Getting Amniocentesis done due to Chromosomal Abnormalities in Family

[S_a_m_m_y]

I just found out the end of Sept. that I have a sister that has some kind of mental r-e-t-a-r-d-a-t-i-o-n, I was adopted at 8 and we were seperated early, so my DH and I went to see a genetisist for counseling, did some blood work to break down my chromosome and have them analized and found that I have "balanced inversion of my #8 Chromosome" which means I have all of the parts to my #8 but its all jumbled up so it doesnt affect me, as for my sister I guess she's missing parts of her #8 and thats where the mental r-e-t-a-r-d-a-t-i-o-n comes into factor. I guess there is a 50-50 chance I can have either an affected child or pass it on, I now have to get my son tested to see if he is a carrier, he's definitely not affected, he's bright and very ahead of his milestones or right on track. But it will be nice for him to know in his future if he decides he wants children. So I have to go in on Thursday for Amniocentesis at 11:00, they will be able to tell me if the baby is a carrier or affected with this Chromosonal Abnomality.

How are you have been through this handling the emotional roller coaster, was the procedure painful? Does your amniotic sac continue leaking or does the hold heal its self? These are all the questions I didnt think about at my appt today. Thanks ladies for any advice.

 

[Tatertot]

I had an amnio at 21 weeks. It hurt, but, honestly, I think I was freaked out. I had no problems after it.

My husband has a balanced translocation. Our baby unfortunately, had an unbalanced translocation. After he died, we had additional genetic testing done and that information was sent to someone in New York who gave us a realistic look at what the risks of it happening again are.

Good luck with your amnio and try not to worry too much!

 

[S_a_m_m_y]

after having my amnio rescheduled from Oct 4th to Oct 18, I finally got my results back and the baby that I am carrying is not affect in any way and the baby is a BOY. we are ecstatic!

 

[Charliemarina]

fantastic news hunny and congrats on ur baby boy, also iv heard that the amniotic sac is self healing so i wouldnt worry about that to much hunny xxxx

 

[Tatertot]

That's great!

 

[S_a_m_m_y]

Thanks again today is a happy day definitely on !