Genetic testing after miscarriage/ tfmr

[anicecuppateaa]

I had a tfmr in mid dec at 15 weeks and the hospital organised testing to confirm if there was a genetic condition causing the fetal anomaly.

Has anyone had this done/ know how long the results take? I’ve heard nothing from the hospital since I had the scan that led to the tfmr so have no idea what happens next. I was alone during the scan appt and in shock/ didn’t take things in properly.

I'm so sorry for your loss.

I had a TMFR in June 2020 and was told it could take anywhere from a few weeks to a few months. I was further at 24.5 weeks though so not sure if that effected the timeline. I opted not to in the end as for us it wouldn't tell us anything other testing hadn't already.

Did you have a bereavement midwife? Can you get in touch with them? I found them to be really good. Worst case I would go to your doctor. They will be able to chase up records. They should also be sent information from the hospital about your TFMR so might have information in that about any testing.

Thank you, and I’m sorry for your loss too. It must have been so tough going through that at 24 weeks.

They offered me a cvs on the scan day but I panicked when they said the genetics team might want to do more scans if the results were inconclusive (and drag things out). In hindsight I should have done the cvs as I’m sure I would have had an answer by now.

I’ve just emailed the fetal medicine midwives so let’s see. Thanks for your help with this.

I had the amniocentesis which I think is like the cvs testing. It did drawn out the process . It took 2.5 weeks for the cells to grow for them to tell us there is no common defect (they also looked for some specific defects because of my daughters developmental issue). The chances of the further testing picking anything else up where slim and if they did it wouldn't be something that could be prevented in future - basically the outcome of knowing and not knowing would be no different.

I'm sure the fetal medicine team will get back to you with at least a timeline of when you might know. I always found it was always we can't tell you but normally it takes xx amount of time. Which is hard.

I'm so sorry for your loss. I had genetic testing due to recurrent miscarriage. The results took about 10 weeks to come back x

So the good news is they replied quickly this morning and said they had the results back yesterday. Bad news is I replied and asked them to email them over and haven’t heard back. Hopefully will get them tomorrow…

Good news they are back. They will probably arrange an appointment to discuss them rather than just send them. The report probably makes no sense until you are medically trained.

Thanks everyone. I have the results - confirmed T21. And a baby boy.

Sorry for your loss OP
I had a TFMR due to patau syndrome. I don't know if Downs is the same, but DH and I were given genetic blood tests afterwards. This was to check if the babies issue was due to a translocation of a gene or something that could re-occur again. We were both clear and told the chances of it again were the same as others.

You might find info on the Tommys site too. https://www.tommys.org/

@JC03745 patau syndrome is also from a trisomy, but it's trisomy 13, whereas down syndrome is trisomy 21.

@anicecuppateaa I'm glad you got your results. I'm so sorry for the loss of your little boy x

Thanks @Moosey898 I feel sad but relieved to have the results. I was worrying it would be something unheard of/ rare (which has happened to us before).

@Moosey898 -patau syndrome is also from a trisomy, but it's trisomy 13, whereas down syndrome is trisomy 21.

Yes, I'm very well aware of that! I've lost all my pregnancies, and had 12yrs TTC to read up about all types of trisomies, monosomies and other genetic causes for my losses.
Hence I said to the OP that I don't know if she would have the same testing as myself due to her pregnancy having Downs-T21.

I’m sorry for everything you’ve been through. Luckily/ sadly i’m also clued up on this stuff. We had a full microarray of genetic testing a few years ago after our dc was born with a rare genetic condition. The good news is we already know this T21 was a primary occurrence so if we try again, the risks are not increased.

@JC03745 sorry no offence meant! From your original message it sounded like you weren't aware of this. I'm in a similar situation where I've lost all my pregnancies and was diagnosed at the end of last year with a rare combination of chromosomal abnormalities so was just trying to help.

@Moosey898 No offence taken at all and sorry for you losses too. What I meant was, I don't know if the OP would have the same genetic tests I did. Wishing you all the best x

@JC03745 thanks, you too.

OP I hope you can have the testing done, it's so useful to have the knowledge one way or the other x