Trisomy 22 miscarriage(19 Posts)
Just found out that the reason I had a miscarriage was that the baby had trisomy 22 - apparently that means it had an extra chromosone - and the miscarriage was nature taking its course - does anyone else know anymore about this? Wasn't in a fit state to ask the doctor any questions - my mind went blank.
im so so sorry, when did you mc?
i think herbaceous on the ttc after mc thread had this but not sure.
It happened 2 months ago, but only got the results of the test today.
I'm so sorry to hear this. Do you think your doctor would answer any questions you put in writing? They could even give you a follow up appointment if you explain that you couldn't ask at the time, it must happen often in such a distressing situation.
I lost a baby due to a trisomy disorder, but a different chromosome.
Asked DH - who is a cytogeneticist.
You normally have 46 chromosomes in a cell - 22 pairs plus either xx or xy.
Eggs and sperm have half of this each - 1 each of chromosomes 1-22 plus either x or y (sperm may be either, egg is only x)
Sometimes something goes wrong with the splitting of the chromosome pairs to produce the egg or the sperm, and it gets an extra chromosome.
Then when the egg and sperm combine, you get an extra.
eg an extra chromosome 21 would lead to having 3 copies of this chromosome. Hence called 'trisomy 21' - which is Downs' Syndrome
Trisomy 22 is non-viable and associated with spontaneous abortion.
I hope that this helps - any questions?
I'm so so sorry to hear of your loss
I don't have any experience, but you should be able to talk through your notes with someone at the hospital, if you feel emotionally strong enough. If you contact the hospital's patient liaison service they will help you set it up.
Take care and be kind to yourself. I've had two mcs so can empathise with your shock and confusion.
Trisomy disorders are relatively common, the only ones compatible with life are (AFAIK) trismies of the sex chromosomes, trisomy 21 (Down;s syndrome), trisomy 13 (Patau's sybdrome) and trisomy 18 (Edward's syndrome).
Usually they just happen through bad luck- more common in older mothers in particular. Occasionally a parent can have a chromosome rearrangement- which means they have the correct number (so are fine) but they're arranged in a way that makes it more likely they'll produce trisomies in the eggs or sperm. These can be picked up on a blood test and are very rare (and wouldn't usually involve chromosome 22).
thanks all for writing back!
I know i SHOULD have asked some more questions so will maybe make another appointment ( but get charged a lot for each one so resisting).
Donk - could you ask you dh - could this be due to something like smoking? My dh does and I would really like him to stop.......not that I blame him in any way for this.
We are both on the 'older' side of things too - so I guess that doesn't help!
I'm not an expert, but i'm sure that your dh smoking had nothing to do with it. I think it is natural to look for reasons, though.
Age has a bigger effect that things like smoking. Trisomies (and other chromosomal problems) are very common in humans - its why the early miscarriage rate is high in humans. Probably many early miscarriages are due to chromosome problems- and its the reason that rates of Down's Syndrome increase steadily between 35 and 40 and then climb rapidly.
UNless one parent is carrying a chromosomal rearrangement (rare, but easy to pick up- it would be one of the things that they would look for after 3 unexplained miscarriages in a row for example) it's usually just a 1 off.
DH suggests that you could try contacting your local Clinical Genetics department and explain your position - he thinks that they will probably be happy to answer your questions without you having to get formally referred by your gp(- or seeing your expensive private doctor). This does however presume that you are in the UK.
definitely talk to geneticist. trisomies 21, 13 and 18 are the only ones which result in a live birth (though the last two are life-limiting, most babies die within a few days). write down what you'd like to know and record the conversation if you can, as it's easy to forget things when you're stressed, x
Thanks for all your messages.
I had a chance to think more clearly about what to do - and have decided to try and move forward rather than work out reasons why it happened...
in a way its good to know that it wasn't due to lifestyle factors as I was very stressed during the time I was pregnant and always wondered if that brought it on. I know my dh thought he should have helped out more at home - and was feeling guilty too.
can someone please please explain to me simply what my problem is, i have had 54 cells grown for my cvs and 5 of them had an extra number 2 chromosome? what does this mean for my baby???
sorry, didnt explain fully....had a cvs cos of finding a nuchal fold, it came back as a mosaicism...great! that was the result as explained by a geneticist, but he was vague as to how it may manifest itself, he mentioned facial disfigurement! internal organ problems! learning difficulties or........ a normal baby!!!!!! HELP, im so confused! am having an amnio monday but he said the result wont really help in a diagnosis cos if its all clear, then that will yes rule out placental probs but wont rule out baby probs as the cells they recovered from the amnio may not of got the bit with the extra chromosomes in it! im so depressed. Have a heart scan for baby at 20 wks, im 15 wks now.
sorry I have only just seen this thread and don't know if you have started on another, but I have had mosaic trisomy diagnosed in a pregnancy 5 yrs ago, v long story,but also had the amnio & heart scan to go through, am happy to talk to you if it will help
sorry this has happened, I know you will feel so sad, angry, confused and overwhelmed
I had a miscarriage in 1968 and although it was not confirmed that something was wrong I had a daughter in 1971 with Trisomy22. She is in a residential care home now. I am happy to talk about my experience.
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