Chromosomal defects that aren't serious?

[readynwilling]

Hi,

I had my 22 week drs appt today. They covered the report from my ultrasounds.

My first ultrasound showed a possible chromosomal abnormality... so thats why they sent me for the 2nd one.

The Dr said that with this abnomality there is a 1 in 200 chance of the baby being born with a facial defect.

At the second ultrasound, the tech said every thing looked normal and he was able to define all the parts of the face. But the dr said there is still a chance and if i wanted she would send me for an amnio.

So, of course, im looking online at choromosmal defects - and i can't find anything that says that there is a defect which only causes possible facial deformity. So now im a little worried that the dr didn't give me all the info.

Has anyone else heard of this?

 

[Caezzybe]

Sorry, I don't know of anything that specifically causes only a facial problem where chromosomes are concerned. It's probably best to ask your doctor what the suspicions are, it sounds like you have not been given all the facts.

I hope that whatever the suspicions are that they are unfounded.

Big hugs xxx

 

[S_a_m_m_y]

Have you had your blood work analyzed to see if you carry any choromosome abnormalities that could be passed down? thats how I found out, then went forward with the amnio but I had a 1 in 2 chance (50-50) of passing it down to baby

 

[Lottie86]

I hope the amnio results come back clear for you if you go ahead with it.

 

[readynwilling]

I refused the 12 week testing because it wouldn't make a difference to us... so i am not going to take the amnio now. I love my daugther no matter what happens. I was pretty upset yesterday, but feel much more confident today

 

[BrandiCanucks]

Through all the genetic testing my daughter has been through, I've never heard of a chromosomal abnormality that only causes a facial defect. She has been tested for Fragile X, had microarray testing done, and a multitude of other tests and we still have not been able to find out what her condition is. We're looking now at RNA Sequencing, which tests the other part of the chromosome since DNA has revealed only a chromosome translocation. However, it costs $17 000 and so far, OHIP refuses to cover it.
Either way, I want to offer my support, if anything chromosomal does happen. I don't live too far from you.

Good luck and I hope your daughter is healthy!