) sperm count!? I am confused. Wouldn't they want to look at me???? ___________________________________________________________ Me- AGE 32; I have...

    Started by skylinds79, 02-16-2012 05:20 PM
    • Replies: 1
    • Views: 373
    02-16-2012 05:47 PM Go to last post
  7. MTHFR and Factor V Lieden

    I hope this is the correct place as I am a newbie and not quite sure. Hubby and I had our son 12 years ago followed by years of losses and then our daughter and then 2 more losses. I found out before having my daughter I have MTHFR (cmpd hetero) and Factor V (hetero). Hubs has FVL as well (and...

    Started by Gagenivy, 02-13-2012 12:43 PM
    • Replies: 1
    • Views: 284
    02-13-2012 12:46 PM Go to last post
  8. Exclamation Mosaic Turners Syndrome (( young girl ))

    Hello my names Dizzy ^ ^ Im currently 12 years old I turned it on november 28th! during a test at the doctors they "accidently" found out I had a deteriorated X chromosome and that I wont ever be able to have babies. I had noticed I was small for my age... I hadnt gotten my period when all my...

    Started by DizzyCrash, 02-06-2012 12:50 AM
    mosaic turners syndrome
    • Replies: 1
    • Views: 455
    02-07-2012 01:45 PM Go to last post
  9. Question 1st IVF produced all embryos with chomosomal abnormalities - looking for answers

    Hi, I am 36 and have had 3 early miscarriages. I have had all of the usual tests run on me and everything is normal. FSH is around 6 or 7. I just had my 1st round of IVF w/ array cgh. They got 12 mature eggs, 11 fertilized, 7 made it to day 3 for genetic testing. I had no problems with...

    Started by jkph, 01-12-2012 01:01 PM
    2 Pages
    1 2
    • Replies: 11
    • Views: 1,025
    01-29-2012 11:07 PM Go to last post
  10. Next pregnancy after the first one being Trisomy 21..

    Hello All, I lost my DD to Trisomy 21 at 21 weeks. Please read my brief history in the link: http://www.fertilethoughts.com/forums/immune-issues/712404-what-could-have-been-reason-stillbirth-any-inputs.html#post7608446 My RE seem to think this was a freak accident and will not happen again...

    Started by diamommy, 01-03-2012 04:04 AM
    low papp-a, pgd, stillbirth, trisomy, trisomy 21
    • Replies: 7
    • Views: 674
    01-25-2012 06:05 PM Go to last post
  11. balanced translocation with rearrangement 10 and 11

    Hi there has anyone any experience of rearrangement of chromosomes 10 and 11. Just found i have this after 3 miscarriages and now waiting to see a genetic counsellor. Any info would be appreciated and has anyone managed to have a successfull pregnancy or not? need to know as wait list is 4\5 months...

    Started by Jaxmarch1980, 12-06-2011 10:37 AM
    • Replies: 8
    • Views: 787
    01-22-2012 05:22 AM Go to last post
  12. balanced translocation

    Hi there has anyone any experience of rearrangement of chromosomes 10 and 11. Just found i have this after 3 miscarriages and now waiting to see a genetic counsellor. Any info would be appreciated and has anyone managed to have a successfull pregnancy or not? need to know as wait list is 4\5 months...

    Started by Jaxmarch1980, 12-06-2011 10:25 AM
    • Replies: 2
    • Views: 419
    01-18-2012 01:33 PM Go to last post
  13. C677T and A1298C Mutation just Detected in my 12 yr old...Please Help me understand

    Hello to all My name is Tara and I am the mother of a 12 year daughter named Kennedy. I just found out today that she had tested positive for both the C677T and A1298C Mutation. She is away at camp untill the 20th and will undergo more testing upon her return. Me, her father and her maternal...

    Started by Kennedy, 07-08-2009 11:16 PM
    • Replies: 6
    • Views: 3,698
    01-06-2012 02:18 PM Go to last post
  14. 4mg Folate

    Where on this earth can I buy 4mg of folate? I have only found 8mcg as the highest dosage. Is that as high as they make it? I am supposed to take 4mg daily. If I have to take 8mcg pills, is it best to space them out through the day or take them all at once? Thanks!

    Started by IlovemyHusband, 12-14-2011 06:30 AM
    • Replies: 2
    • Views: 461
    12-27-2011 09:23 PM Go to last post
  15. Fragile x pre-mutation

    I have recently been diagnosed with being a Fragile x pre-mutation carrier, my repeat size is 58. i have a very low AMH of 0.7 and am starting IVF in the next two months. I have been warned of the 30% chance of POI/POF that comes with being a carrier and am aware that this could happen to me. Has...

