not exactly what we were hoping for

***warning - this is long***

abbreviated version =
Caden was confirmed to have Trisomy 18
His chromosomes actually were 48 xxy meaning a double aneuploidy
I most likely will not have any more biological children

long version =
The day I had been waiting impatiently for over the past month finally arrived and I was so incredibly nervous the entire day. I had been counting down literally the hours and minutes until I could get some answers. But I felt ill with anticipation. On one hand I was desperate to know the answers and at the same time I was dreading what I would hear. I had many thoughts during the morning and I wish I had thought to write them down because I remember nothing of that morning.

We arrived at the hospital just in time for our appointment and Dr P was waiting for us (The head of obstetrics at the major hospital in our city). We waited a few minutes while he paged Dr JT (the doctor who informed me of Caden's death and performed the ultrasounds that day).

Dr P started off by saying "There are four things we look at in this appointment."
(1) What happened to the baby
(2) Was it preventable
(3) What are the implications for the future
(4) How will we manage the next pregnancy

He started by looking at the pathology reports and saying "the baby was very small (duh) and so was the placenta." He started talking about nutritional issues (as in the placenta was too small and therefore the baby was IUGR)

I don’t remember all that much of this part of the appointment as I started getting really agitated and had a mild anxiety attack, feeling like I was going to throw up. JT left to get me a glass of water. I started freaking out internally, thinking he was trying to tell me that Caden had died because of IUGR. If this had been the case I would have been virtually homocidal as I had tried to get the attention of all of my caregivers to pay more attention to the risk of IUGR and they did nothing. I really don't remember all that much and I wish I had the forethought to take my digital recorder to record the conversation. It felt like he was talking for at least half an hour, but looking back it may have only been 5 or so minutes. Kim has no real recollection of this time either.

Eventually JT mentioned something about markers and I started to feel a little relief. Dr P pulled up the chromosome reports and said "Oh it does look like your baby never had a chance, he had a chromosome problem" and I said "Trisomy 18".

He looked a little taken aback, and I for the first time felt true relief and smiled. I said "I knew it, in the back of my mind, since his 20 week scan."
"Why was that?"
"First because of the choroid plexus cyst in his brain, also I saw his size, and the fact that he had clenched fists - which he was also born with"

I brought up the fact that I had a 'negative' result for T18 on the nuchal translucency and blood tests, and he commented that actually, my HCG levels were actually quite low (indicating a problem) and that my risk of T18 at 1:1655 was not really a negative result as normally at my age they would expect over 1:30,000. This was a huge eye opener as I kept being told my risk was low, which is what had made me doubt my own self diagnosis of T18.

He then gave a quick run down of how the Trisomy occurred – all of which I knew. He asked what I was studying at university, thinking I was doing medicine or nursing. I laughed and said “actually I’m studying architecture and digital media.” I totally respected him for not dumbing down his answers to me.

As he was running through the brief introduction of the meiosis process (which I am well familiar with, having tutored high school biology for a few years) he looked at the report on the computer and seemed surprised. He informed me that Caden’s chromosomes actually measured 48xxy, meaning a double aneuploidy.

A ‘normal’ person has 46 chromosomes. A person with a Trisomy has 47 chromosomes. Where you normally have 2 of each chromosome, a Trisomy baby has 3 of one chromosome. Caden therefore had TWO anomalies, both Trisomy 18 and the sex chromosomes. From what I can gather from articles in medical journals, this is a very rare occurrence. So the final dignosis is Trisomy 18 and Klinefelter syndrome.

Answer to number (2) is that no, it wasn’t preventable. Dear Caden never stood a chance. However. Dr P did go on to say a few times that it is absolutely appalling that a 1500g baby made it to 37 weeks with no care provider picking it up, and he apologized for this. I told him about the awful ‘care’ I got from the doctor I was seeing at the other hospital. He knew her name, and I’m hoping that she will get some kind of reprimand for her behaviour (but somehow I doubt it).

(3) the implications for the future are kind of unclear. If Caden was a ‘simple’ trisomy, my risk would have increased to about 1%. Still sounds ok, right? Well if you consider the ‘normal’ risk is about 0.000003% it looks a little different doesn’t it.

Of course, this is not the only problem. The fact that he had a double aneuploidy signifies a more significant segregation defect in the meiosis process.

The problem is a maternal issue. This issue lies in my eggs. There is no way to test whether this will reoccur, as they would have to test every egg which is, of course, impossible, especially as we know, because there is no telling which egg will be released when I ovulate.

Dr P says the only thing to do is try again, and basically hope for the best.

(4) they will manage me very differently next time. I will be classified as high risk. They will do the same screening tests as they did this time, but will pay far closer attention to the results. I will be offered invasive tests, but Dr P does not suggest the amnio/CVS if I would not terminate, as they carry a risk of miscarriage. He would do them though, if I wanted.

I will see them more frequently, and their main aim will apparently be reassurance. Basically, if it makes me feel better they will do an ultrasound every two weeks at each appointment to make sure everything is okay. They also prefer to induce labour as early as possible. I will probably be induced around 38 weeks.

stay tuned: tomorrow = so where do we go from here?