newt4545
Registered: 10/18/06
Posts: 1
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Reply with quote | #1 |
Hi,
My wife tests positive for 66 repeats (premutation, normal methylation pattern, whatever that means) on one X, on the other she's 22 repeats. My X contains 20 repeats. We have a daughter on the way, who I understand has a 50/50 chance of inheriting the wifes premutation. We didn't discover any of this until the baby was in the 2nd trimester.We're not opting for amnio or anything and hoping for the best. My question is regarding future pregnancies.
I can google any number of sites that purport to offer IVF-PGD testing that lists Fragile-X as one of the conditions that can be screened. However we left our genetic counselor this afternoon who was of the opinion that PGD was not a viable option for screening Fragile-X (with the explanation in non-specific terms that the "information being tested" would not have formed at that early stage of cell division as may be the case for other conditions that PGD is capable of diagnosing). As a layman I suppose this explanation is as plausible as any other. But I'm wondering at the disparity between the counselor's opinion and the information that google is coughing up for me. In fact I'm not just wondering about it. I'm disturbed by it. Sounds like somebody somewhere is full of it.
Has anyone here been in this position? Was considering options for future pregnancies? Thought about this route? Received mixed messages?
Any info much appreciated.
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dgeis
Registered: 06/11/06
Posts: 3
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Reply with quote | #2 |
Hi There - Yes, PGD can be used to find Fragile X in embryos. You just need to find a fertility Dr that has a relationship with one of the few places that performs PGD - at this years conference there was a representative from a lab in Chicago (I think??) that can complete this testing. Two things to keep in mind - POV is a big problem as well for Premutation carriers. I have a 3 year old (full mutation) and a 1 1/2 year old (not effected), tried to get preganant right after having the 1 1/2 year old and had trouble then a couple months into it found out about my older sons FX and was tested - my repeats are 65 - went to the fertility specialists and they recommended that I do not spend my money on PGD, they felt that they would not be able to get enough good eggs - based on two things (well two things I actually understood) my age - I was 37 at the time and my hormone tests - they were showing that I was quite possibly entering early menopause. Hope that is somewhat helpful - I think your best bet would be to get recommended to a very good fertility Dr!!!! Good Luck - Debbie |
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Leah
Registered: 01/20/06
Posts: 21
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Reply with quote | #3 |
Hi, I just want to point out that your chance is not just of passing your wives premutation on a 50/50 chance. Even though your wives count is low she can still pass full mutation on also. My count is 62 I have passed on full mutation in both of my pregnancies. |
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fx_2006
Registered: 12/27/06
Posts: 2
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Reply with quote | #4 |
just found out that i'm carrier. in order my obgyn to send me to specialist what referral should she give. I want to have PGD done.
in order to have insurance covered(partly) what prcedural, diagnostic code whould i ask for.she is saying she doesn't know.
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RMM
Moderator
Registered: 01/04/06
Posts: 105
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tromanello
Registered: 01/10/07
Posts: 18
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Reply with quote | #6 |
i am a carrier with 74 repeats...i am in the process of going for ivf with pgd...almost every ivf center provides this service , all ivf centers send out all specimens to these three labs...there are only three labs that do embyro biopsy (for fragile x)...one in chicago, one in south america, and one in detroit, michigan...(who i am using)...it is through genesis genetics...the scientist (dr.hughes) is amazing...good luck to you all...tracey |
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cj
Registered: 08/21/09
Posts: 6
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Reply with quote | #7 |
Quote: Originally Posted by tromanelloi am a carrier with 74 repeats...i am in the process of going for ivf with pgd...almost every ivf center provides this service , all ivf centers send out all specimens to these three labs...there are only three labs that do embyro biopsy (for fragile x)...one in chicago, one in south america, and one in detroit, michigan...(who i am using)...it is through genesis genetics...the scientist (dr.hughes) is amazing...good luck to you all...tracey
Hi Tromanello
I am currently in the process of researching PGD and I noticed that you used the IVF center in Detroit. Wondering if you could provide me with some info? Thanks in advance.
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car1130
Registered: 08/29/09
Posts: 5
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Reply with quote | #8 |
hey cj. . . i used an ivf center in new jersey. the scientist that test the embryo biopsy is in detroit, michigan. His name is Dr. Mark Hughes , he works out of Genesis Genetics. . . He worked on the first "test tube baby in england" and developed the embryo biopsy. He is extremely professional and a gentleman. if you care to inbox me i will be gald to share my experience with you
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BHipwell
Registered: 09/26/09
Posts: 4
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Reply with quote | #9 |
Hi,
I am not sure where you are, but our genetics physician, Dr. Jayakar, is at Miami Children's hospital. She has been working with Fragile X for a couple decades and has spoken to us about our options. Also, there are a number of new Fragile X clinics popping up spear headed by Dr. Kravitz from Rush University in Chicago. A new one is opening in Miami and I know there is one in Madison with their goal to get one in most states.
B
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Gifts of love and awareness for friends and families of those with Fragile X. http://www.zazzle.com/FragileX* (a portion of proceeds to benefit the two major Fragile X non-profit organizations) |
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