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Genetic testing

3 replies

Hannahusky · 26/11/2020 19:51

Hi everyone,
I'm just really hoping for some experiences (good and bad) and some information.
So my baby boy, who was my first child was born sleeping in June just past with Trisomy 13. I had a horrific pregnancy. His heart defects were missed at my 20 week scan (but other defects were found and not taken seriously) and when I pushed for further investigation the cardiologist didn't communicate with any other departments so I was 31 weeks pregnant when I found out he had the condition after amnio.
But this isn't about that exactly. I was told he had the full trisomy but after my horrific experience I don't know I can put the trust in them to give me accurate information so my DH and I are considering genetic testing before TTC again.
Can anyone tell me what their experience of this was like? If your result was that you did have a translocation, what happened? Did you continue TTC? Likewise if it was the test was clear, did it reassure you?
Sorry for the essay but I'd never even heard of the trisomy or genetic testing before my pregnancy and would love some info.
Thank you.

OP posts:
Anja05 · 26/11/2020 23:21

Maybe diffrent situation.My son was born 10 years ago,and today I contact development center that he visited years ago,becouse I wanted to know if he had genetic test when he was 3,and they said he did and that he was ok wich means me and my hubby are also ok.If he has some genetic problems then they would check us aswel.My son has some little development delays.I am pregnant now and they thinkig if they should investigate us.maybe it dont help you xx

notinthestarsigns · 01/12/2020 00:21

Hi, our baby was born in June after his heart stopped beating, he also had Patau syndrome, we have been informed by the Consultant that it is not genetic, so we are not having any further testing. I don’t think I will ever feel completely reassured in another pregnancy if I’m being honest.

Hannahusky · 01/12/2020 09:26

@notinthestarsigns I am so sorry for your loss. I got reassurance from our specialist midwife on Friday that it was definitely the full trisomy and therefore not genetic. It had definitely made me feel more hopeful but I feel the same way in that I don't know if I'll be totally reassured. I wish you all the very best for your future.

@anja05 Congratulations on your pregnancy! I hope everything goes well and that you get the answers you need.

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