Embarazada tras una translocación robertsoniana 21;21 (síndrome de Down).
Hello everyone.
I wanted to tell you that I’ve just had a positive test after a loss at 32 weeks due to an unbalanced 21:21 Robertsonian translocation causing Down syndrome. Two chromosomes were attached together and one was free, but it was still Down syndrome.
Now I’ve become pregnant on the very first cycle of trying again, after nine months, but I’m very, very scared that it could happen again and that this second pregnancy could also be affected and I might have to terminate it.
They will probably do an early amniocentesis, but of course… I’m frightened. I’m trying to stay positive, but it’s difficult.
I really need to hear similar stories that ended well afterward.
From everything I’ve read, the most common outcome is that subsequent pregnancies are genetically healthy, but I’m afraid I could have some kind of mosaicism and that it could happen again.
In the previous pregnancy, the Natera Panorama NIPT didn’t detect anything — it was a false negative. I’ve read that de novo cases of 21:21 Robertsonian translocation seem to be overrepresented among NIPT false negatives.
And both my husband’s and my karyotypes came back normal.
But that was our first pregnancy.
Now I got pregnant immediately again, although the first time it happened quickly too.
I would really love to read some positive experiences.
Thank you.