Cytogenetic testing

The results of the cytogenetic testing came back abnormal, which I was actually pretty happy about. It wasn’t meant to be and my immune system had nothing to do with the miscarriage. We can continue with the frozen embryo transfer using the same protocol as before.

The abnormality was Trisomy 14. For those who don’t know (I didn’t until I Googled this), trisomy is when cells have an extra copy (ie three copies in total) of a particular chromosome, in this case chromosome number 14. There’s a good explanation of Trisomy here. It includes a table showing how the risk of trisomy increases with age (around 1/40 at age 42 versus 1/526 at age 20). It is extremely rare for Trisomy 14 pregnancies to make it to full term and the babies who do have many problems.

Of course, this also makes me a little more nervous about any future pregnancies. Most trisomy pregnancies miscarry, so there’s always going to be a possibility at my age of more miscarriages. I knew my age would be a factor but it’s one thing knowing that in the abstract and another realising that you were actually carrying a baby with a problem, even if that pregnancy would never have reached full term. My other early miscarriage last year (from just over 40-year-old eggs, a 1/65 risk if the table is to be believed) may have been caused by a similar problem and not my immune issues, who knows.

Some trisomy pregnancies don’t miscarry, of course. Down Syndrome is caused by an extra copy of chromosome 21 and this has always been a worry for me. However, Down Syndrome is nothing compared with some of the other trisomies. Those babies have a really tough time.

This won’t put me off trying to conceive but, as my clinic doesn’t do genetic testing on the embryos, it makes me wonder about how I can test any future pregnancy for abnormalities to put my mind at ease.

I love the phrase “extravagantly loved” in this video and it certainly seems very true.

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4 Responses to Cytogenetic testing

  1. Solo Mum says:

    So sorry to hear this, but I hope that it’s a small weight lifted to know that it was a course of nature rather than a physical issue (if that makes sense). Hopefully your frozens won’t be affected!

  2. babydreamsandlove says:

    Do they do genetic testing over there for things like this in early pregnancy? Over here – you can have a blood test taken from the amniotic waters to test for genetic abnormalities etc. It does have some risks; miscarriage being one of them unfortunately but it is rare. From what I hear it’s pretty accurate and can even pick up the dna make up completely and tell you what gender baby is from the get go – anyway; not sure if they do or not – and if they do; then you’ve probably already heard about it – but if not, I think its called an amniocentesis; could be something worth questioning. All the best though hun. And again, I’m sorry for your loss!! x

    • Hi there, thanks v much for this. Honest answer is not sure but I think so! I’ve seem amnio and CVS mentioned on blogs here but (because my policy is to go on a need-to-know basis so that my brain doesn’t explode with info before I need it) I haven’t looked into it yet. I definitely think it would put my mind at ease in the absence of genetic testing of embryos. Have to get pregnant again first of course ;-)

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