QuestionDear Dr.Ramirez, Thank you very much for your reply on 23/8/2010. By chromosomal analysis means do you mean Karyotyping (this was also a blood test)?
If yes, me and my husband have done this and the report is normal sex chromosomes. And we also did a 22q deletion
to identify for heart defects which showed normal signal pattern. (If you can provide me with your email ID i can send my reports for your expert review)
As you have said, if we can find out atleast the gamete which has the abnormal gene then we can have some clue to proceed further.
Kindly help.
Kind regards,
Sasi
AnswerHello Sasikala from the U.A.E.,
Yes, by chromosomal analysis I mean karyotyping. It will check more than sex chromosomes. It should check for all chromosomes, including the sex chromosomes(46 total).
There are other genetic tests that can be done (again blood tests), but these would need to be ordered specifically. In that case, it would be best to consult a genetic counselor. These are known as single gene disorders such as Tay sacs, Muscular dystrophy, etc.
My email is ejrmd@montereybayivf.com.
Good Luck,
Edward J. Ramirez, M.D., FACOG
Executive Medical Director
The Fertility and Gynecology Center
Monterey Bay IVF Program
www.montereybayivf.com
Monterey, California, U.S.A.
for additional information check out my blog at http://womenshealthandfertility.blogspot.com check me out on twitter with me at @montereybayivf
