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View Full Version : I'm getting a chromosome analysis...



Tonya
09-23-2004, 10:51 PM
I got a phone call from a geneticist a week or two ago. She said she was calling because of my family history and my miscarriages. I wound up being on the phone with her for a few hours answering numerous questions about my entire family.

Well, I just got something in the mail today saying that they need me to come in for bloodwork for a chromosome analysis. Apparently, they can tell if they aren't fused together properly and/or are unbalanced. I called them and asked them what the point was of me knowing. They said they often correct the chromosomes if they are not right. They sent me my "genetic screening pedigree" which is pretty much a map. If I wanted to, they can tell me the baby's eye color, hair color, etc... I don't want to know though.

For one I am kind of concerned that they are concerned enough to be doing this. Also, I feel really clueless because I don't think I payed much attention to this chromosome stuff in school. Does anyone know what they are talking about? Do you know anyone who has had these tests? Is this something to be alarmed about?

Logan
09-23-2004, 10:59 PM
Tonya, is this something that your OB/GYN is involved with? How did she find you to start with? I'll be interested in learning more about what you find out.

jazzcat
09-23-2004, 11:52 PM
Wow, that's kind of wild. I didn't know they could 'fix' chromosomes if needed. Science is spooky!

Tonya
09-24-2004, 12:06 AM
I belong to Kaiser which is a pretty big network. My OB/GYN didn't refer me. My medical records are what caused the red flag. I guess what triggered the whole investigation is the fact that I've had a few miscarriages. The letter says "Women that have had miscarriages are at an increased risk for being balanced translocation carriers." (Whatever in the heck that is.) So, they had me fill out some surveys and do some blood work a month or so ago. I didn't think much of it, they said it was just some screening to be safe. Then, a week or two ago, the geneticist called me with additional questions which wound up being a pretty extensive interview. Now, they're calling me in for this additional testing.

Tonya
09-24-2004, 12:15 AM
It's a two page letter but I guess I can type some of the parts that explain it in the letter, I have nothing better to do right now...



Chromosomes are the tiny structures carrying hereditary material in almost every cell of the body...

...It is important to have the correct amount of chromosomal material so that all genes are present. Missing or extra genes can cause physical differences, congenital illnesses, or developmental delay...

...Sometimes we find that there is an unbalanced number of chromosomes (other then the usual number of 46), or chromosomes that look different from their mates. Looking closely at these chromosomes, it may be apparent that there are two pieces of chromosomal material that are stuck together, or rearranged. Such rearrangement of chromosomes is termed a translocation...

...I have enclosed a laboratory slip so we can examine your chromosomes....

smokey the elder
09-24-2004, 09:52 AM
I would strongly advise against this, or at least talk to your OB/GYN. It's suspicious that you got a cold call from this lab. I suspect it's a scam. They have NO WAY to rewrite your DNA. This is a goal in medical science that is at best decades away.

Good luck!

lizzielou742
09-24-2004, 09:58 AM
Hmmmm...

Who exactly is the letter from? What can the genetic pedigree tell you that would be helpful to know in this pregnancy?

Tonya
09-24-2004, 10:46 AM
Originally posted by lizzielou742
Hmmmm...

Who exactly is the letter from? What can the genetic pedigree tell you that would be helpful to know in this pregnancy?

The letter is from a Kaiser geneticist. The genetic pedigree is basically a family tree, but it has all the medical history of your family in it. (*edit* My family tree is royally messed up...both my side and my husband's. There are alot of health problems in our family. I never gave it much thought or realized it until they questioned our history. I jokingly said "Wow, this is depressing, I had never thought this all out." The geneticist replied "Yeah, we tend to do that to alot of people.")

I just called my doctor, she said that she is aware of it and that she did refer me. She said not to worry, it's just a precaution. I also just confirmed that insurance covers it.

As far as the whole point of this...I don't know. I don't see the point in finding out something is wrong with my baby if I cannot fix it. I don't believe in abortion, especially when I am this far along, I'm having this baby no matter what. But they explained that there are some things they can catch with this chromosome analysis that they're able to fix while I'm still pregnant.

This just all seems weird to me though. I am going to go get the blood drawn right now so that I can get it over with. They said it takes a few weeks for results. Hopefully it is no big deal.

Tonya
09-24-2004, 03:40 PM
I did a search, it's not as bad as it sounds. It's a newer, easier way then the old traditional amniocentesis, a procedure where they collect fetal amniotic fluid by putting the needle right through your belly. (Ewww!) Thank God they do this because I couldn't handle the amniocentesis.

Corinna
09-24-2004, 08:52 PM
My daughter just miscarried and they asked for a chrome test on the baby . Its the same test you would have . The kids decided to have it done ($500.00 and they have no insurance) as He was adopted and knows nothing about his genetics. I had asked them to do this before getting pregnat becouse of the diabetes in our family and his unknow factors. I think its a great idea i only wish it would have been avablble to me before having the kids.

catnapper
09-25-2004, 02:25 AM
Wow Tonya, that is very odd. I don't know anything about that either. Please keep us updated on what happens.

Tonya
09-25-2004, 08:46 AM
Originally posted by Corinna
My daughter just miscarried and they asked for a chrome test on the baby . Its the same test you would have . The kids decided to have it done ($500.00 and they have no insurance) as He was adopted and knows nothing about his genetics. I had asked them to do this before getting pregnat becouse of the diabetes in our family and his unknow factors. I think its a great idea i only wish it would have been avablble to me before having the kids.

Thanks, Corinna. It is good to know someone out there has knowledge of this too. After researching on the internet, it seems like it is a pretty common thing. I think it just freaked me out because I didn't understand it. I wonder why they didn't do this for my last miscarriages or when I'd told my doctor we were going to try for a baby again. Seems a tad late now.

gini
09-25-2004, 11:43 AM
Tonya, your thinking is correct......WHY?? didn't they have you take this test before?

I have a good friend who had a normal pregnancy and gave birth to a baby girl.

When she became pregnant again, she was working for a different company with different insurance - excellent insurance!

She was always being called in for all types of tests..........and at the time she wondered if it wasn't because of the good insurance she had that would pay for all of these tests.

She gave birth to a very healthy baby boy.

I would review this with your doctor before having any tests done.

prechrswife
09-25-2004, 06:33 PM
I'm not familiar with this procedure, but I'm glad you found out that your doctor referred you. It seems like she would have told you that before you had to call her yourself. Since your doctor recommended it, it seems to be a good idea.

On another note, we had Kaiser insurance when we lived in Atlanta. My husband referred to going for a doctor's visit there as the "Great American Cattle Drive."

Tonya
11-15-2004, 11:33 AM
Miss Meow's thread about the baby made me think to update this thread. I'm sure you all assumed all is well since I never responded, but I just thought I would let you know the tests came back normal.

kimlovescats
11-15-2004, 12:09 PM
I just now saw this thread today ... and boy am I relieved to see that everything is "normal"!

(((HUGS))) and don't worry about that precious baby!!!;)