Translocation Down syndrome

[Redhead43]

Hi

I hope someone can help.

I’ve very recently had a pregnancy confirmed with Cardiac anomalies and T21 from an amniocentesis. The decision unfortunately for us is TFMR.

Asif this process isn’t difficult enough with all the waiting I am now waiting again for more answers with a letter from my consultant to discuss the micro array from the Amnio to see if the T21 was caused by translocation.

I understand the splitting of the chromosome as my consultant had explained this today. However, just wondering if anyone out there has been through this or can shed any light on the recurrence of this in future pregnancies? Xx

No help whatsoever just wanted to say sorry you're going through this 💖

If it's a translocation it may be inherited, which would mean that one of you has two chromosomes that have joined together, but still the 'usual' amount of genetic material.

This means that when you make eggs/sperm there is a possibility that some will
contain 'extra' generic material and some might have less than normal. Some will me made that contain the 'usual' amount.

So if it is translocation, they'll probably test you and then advise you from there.

Thinking of you. We had to have a TFMR and it's a tough thing to go through. Stay positive (harder said than done) and dont bottle up your feelings. ❤️

Thank you for your replies everyone.
@rhowton I’m sorry you’ve also been through this it’s just the hardest thing in the world - sending you love ❤️ I’m definitely talking about it more now after speaking to sands x

I’m just so scared that this is perhaps going to be a repeated event for us. The thought of being pregnant and having a better experience was one little thing making this journey the tiniest bit easier and I fear that’s going to be taken away X

Sorry you’re going through this - no personal experience but I do know that the vast majority of T21 are not the translocation type - from memory I think something like