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Miscarriage/pregnancy loss

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Karyotyping / balance translocation

2 replies

Lifeafterloss22 · 07/09/2022 14:14

Just as I was doing everything in my power to investigate my three consecutive miscarriages (bloods, biopsy, NK testing) we get our results back that the third pregnancy was lost to a genetic imbalance - trisomy 16.

There isn’t a single pill or action that could have been done to save the pregnancy, it was incompatible with life. To get an actual answer feels over whelming. But I’m absolutely terrified as to the next step.
They’ve took bloods from me and my partner to rule out any balance translocation. I’m told that it’s unlikely something will flag up, but we need to know for future. It’s a 3 month wait for results.

Could someone please share their experience of karyotyping results? What your next steps where? Did you conceive naturally, eventually? Or did you go down the IVF route?
i can’t help but feel my fertility is like Russian roulette if something is picked up.

I’m starting to feel ready to try again, but can’t help but wonder if I’m being crazy to contemplate with these blood results outstanding.

I am told that Trisomy 16 is very common, but with the recurrent miscarriage it makes things more complicated.

Please, somebody help.

OP posts:
Stargazer89 · 23/09/2022 19:30

@Lifeafterloss22 I don't have much advice to offer i'm afraid but just wanted to say that i'm in a similar position.

After 3 consecutive miscarriages my third (and only miscarriage tested) came back as T16 too. I just had a letter stating that next time i'm pregnant I will be offered an early scan and then a diagnostic test on baby around 12 weeks. They haven't asked to take bloods from myself or my partner.

We already have a healthy 2 year old so feel incredibly fortunate, but it's still a worry. Our 3 miscarriages were back to back and baby never grew past 6/7 weeks in all 3 which I think is typical in T16 so I can't help but think that maybe all of mine were down to T16 and that we just got incredibly lucky with our daughter.

Wr are currently taking a few months off and going to start trying again in the new year although approaching late 30s so don't feel age is on my side either.

somethingluscious · 25/09/2022 11:40

I am looking into this as well as just suffered our 4th loss. This one was far enough along that I had an early scan and an getting tissue tested. We had 3 early losses at 5-6 weeks between our two daughters and I never thought it could be anything other than my subfertility. It was just this time as my HCG was great & body seemed well primed to carry a pregnancy.

Regardless of the results we will probably just keep ttc naturally as my cycles are as regular as they are likely to get. I was reading from Robert Winston's Q&As that chances are probably better that way anyway, particularly as I am 44.

If we have genetic testing of this latest loss and then go through recurrent miscarriage referral it may give us answers, but it is clear we are able to have viable pregnancies. I suspect a balanced translocation now or autoimmune. It makes it important to check into anyway as our daughters could then have balanced translocation if it was that.

The other thing is I can probably get the tests done privately and looked at that. I probably would if it isn't covered by our referral. And I was planning to do day 2-5 bloods and AMH independently next cycle, just to check & reassure myself.

I absolutely understand how you feel about being torn, because you feel like you are potentially putting yourself through so much pain & risk to try to conceive a viable pregnancy. That can feel very foolish and selfish, but I have a wonderful 11 year old because we kept trying anyway. x

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