[ Post a Response | Trisomy 22 and Misc. 22 Interest Board ]
Posted by Stacy Hyatt --Stacy --Previous Message--
on 3/16/2005, 8:54 am, in reply to "Re: Extra 22nd Chromosome"
208.27.111.123
Hi Joseph,
I have a question-- I just had a miscarriage 2 weeks ago and got the results of the chromosomal analysis last night-- 47XX, +22. The Dr. said it was a complete trisomy 22 that was not hereditary. The pregnancy before that ended due to a blighted ovum. I also have two healthy boys ages 6 and 2 (I am 34 yrs old.). Why do you think my Dr. has encouraged me to seek genetic counseling? I am capable of having healthy children. Isn't what happened with this last pregnancy supposed to happen? Meaning if there is something wrong with the baby, my body recognized that fact and took care of it. If trisomy 22 is not likely to recur, what could the Genetics Counseling possibly do for future pregnancies? Or is the problem that once I have had a chromosomal problem with a pregnancy that it is more likely to occur again even if it is not trisomy 22? My regular OB/GYN said that this is just two flukes of bad luck in a row and that it has no bearing on my ability to have a healthy child next time. Another OB in the practice that called with the results of this test was the one who pushed the genetic counseling and seemed to think it was a necessary next step. I don't want to jump head long into invasive testing if there is nothing they can do to prevent chromosomal abnormalities in future pregnancies.
: Most embryos with full trisomy 22 do not
: survive, but there is a small number
: of reports of complete trisomy 22 in
: the newborns. Usually such children
: have very serious defects. There is no
: treatment except treatment for
: symptoms (for example, heart surgery
: for heart defects, etc.).
:
: From the genetic point of view trsiomy
: 22 may be basically in two forms: free
: trisomy 22 (karyotype 47,XX,+22 or
: 47,XY,+22) or trsiomy 22 as a result
: of translocation.
: If embryo or fetus has free trisomy
: 22, it is a new mutation practically
: with 0 risk of recurrence. If trisomy
: 22 is caused by translocation, risk
: will depend on the karyotype of the
: parents. Because you use term
: "trisomy 22" without
: cytogenetic formula, I can't give
: precise conclusion for the families
: who participate in this discussion.
: You can contact me personally, if you
: want.
:
: Best wishes
:
: Joseph
:
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