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.
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.
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!!
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.
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