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Miscarriage/pregnancy loss

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Genetic testing following recurrent miscarriage/tfmr

1 reply

Notsure31 · 02/03/2025 09:00

I am currently on my 4th pregnancy with no living children, it’s my first with my current partner, I had 3 consecutive miscarriages with my ex partner.
Unfortunately my current pregnancy has been diagnosed with a chromosome issue (trisomy 21) and abnormalities on scan so we are likely going to need to TFMR.
I had genetic karyotyping from my 3rd miscarriage which was caused by trisomy 11 and triple X syndrome, I had the blood testing for balanced translocation and it came back clear.
Obviously my current partner hasn’t had any testing as it’s his first. However we have been told we can be referred to genetics.

I’ve since been doing my research and learned that there is further extensive genetic testing which I didn’t have. Does anyone have experience of requesting whole genome sequencing and how I can push for this? It just feels like more than “bad luck” that this has happed 4 times in a row with at least two being chromosome problems, other two are unknown.

OP posts:
Moosey898 · 03/03/2025 16:59

I'm sorry for your losses and the stressful situation you're in.

I had karotyping done after my third loss, and subsequently found out I have 2 separate translocations, but these did not cause that loss. It was cause by a random genetic issue that was unrelated.

After my 4th loss I had the fetal tissue tested again (I'm very lucky to have an incredibly supportive EPU). Turns out that at least the 3rd and 4th losses were random and not due to my diagnosis. It is gutting because I'm already at a high risk of miscarriage, to have at least 2 "just unlucky" losses out of 4 feel especially cruel but sadly it is possible to have repeated bad luck.

I'm honestly not sure if you can get whole genome sequencing without paying privately, really don't know if it's something the NHS offers? Because I got a diagnosis from karotyping I didn't go any further down the testing journey currently.

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