TFMR at 22 weeks, don’t know whether to do genetic testing?

[ammmmmo]

Hi all,

I am extremely sadly have a TFMR next week due to our baby having multiple serious heart defects which was picked up on our 20 week scan. The specialists at GOSH thought there was a relatively high (50/50) chance of the baby having a genetic syndrome also (likely Downs or DiGeorge’s).

We initially decided not to do an amniocentesis as it wouldn’t change our outcome, however now as we are talking about wanting to TTC again in the future, I’m wondering if it would be beneficial to know at all if something was wrong, or if this is likely just “one of those things” that happens by random.

We already have a healthy 2 year old (1st pregnancy), we had a missed miscarriage last year (2nd pregnancy) and this time round this (3rd pregnancy).

Our first pregnancy was faultless, so clearly we “can” conceive healthy children, but I feel like our luck is against us and wonder if there’s another aspect to it. Has anyone been in a similar situation? Would you recommend having any testing on this current pregnancy (it won’t change our decision on the outcome)? I know I could have an amniocentesis on future pregnancies but I wouldn’t want to due to the miscarriage risk, I am aware of the NIPT test also but don’t know much about it.

Thank you.

Oh how awful, I am so sorry this is happening to you.

To answer your question, it rather depends on how you are as a person. For me, I couldn’t not know, because then I would maybe have some stats that would either reassure me next time (this was just a freak thing) or put in place some sort of plan for earlier screening if possible. I know that I would spend the next pregnancy very anxious about the same thing happening. If, of course, you think you are likely to happen again.

FWIW, an NCT friend of mine had a stillbirth at full term with baby #2; turns out that baby had undiagnosed Down’s Syndrome, and a heart defect that was missed on scans. It was incredibly hard but they went on to have another child later with no issue.

I hope you work out a decision that is right for you.

@Peekingovertheparapet Thanks for your reply, I feel exactly the same - that I would rather know for reassurance or for extra measures to be in place.

If you don’t mind me asking, what testing did you have done and at what stage of pregnancy?

Thanks for the story about your friend, it sounds very similar but gives me hope x

We did the NIPT test at 12 weeks because the outcome would very much have dictated our decision wherever to carry through with the pregnancy or not. Since you say knowing won’t change your mind, then why do the test?

@thebestinterest To know if we are already at a higher risk for future pregnancies (i.e. as in is it worth even trying to hope for any more children)

I'm really sorry you're going through this. I had a TFMR about 18 months ago. For me, I wanted to know- it was my first pregnancy, and I was worried it was something with a high risk of recurrence, or something linked to maternal age (silly, seeing as I was only 32 when I conceived). It turned out to be Turners syndrome, which happens randomly and has little link to age. It gave us the confidence to try again and we now have a lovely little boy who was born on the anniversary of the awful scan.

The diagnosis also made me feel better as the condition has such a high fetal death rate that it removed any idea in my head that I had made a choice to end the pregnancy.

So for me it was positive. Whether I would feel that way if the results had been something else, something like Downs with a higher risk of recurrence, I don't know. I've also spoken to women online who have had the genetic testing done and come back with nothing, which would also be difficult if you were expecting "answers"

I hope it all goes as smoothly as possible and you have lots of support and care in the next few weeks.

@ammmmmo i have never had any testing because I have been fortunate to not need it, but I assume something like the NIPT early in a new pregnancy might be able to reassure you.

and of course, before you get there you will have to make peace with this outcome, so testing this baby to get a fuller understanding may or may not be part of that process for you.

For my friend, I am not sure they did testing as it was very obvious the baby had Down’s from physical appearance (they knew straight away), but I don’t know how that will be at your gestation.

you could look for support from Sands, also Remember my baby will send a photographer (sounds bizarre but many couples gain comfort from some memories of the life they created). Hopefully you will have good Bereavement Midwives to help guide you.

@Thefrogwife I’m sorry that happened to you also. Do you mind explaining what testing you had, and at what stage of pregnancy/termination? I am totally unclear on what my options are, and whether it can be nhs funded or if I would need to pay etc. Thank you.

Probably the thing I’m missing here is that answers may not be forthcoming so perhaps try not to pin all hopes on that. It’s just a chance of knowing.

Hey OP. I had NIPT recently and it is a screening test for Down Syndrome, Pateus and Edwards. It’s not a diagnosis. They basically separate the chromosomes in your blood to see if they can see any of those syndromes then either give you a high or low risk result for those conditions. I’d recommend the amniocentesis as that’s a definite and I believe results are quicker from that than the NIPT

@ammmmmo Sorry, should have explained. Going to sound a bit grim, sorry. They can test the placenta afterwards. They just need your verbal consent at the time so they don't dispose of it. They can also do a post mortem, and you have to full in a form to do this. We had both but it was the testing of the placenta that shows all the genetic stuff. I'm not sure the post-mortem was helpful, and filling in the form (while in hospital recovering) was very upsetting because I didn't really know what a post-mortem involves prior to that.

We were offered an amnio prior to making the decision to end the pregnancy but it was quite obvious to us from how everyone was acting just how bad the scans are, and I was honest and said I couldn't face an invasive procedure on top of the termination itself (which was medical, not surgical, so involved delivering)

This was all on the NHS and was explained to me prior to the termination. You should really talk to your consultant or whoever is leading your care to confirm they are offering the same.

Sorry again about all this.

@ammmmmo I personally would do the testing, because as you're considering it, I suspect you will always wonder if you don't. In your position I would also arrange karyotyping for you and your partner, you'd likely need to arrange this privately. This will check if you or your partner have a balanced translocation, if one of you does it makes this kind of issue more likely. If you don't then it's likely just bad luck. The risk of these issues also increases with the mother's age.

If you test while still pregnant, the results will be rushed through (as I understand - we went through similar last year and we had the amnio which meant didn’t have to go through post mortem). If you test after having the baby, it will likely take longer to get results. Just fyi. And I’m really very sorry. It is a dreadful thing to go through.

I’m so sorry you’re going through this.

In this case, as it is your second pregnancy not to go to term, I would have the genetic testing and both your karyotypes done as mentioned by a PP. Knowledge is power. I had tissue tested from two miscarriages and they turned out to be random chromosomal issues and our karyotypes were normal which gave us a little hope at least when we were trying again.

When I had my TFMR I had all the testing that they offered. I knew it wouldn't change the outcome, but I wanted to be armed with as much information as possible moving forward.

It was our first pregnancy, and we felt we needed as much information as we could to make decisions about conceiving again.

Whilst the team at Evalina were amazing, they couldn't answer the question 'what are the chances this will happen again' without the information from the tests (obviously couldn't give a 100% answer WITH the tests, but we're able to make a more educated guess).

More shit to have to deal with at the time, but ultimately gave me more peace of mind later down the road, which was worth every second of stress at the time.

This is a good point- we waited months for our result (and then the consultant got covid and cancelled our appointment so a nurse told us over the phone...)

Just to echo the poster above who mentioned karyotyping for yourselves to rule out a balanced translocation or something. If you do the amnio and something chromosomal does come back then likely the NHS will do this for you anyway and you will get genetic counselling which is informative and useful in my experience. But at the end of the day whatever you can cope with is the right decision. Be kind to yourself OP

Thank you everyone for your really helpful replies, I have spoken to the hospital who have agreed placenta testing may be a good idea, so just trying to get this plan in motion.

Sorry for everyone who has gone through this also, I wouldn’t wish this upon anyone 💐