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Genetic carriers

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Not really sure where I belong so I thought I'd try to create a space...


I'm wondering how many people out there are TTC or are currently pregnant knowing they are a genetic carrier of an recessive syndrome - and have a 1 in 4 chance of their baby being affected?


The short version of my story is - I've had two pregnancies - one terminated at 13 weeks with anencephaly (neural tube defect) and then the second one was found to have encepholocele at 19 weeks. I had to be induced and deliver him and in the autopsy it was discovered that he also had other problems and it was consistent with a small number of genetic syndromes.


We have met with genetic services and they have begun testing on our son's tissues from the autopsy. They are not sure which syndrome it is and if they can even identify it, but they are fairly sure the two are linked and it's most likely we have a 1 in 4 chance of reoccurance.


If they can identify the genetic mistake, then they can offer us either CVS at 13 weeks to identify it or rule it out. Or potentially IVF with embryo testing.


But if the results are inconclusive then we are just winging it and relying on ultrasounds. Both pregnancies identified problems at ultrasounds - the second was after an 11 week and 15 week ultrasound - wasn't picked up till 19 weeks which was devastating after already going through hell with the first.


I guess I'm looking for people going on a similar journey. How do you deal with rolling the four sided dice that is the genetic lottery? How do you get through that 13 week wait? (or possibly longer) and I'm definitely looking for success stories!

People have encouraged me to look at the 75% rather than the 25% but it's hard when you've already had 100%....


Read more: http://www.essentialbaby.com.au/forums/index.php?/topic/1191088-ttc-as-a-genetic-carrier/#ixzz4wPHtrvFQ

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Sorry Elawood. I did PGD but we weren’t carriers of anything just bad luck with our first that I never wanted to repeat.


If you go into the assisted contraception thread and ask in the pgd thread there you might find ladies who are more help.


Have you and your partner had your Karyotype done?


Sorry I can’t be more help I just didn’t want to leave your post unanswered.

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I would look at the pgd forums as well...

Will you be referred to a genetic counsellor?


I have a balanced translocation discovered from a Karyotype test after 2 chemical pregnancies (which followed a successful pregnancy). Fortunately the translocation is relatively severe resulting in failing to conceive most of the time, early mc or occasionally successful pregnancy which was put at around 1/4 with a 1/2 of the child being a carrier. We don't know if DS is a carrier.


We did 2 rounds of PGD which failed to even get to testing stage. Most the embryos didn't even make it to day 5 and they weren't up to testing. This was followed by another mc. We conceived again naturally just before starting cycle 3. We did an amnio at 15 weeks as it had a slightly lower risk of mc, fortunately DD was clear and didn't inherit the translocation. It's been a painful process but I do have 2 wonderful children.

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