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Genetic testing

Genetic testing

We have had a response from our fertility clinic regarding next steps. We were expecting them to recommend to our GP that we have karotyping done under the NHS, but this is not the case. Am I interpreting this right? They are referring to our 1st pregnancy which was lost at 16 weeks. There was a genetic abnormality, but we were told by the geneticist following tests that the trisomy mentioned is not the reason I miscarried, I.e it’s coincidental, and there is no reason to think that particular trisomy is hereditary. So, they seem to be saying there is no reason for further genetic tests. Am I misunderstanding this? I am awaiting copies of my records from GPs surgery anyway to clarify all the various tests we have had over the last few years, as I’m losing track(!) so that may explain what genetic tests we did have done, but regardless we will likely still get these done by our DE clinic if we go down the donor route to ensure no issues present with hubby (or at least we will share this letter with that clinic to gauge their position).

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I would be unsure how to interpret that but didn’t want to not reply. Hope your go records clarify things further for you. Wishing you the best x

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Yeah it does seem to be quite a contradictory letter if that’s what you have been told in the past. It’s all so confusing and when this happened to us we ended up googling and reading confusing articles that terrified us.

Until we actually saw the geneticist at the hospital, all the information from the clinic was quite general and confusing. They could only tell us the blood test results and what they thought it meant but followed up by saying that they had never seen this condition before and so we needed to see a specialist.

The geneticist was brilliant, ran through all the issues that the chromosome issue could cause and did some more tests.

It was really reassuring and if I were you I’d push for them to refer you so that you can talk this through with the experts.

It’s all so confusing 😔x

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My understanding is that trisomy 16 is the reason for miscarriage but that it's not a genetic hereditary issue but hey that's just me reading this and I'm not in any way qualified!! Can you give the clinic a call & ask them to clarify?!xx

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Yes I agree that’s what the letter suggests but the info we got when counselled by the geneticist at the time (this test was a couple of years ago when I had the 16w loss) was that trisomy 16 is connected with learning disabilities and things like Autism and Aspergers, not anything to do with structural abnormalities or life limiting physical conditions - our baby at the time had fluid in the abdominal cavity so it was something quite serious. You know what it’s like you spend half the time waiting for someone to call you back, we waited a month just for this letter. I’ll wait to see what my medical notes say! Hope you’re well and enjoying having your Frosties on board!! 😬 xx

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Right I’ve been online looking up the trisonomy 16 and this is a helpful link. medscape.com/viewarticle/72...

Basically trisonomy 16 is not a structural chromosome disorder so it is unlikely to indicate a chromosome disorder in you or your husband and therefore doesn’t indicate a need for karotyping. A translocation in you or your husband would lead to a structural chromosome disorder. So they are right not to refer you on the nhs but you can still have that test done privately if you want. Hope that helps x

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Bless you Lizzie that’s good of you - thank you, I shall pick up this article. This is what I thought, though we might still have it done by the donor clinic - having said that it might seem like I am “picking on” hubby since the test is not strictly necessary for me if my eggs won’t be used, but I’d still get me tested as well as him anyway just for peace of mind. Thank you!! 🤞🏼 xx

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We found it so helpful to have answers so we had every test going.

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