    Started by owen, 04-11-2009 11:01 AM
    2 Pages
    1 2
    • Replies: 13
    • Views: 3,371
    12-19-2011 04:08 PM Go to last post
  16. Recently Diagnosed..Homozygous C677T hyperhomocysteinemia

    Hi, I've just been diagnosed this past month. After two miscarriages one at 17 weeks and one at 12 weeks. I asked my OB if he would order the test for MTHFR. Thankfully he agreed. When I tested positive, he referred me to a peri. The nurse gave me my test results mentioned...

    Started by crmercer, 12-12-2011 07:05 AM
    • Replies: 1
    • Views: 357
    12-19-2011 04:03 PM Go to last post
  17. New Diagnosis

    I was diagnosed with improper metabolization of folate and with I guess it's MTHFR (small blood clots, having to take baby aspirin), three and a half weeks ago. We had one IVF cycle which started this time last year. I responded well to the stims. We ended up with ten out of twenty being...

    Started by IlovemyHusband, 12-09-2011 10:10 AM
    • Replies: 2
    • Views: 555
    12-12-2011 03:47 PM Go to last post
  18. Has anyones dr recommended taken steroids?

    Im scheduled for an FET in a few days. Ive had two m/c one after a natural pg and one after a PGD. I have a genetic issue My dr wants to put me on steroids during my first trimester. He thinks it will create the most optimal environment for the embryos. Weve only had one ivf cycle. I was...

    Started by rtk, 07-09-2011 05:22 PM
    • Replies: 6
    • Views: 1,450
    12-10-2011 02:12 PM Go to last post
  19. 3 failed IVF/PGD cycles

    I'm 36 and was lucky enough to have a child without any fertility in 2008. Since then I've had multiple miscarriages and found out i have a balanced translocation. I've completed 3 cycles of IVF (follistim/gannilrelix/menopur) with PGD and haven't gotten any good eggs yet to make it to transfer....

    Started by westview, 10-11-2011 07:56 AM
    • Replies: 5
    • Views: 1,132
    12-05-2011 02:43 AM Go to last post
  20. Compound heterozygous MTHFR A & C mutations

    Is there anyone on here with the above mutations who had trouble conceiving, not just carrying to term? I see that Dr. Beer believes that MTHFR can prevent implantation, but that's not accepted by mainstream scientists. I was just wondering if anyone else has found that to be the case with them --...

    Started by BC-Impatient_in_VA, 09-08-2011 11:21 AM
    • Replies: 4
    • Views: 1,446
    12-03-2011 10:28 AM Go to last post
  21. Inversion in chromosome 11

    Hi, This is my first time posting. I'm a 29 yr old female and have been trying to conceive for 1 and a half yrs with 2 failed pregnancies. Just found out that I have an inversion on chromosome 11 :(....I don't know what to do? I don't even know where to start my research on IVF with PGD...please...

    Started by scarlett01, 11-29-2011 04:26 PM
    • Replies: 4
    • Views: 1,068
    12-01-2011 02:00 PM Go to last post
  22. Post your MTHFR success stories

    After recently being diagnosed with a c677t disorder, I am anxious to hear your MTHFR success stories.

    Started by WrightStepher, 10-13-2011 08:47 PM
    2 Pages
    1 2
    • Replies: 13
    • Views: 1,547
    11-03-2011 12:33 PM Go to last post
  23. Genesis Genetics for PGD

    Ladies, I have a single gene disorder and will need PGD to ensure it is not passed along. Has anyone used Genesis Genetics for PGD - most clinics in my area use this lab? What about Reprogenetics? I would love to hear your experiences.. Thanks!

    Started by RJGirl, 06-08-2010 04:29 PM
    2 Pages
    1 2
    • Replies: 10
    • Views: 2,476
    11-01-2011 01:30 PM Go to last post
  24. MTHFR questions

    Hi Ladies, I am trying to find out some additional info on MTHFR. I just found out that I tested positive for it. My RE did not tell me what mutation I tested positive for only that I have a +MTHFR and it is in the presence of normal Homocysteine levels and all clotting levels, proteins, etc...

    Started by scarlet0906, 01-29-2011 07:36 PM
    2 Pages
    1 2
    • Replies: 15
    • Views: 2,696
    06-09-2011 11:02 PM Go to last post
  25. does anyone know chance of m/c with cgh normal embryos?

    Hi, I was wondering if anyone knows what the odds of having a m/c with a cgh 'normal' tested embryo are? I have had multiple m/c but recently did ivf with cgh testing and got 3 normals. I transfered one and got bfp but am very nervous of another m/c. I know there is a 5-10% chance of mocaisism...

    Started by deuxbisoux, 03-08-2011 04:40 PM
    • Replies: 4
    • Views: 1,571
    05-29-2011 03:05 AM Go to last post

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