Geneticist and Fertility Clinic Appointments booked!

[kimmi]

I am really please that I went to my doctor yesterday.

We have had our referral to the Geneticist My DP has whats called a balanced translocation of Chromosones. His mother has it also and he has had two siblings die from a very rare and severe birth defects. It's the sort of disorder that can cause Trisomy 13 and Trisomy 18. So in order for us to get pregnant, we really need to get what's called genetic counseling (booked for JANUARY YAY). From there we have our referral to an IVF clinic to discuss our options. Falling pregnant naturally will be kind of a 'Russian Roulette' as the doctor called it.

Finally we are moving forward and although I am cautious, I am optimistic that at least we can 'have a go'.

I pray that 2010 will be the year of our lives and I can't help starting to dream about the possibilities.

[HotI]

Good luck with your appointments. Check out the IVF/PGD thread where other couples are dealing with genetic conditions and pregnancy.

[diannescruffy]

Good luck and wishing you all the best. I gave birth to a baby with Trisomy 13 and then went on to have a beautiful healthy girl. We were told by our genetic counsellor that Trisomy 13 is not genetic, hope you get the answers you need.

Regards,
Dianne

[HotI]

Good luck and wishing you all the best. I gave birth to a baby with Trisomy 13 and then went on to have a beautiful healthy girl. We were told by our genetic counsellor that Trisomy 13 is not genetic, hope you get the answers you need.

Regards,
Dianne

Hi Dianne,

In most cases, Trisomy 13 is not inherited but just something that happens by chance when the egg and sperm are being formed or join together.

However, some families have variations in how their chromosomes are arranged, which means they have a higher chance of passing on an extra chromosome, or part of an extra chromosome to their babies. This is called a balanced translocation in the parent, and if the bub has more or less than the average number of chromosomes, it is called 'unbalanced'.

hope that helps,

Kate