July 23, 2010

Our Genetic Testing Results are in...

A Very Busy June...
June and July have been quite busy months for myself and Mr. Blessed Bud. In June we made preparations to move into a new house and we underwent Genetic Testing to see if a genetic defect is the cause of our miscarriages. We had blood drawn for the Male and Female Karotyping Tests. This test also known as a Chromosome Analysis looks at the structure, number and arrangement of all 46 pairs of chromosomes. This test looks mainly for something known as a Balanced Translocation, which causes recurrent miscarriages.

What are Balanced Translocations???
A chromosomal translocation is a condition in which part of a chromosome has broken off and reattached in another location. In a balanced translocation, a person usually has all the genetic material necessary for normal growth -- a piece of a chromosome is merely broken off and attached to another one. However, when that person's cells divide to create egg or sperm cells for reproduction, the egg or sperm cells can end up with extra genetic material or missing genetic material, which could lead to miscarriage depending on which chromosome and genes are affected. Balanced translocation is diagnosed through a test called a karotype in which blood samples from both parents are analyzed looking for the translocation. Some research suggests balanced translocation in the mother is most likely to be associated with recurrent miscarriages, but fathers can be carriers as well.

Treatment for Balanced Translocations
There are no cures for Balanced Translocations, and these are the options for those TTC:

A. Keep going on your own and the odds are in favor of a successful pregnancy eventually, you will most likely experience more miscarriages
C. Donor Egg or Donor Sperm, or Donor Embryos depending if one or both partners have the Translocation

Our Test Results and What's Next?
Both of our Test Results came back NORMAL! It's kind of annoying because there is absolutely no explanation as to why I am miscarrying. We have a consult with Dr. B this Thursday to discuss our upcoming FET in August and what changes he will make to our protocol. I know one change he is making is to switch me from Crinone to PIO so he can monitor my Progesterone levels closely. For my first 2 pregnancies/miscarriages (one natural and one with TI and injectables under a different RE) I had no Progesterone support. My third miscarriage a c/p I was on vaginal suppositories and for this most recent FET/miscarriage I was on Crinone. I will have an UPDATE on Thursday from my consult and in the meantime we are still busy settling into our new place, which we absolutely adore.

Have a Great Weekend,


Anonymous said...


Ms. Understood said...

Congrats on your new place. I'm sorry you still haven't gotten any answers on the miscarriages. I hope you get some soon.

Sarcastic Bud said...

I'm so glad to hear your test results came back without a problem!

Mr. SB and I are currently being tested for this as well, and your post gave me positive thoughts....I appreciate that.

I hope that you get answers soon.

Silver Rose said...

Good to hear that test results came back normal, even if it didn't answer all your questions. I hope you get some positive news soon!


Bloomin' Babies Copyright 2010 All Rights Reserved Bloomin' Babies Designed by Kate M. Gilbert