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Anyone else a (possible) carrier of a genetic condition?

Category: Special - Pregnant After a Loss
Posted by Quartz3 » Dec. 14, 2012 1:50am

My first pregnancy ended in a TFMR six months ago, after we found out our baby girl had minimal brain tissue and probably wouldn't make it to term. Long story short, it turns out Baby most likely had a ciliopathy which could not be identified, so either it was a simple fluke that will likely never happen again, either my partner and I are carrier of a recessive ciliopathy, which carries a 1 in 4 risk that the baby will be affected.

I am now pregnant again, and very anxious to find out whether this second baby will have a brain.

Is anybody else in a similar situation? How are you dealing with your pregnancy now? What's different in your medical follow-up this time around?

Posts: 96

Replies (3)

Reply by Fingerscrossedxx » Dec. 14, 2012 7:22pm

Our daughter was born with a genetic condition that means she had a severe heart condition, slack muscles and learning difficulties amongst other things. She has now had heart surgery and is doing well but it took us a long time to decide to have another child. We had genetic testing and were told that neither of us had the section of genes missing that our daughter has, so we would be unlikely to have another child with the same condition but they can't rule it out. We decided to have Cvs at 11 weeks pregnant this time to test babies DNA but they couldn't get to the placenta so we had to wait until week 15 to have an amnio. We are now waiting for our results which will take at least 2 weeks. I haven't enjoyed my pregnancy at all so far, when we've told people we're pregnant often their first question has been about the genetic condition. We didn't want people to know about the baby until we got our test results but when we realised we wouldn't get the amnio results until I was 18 weeks we realised we would have to tel people. Only close family and friends know that we are having the testing though. We just don't want to be judged by people who don't understand. I want to know that our daughter will have someone to look out for her once we are gone. Its so hard to deal with on top of all the usual pregnancy tiredness, sickness etc. I really wish you the best of luck, at will you be able to have any testing or will you have to wait for scan?

Posts: 2

Reply by Quartz3 » Dec. 14, 2012 8:53pm

Wow, I hope you get the results soon. It must be so hard to have to wait. It's good that you know that you're not carriers though... but I guess it doesn't make the pregnancy any less stressful. Let me know when you get your results!

In my case, because we don't know what gene was the problem, we can't do any tests. Our plan is a scan at 11-13 weeks (which is when the probleme was detected with our first baby), a second scan at 18-20 weeks, and then a fetal MRI at 22 weeks.

Posts: 96

Reply by Hannahh123 » Jan. 4, 2019 4:41pm

I hope things go well for you. I am sorry to read about your previous loss. I hope this time things go smoothly. Good luck to you. Just make sure to take care of yourself. Visit the doctor regularly as well. Ask them to give you the right medication as well. All my prayers are with you.

Posts: 424