got bad CVS test results :(

[Guest guest]

Hello everyone. I wanted to update you all on the results of our CVS

(chorionic villus sampling) test we had done last week. I was 11

weeks pregnant when they did the test and I got some bad news. We

did the CVS test to check if the fetus had CF. We knew that if it

did, we would not continue with the pregnancy but we were hoping it

would be fine.

Ironically the bad news has nothing to do with

cystic fibrosis. The fetus, a girl, had 's

Syndrome which is a genetic anomoly, not inherited.

It is a chromosomal condition that exclusively affects

girls and women, 1 in 5000 births. It occurs when one of the two X

chromosomes normally found in females is missing or

incomplete. The most common characteristics of

syndrome include short stature and lack of

ovarian development. A number of other physical

features, such as webbed neck, arms that turn out

slightly at the elbow, and a low hairline in the back

of the head are sometimes seen in syndrome

patients. Individuals with syndrome are also

prone to cardiovascular problems, kidney and thyroid

problems, skeletal disorders such as scoliosis

(curvature of the spine) or dislocated hips, and

hearing and ear disturbances. (this is all from the

website http://www.turner-syndrome-us.org)

Since all my husband and I were asking for was a healthy

child, we decided not to continue with this

pregnancy and we have already started the in-vitro fertilzation

process and will do pre implantation genetic diagnosis to test for

several things including CF. We have not received the CF test results

yetand they aren't due back until June 25 or so but it

doesn't really matter now.

We seem to be targets for rare genetic and chromosomal problems!

Thanks for all your support and encouragement.

--mom to Ashton 2 yrs wcf