19 June 2017

We were referred to a geneticist for more information by my consultant. I'm not sure what I was expecting in that meeting, I think in advance of it we were expecting more answers about what to expect. I had a lot of questions written down, which I brought with me, unfortunately the geneticist had no more information than my consultant, in terms of the IVF questions we had.

We had about 12 questions, 9 of them were about IVF, and he couldn't answer them. Of the remaining 3, two were essentially the same question, and he explained that the process of looking at the chromosomes would destroy an unfertilised egg or sperm, as unlike everything else that contains chromosomes, they only have one copy of each, or they should only have one copy of each, so can't be looked at! The last question he answered, although I think I had always somehow known that would be the answer!

The first thing he did when we arrived was take a genogram of my husband's family. He asked if there was a history of disabled children, a history of miscarriage, and a few other questions. I think this was more to provide him with information to be able to inform us, rather than anything else.

We advised him that my ob/gyn had requested blood testing of my husband's parents, to check if either of them have a balanced translocation too. He informed us that this information might give him more information of our chances, but was very vague. In fact, I think his specialty was not anything more than an ability to give incredibly vague answers.

Prior to going, my ob/gyn had informed us in that first meeting where we were told about the balance, that the chances were 50% unaffected child, and 50% affected, but it may not be as simple as that, because the sperm may not be as good swimmers if they are affected, and he was unable to give us answers on the possibility of disabled children. He indicated that the geneticist would have more answers. The geneticist did not.

The geneticist did not confirm that sperm being affected, rather than eggs, changed the chances, but acknowledged that it was a possibility.
The geneticist advised us that it was likely that the chances were 50% unaffected; 40% affected and miscarriage; and 10% disabled child. He also informed us that due to where the chromosomes were split, there was a significant portion of 13 attached to 4, and not as much of a significant difference attached to 13 from 4. So, we had a small amount missing from 4, and a significant amount extra of 13. He explained that when there is a large amount of missing material a baby is unlikely to survive, and so the unbalanced option that we did not experience may never even make it to a positive pregnancy test.

If you look at the section before the contents on this Wikipedia page, it has a few notable pieces of information.
Most cases of aneuploidy result in death of the developing foetus.
The most common extra autosomal chromosomes among live births are 21, 18, and 13. (This refers to a full extra copy I believe.)
21 is well known, Down's syndrome. 18 is Edward's syndrome, something I had heard of, but the prognosis is poor, with babies unlikely to survive beyond one year.
13, that's the one I am concerned with. Full Trisomy 13 is a condition called Patau syndrome, and the prognosis is pretty bleak for infants with the condition. Our baby had partial trisomy 13, which I'm not sure is worse or better. In addition there was a bit missing of 4, which will also have had an impact.

According to Wikipedia (whaaaat?! This isn't an intellectual blog, I can cite wiki if I like!) Many infants with trisomy 13 have difficulty surviving the first few days or weeks due to severe neurological problems or complex heart defects.
More than 80% with Patau die within 1st year of life.

The geneticist cannot have all the answers, because he is looking at theoretical possibilities, with no cases just like ours to properly study, except for what was found in the post-mortem. I don't have a medical degree, and using doctor google, I can see various possibilities with unbalanced children. The option we had, too much lemonade, resulted in a child that was not able to survive. However that may not always be the case, depending on the other chromosomes at play, I don't know. The other unbalanced option, too much beer and not enough lemonade, well usually that results in a hangover, but in our case the child would have a lot missing from 13, and not much extra from 4. Although the geneticist suggested that this option would be less likely to survive than the first. (Probably something to do with having too much beer, really shouldn't give babies beer you know, bad for them!) He did not go into any great detail on the likely possibilities, I'm not sure if he didn't want to tell us something that would later turn out not to be true, but I wanted some information rather than no information.

The geneticist gave us what information we had been told in previous appointments by my consultant, and a little more that I found with the help of doctor google. I'm not in the habit of using doctor google, he pretty much always tells his patients they have cancer, but I got more information from him because it's such a different and difficult thing to get your head round that even trying to remember what it's called was hard enough, and we were looking for information we had forgotten in the first overwhelming meetings.

Over a month after that appointment, we received a letter dated 21 July 2017, telling us the following:
1. My pregnancy loss was caused by a chromosome abnormality.
2. Everyone should have 23 pairs of chromosomes.
3. My pregnancy had lost genetic material from a region of chromosome 4 and had an extra copy of material from a region of chromosome 13.
4. My husband has a balanced translocation.
5. The outcomes of that translocation (i.e. the lemonade&beer option, the two shandies option, or "other combinations" options.
6. The other combinations options are likely to miscarry but can result in the birth of a handicapped child. Estimated risk of live birth of handicapped child: 10%.
7. The chromosome rearrangement in my husband could have arisen in him, or could have come from his parents.
8. We told the geneticist that my husband's parents had blood samples taken for testing.
9. They can test for chromosome abnormalities from the 12th week of pregnancy through chorionic villus sampling, or the 16th week of pregnancy through amniocentesis. The risk of miscarriage is 1-2% and 0.5-1% respectively.
10. It may be possible to avoid having pregnancies with chromosome abnormalities using pre-gestational diagnosis (PGD). He referred us to the PGD clinic in Glasgow to discuss this option. Only embryos without an unbalanced rearrangement are implanted.

Number 2 we knew before ever getting pregnant. Number 8... we knew that, we told him that! Apart from the statistics, numbers 1, 3, 4, 5, 6, 7, 9, & 10? My ob/gyn told us those. The only two things that letter told us that we didn't already know was that PGD does not just stand for pre-implantation genetic diagnosis, but also stands for pre-gestational diagnosis (which I feel is a mis-nomer, as what if no gestation occurs?) and that we were not referred on for IVF treatment until 21 July, over a month after our appointment. I'm not sure if it's protocol within the NHS, but it felt like a complete waste of resources. Well, not a complete waste...

He did give us one piece of information during the appointment that was nice to know. Alex was a girl. Alexis. ❣️