Trisomy 7 Mosaicism

Has anyone experienced trisomy 7 mosaicism or knows of anyone who has?

I'm interested to hear how things have worked out please.

Holly

I haven't had experience with trisomy 7 mosaicism, was this diagnosed through an amnio or CVS? Have you talked to a genetic counsellor?

I know that trisomy 7 can appear in some cells in the amniotic fluid detected through amnio, but the cells in the baby have often 'lost' the extra 7 and bub is born healthy.

If the bub does have trisomy 7 mosaicism (which is rare) it can be hard to compare between bubs, because it depends on how many cells in their body have the extra 7, and which organs the cells are in.

There are other mums who have bubs with other chromosomal variations, so hopefully they will pop in too.

take care,

Kate

Hi Kate,

It was diagnosed through CVS and we will be doing an amnio this week. I'm hoping the amnio shows no trisomy cells, which apparently is common. Unfortunately I know that if the amnio does detect trisomy 7 there isn't really any indication of how the baby may be affected (if at all).

We are also checking for UPD.

Hi Holly,
I've had a bub with Trisomy 13 which causes severe deformities and classed as not compatible with life. I wish I could give you some sort of information on Trisomy 7, hopefully someone else here can. If you have any questions that I can answer for you, please ask away.

Regards,
Dianne

Holly I am sorry you are having to deal with this - it is very difficult...:comfort:

Kate answered you superbly - it is quite an unknown IF your baby does in fact have trisomy 7. It is quite rare. Are you seeing a well regarded fetal medicine obstetrician? Have you had genetic counselling? What day is your amnio?

Sending you my love and support. :hug:

Hi Dianne, I'm sorry things didn't work out well with your bub. It seems that trisomy 7 mosaicism is not as severe as trisomy 13. Trisomy 7 only exists as a mosaic (some cells are affected and some aren't) otherwise it is fatal very early in pregnancy.

I have found a few case studies and trisomy 7 is certainly not incompatible with life as we were first told. It seems that it may result in some problems for the baby, but most are fine. This is what I'm trying to find out more about.

Flowerchild, my amnio is on Friday. We have spoken to a geneticist, but I'm going to look into whether we are seeing the most appropriate doctor. I haven't been impressed that various doctors have very confidently given us information that is just wrong. It is clearly up to me to make sure that I'm asking the right questions and getting the right answers!

It is all very frustrating and I thank everyone who has replied for their support.

Dear Holly

Having trisomy 7 mosaicism detected via CVS (rather than from amnio) is more promising, because it is possible this is due to a change only in cells from the placenta and not the bub.

Very early after conception, as the cells split, some cells go on to make the baby and others go to make the placenta. Sometimes, a change may occur in one of the cells that goes to make up the placenta and this change will not be in the cells that make the baby.

CVS takes a sample of cells from the placenta, whereas the cells from amniocentesis are taken from the fluid surrounding the bub, and are 'closer' to the bub than the cells from the placenta.

Many doctors are not familiar with the rarer chromosomal results, and may be reluctant to admit it. A geneticist at one of the major hospitals should be able to explain as much as is currently known, even if they have to research and get back to you.

Hope your amnio goes smoothly and gives you some more answers.

take care,

Kate

Hi Holly,

im sorry i dont have the answer but do understand the waiting time and frustrations in just wanting to know if your bub is alright. MASSIVE MASSIVE hugs sweet!!:hug: :grouphug: :grouphug: :hug: :grouphug: :grouphug: :hug:

Grrr, just lost a big long post! Here is a quick summary.

Kate, I'm hopeful about the amnio. Apparently with trisomy 7 mosaicism it is usually confined to the placenta. We are doing the fish test, so should have results quickly.

Squidipa, I see you are waiting too. You might be interested to hear that my original risk factor for trisomy 21 was one in five.

I had my amnio Yesterday and we got the FISH results today. According to the geneticist, it was a good result.

We have a few more results to come, but so far so good. I'm not really sure how I feel yet. I don't think it has sunk in.

They also did some measuring with ultrasound before the amnio and our baby is growing well. That was very nice to see.

That sounds like good news Holly. Make sure you take it easy now and rest as much as possible after your amnio. All the best.

Regards,
Dianne

I am so happy for you Holly... :hug:

Great news Holly, Hope the next couple of weeks goes quickly for you.

Take care,

Kate

Great news Holly :hug:

Thanks everyone. It is nice to have support.

Holly,

We just joined, and ready some of your posts.
We have also had a mosaic trisomy 7 result, but on an amnio rather than a CVS, (CVS has more false positives).
Can you send me your email address for a few quick questions?
Thank you