Help! Amnio results I don't fully understand

[smitty429]

I just got my amnio results for my twins. Baby B is a boy and is perfect. Baby A is a girl and all of the major chromosomal issues have been ruled out, which we are very relieved about. The only thing is that, apparently one of the 16 colonies of chromosomes had an abnormal pattern. The doctor said that it could be nothing, but he's going to do another 2nd level ultrasound to make sure everything is developing properly. Has this ever happened to anyone? I'm so confused. I kept asking him what it meant. What could potentially be wrong with the baby? He said we was going to check with his genetecist to check some case history to see some statistics. He said I could get another amnio, but that he doesn't really recommend it. He did say the the chances are low that anything is wrong, and that we ruled out all the major stuff that could be wrong. I just wish I knew what this could mean. I mean, believe me, I'm very happy that they are chromosomally fine! I just wish I could fully understand what the doctor was talking about. THanks for any insight anyone can provide.

[BC-GoMom]

Hi Lisa,
Boy /girl twins! That is wonderful. Sounds like your DR is being careful. I am sure he would have given you more answers if he had them. A level ll can be useful information. I do hope things turn out ok. I am sorry I cannot help you in decoding the info.... you may want to shoot a post to the genetic issues bb with beckyc she has had training in genentic issues and maybe helpful. Send us an update when you can.
JenC

[smitty429]

THanks Jen, I just sent her a message. I'll keep you posted. I've decided that I will try not to worry so much. I know I have at least one perfectly healthy child, and probably the other will be fine. There's a small chance that there might be a developmental problem, and if I keep on checking with the ultrasounds, and they come back good, then I'll stop worrying. Thanks and I'll stay in touch.

[Fernanda]

Hi Lisa,

I am glad I was lurking here today. Perhaps I can help you. for what you said it is possible that they are talking about a technical artefact. For an abnormality to be called "real" in amniocentesis you must have it in at least two colonies or cultures. If it happens in only one colonie or culture there is a high chance it occured due to the culture procedures and it does not exist in reality. What the lab should do to confirm it is to analyse more colonies to check if it is really only one that carries the abnormality. They will probably do it as it is standards procedures in prenatal diagnosis.

Can you understand? If not I will try to explain again...

I hope you get an answer soon from your doctor calming you down...

best wishes,

Fernanda (adoptive mom to Dennis and Lara, and geneticist)

eddited to say that I have only now seen that the post is a couple of days old so perhaps you have already an answer...

[smitty429]

Thanks so much for your reply. Actually, that's exactly the case! I went back in for another level 2 ultrasound on Friday and met with a genetic counselor. She was great, and actually took the amnio report back to the doctor who analyzed the test. He was on vacation, so she spoke with another group,who believed that the tests were normal. Since they found one colony that was questionable, they would've had to find 12 that were normal. There were only 6 more to look at, and they were all normal. But apparently, if there were more to look at, it would've come back as a completely normal result. Plus, the type of abnormality they found, they said would've been too weak to multiply. I don't know if that means the cell would've died or the baby would've miscarried. All I know is that I am sooooo relieved! We then went into the ultrasound and everything looked great! Both babies are developing at exactly the same rate, and they both look good. They are very active in there! So I feel better about it all. It was a very upsetting couple of days. I appreciate your responding.

[Fernanda]

I am very happy for you! Enjoy your pregnancy!!

Fernanda