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Reciprocal Balanced Translocation Between Chromosomes 4 and 5

bt balanced translocation genetics miscarriage ttc

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#1 MrsChampagne

MrsChampagne
  • Just Hatched
  • 1 posts
  • Dx:Genetic
  • My Clinic:Newlife Fertility Clinic

Posted 21 August 2015 - 01:45 PM

I am a 29 year old female trying to conceive with my 31 year old husband.  I am 100% healthy and all 'parts' are perfect.  We have had no issue getting pregnant but unfortunately both pregnancies ended in miscarriage.  I was recently diagnosed with a Reciprocal Balanced Translocation Between chromosomes 4 and 5 (4;5) (q35.1;q11.1).

 

Since the diagnosis I have been trolling the internet for my specific translocation and have literally found NOTHING (maybe 2 other ppl with 4;5).  This is extremely concerning to me and we will not see a genetic counselor for 6-8 months.  The waiting game is agonizing.  We would like to keep trying naturally (although the losses are devastating), IVF with PGD seems like such a gamble money and success wise.  I am just not sure if it is smart to try before knowing how affected I really am?

 

Any information about this specific translocation or my odds of having a pregnancy naturally would be appreciated.  Also would being B- blood type be any concern?

 

Thank you!



#2 Dr. Dan Nayot

Dr. Dan Nayot
  • Physician
  • 123 posts
  • Gender:Male
  • Location:Toronto
  • Dx:N/A
  • My Clinic:www.tcart.ca

Posted 23 August 2015 - 10:53 AM

Hi MrsChampagne,

 

I would agree that seeing a genetics counselor is of top priority for more detailed information about your specific translocation and the fertility options available to you. Not all translocations are of "clinical significance", as in it may have no real impact. However if you are experiencing recurrent pregnancy losses, then I do believe that PGD for embryo selection would be of benefit. 

 

Although I don't generally recommend a specific clinic / MD/  etc, if you are feeling anxious about the long waiting time for your appointment there are other options available (

 

Best of luck,

 

-D. Nayot


DAN NAYOT MD, MSc, FRCS©
REPRODUCTIVE ENDOCRINOLOGY & INFERTILITY SPECIALIST - TCART FERTILITY PARTNERS 
EXECUTIVE BOARD MEMBER  - Infertility Awareness Association of Canada (IAAC) 
Twitter: @DrDanNayot
 
 





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