12 Week Scans & Trisomy 18

The idea of the 12 week scan is to check on the baby’s development at the end of the first trimester. In all honesty, my only knowledges and thoughts regarding the end of the first trimester were simply “good everything is progressing well now let the world know we’re pregnant”. What didn’t cross my mind was that something might not be ok.

In conjunction with the Ultrasound at 12 weeks the mother to be also has a blood test (Maternal Serum Test) that checks the various hormone levels in her body that help to indicate the baby’s health.

First off we had to find our way to the Wesley Medical Clinic which we had never been to before, add a lot of rain and you get lots of slow traffic and a couple of very wet parents to be. Little did we know that the amount of rain Brisbane was to receive would cause such huge flooding. We did mange to find our way there in the end.

To start the ultrasound session the sonographer started explaining that this was all about numbers and statistics. The chances of getting one syndrome compared to another etc. Much of what she said wasn’t filtering in one ear and then being quickly discarded through the other as there was no thought that our baby would be effected. So I started watching the sonographer point out parts of our baby on the screen (which was fantastic) and to add a little surprise to it she did some 3d scanning too!

After 15 minutes she finished the ultrasound and started typing away at her computer next to the ultrasound machine. The room had gone quiet with no one talking so I asked “so when do we find out the results?”, to which she replied “shortly, I just need to enter the results from the blood test.” Once again I thought ok no worries its just a bunch of numbers.

Then the sonographer started reading out a few statistics for the things they were testing. I didn’t think to much of it until she said “you are in the high risk category for Trisomy 18, so I’ll get Dr Charmody to have a talk to your in a minute.” All of a sudden I had gone from thinking this was just another test to “oh my god, what does this all mean!”

We were talking to a small briefing room where we had to wait a few minutes to talk to the Dr. During this time Fiona was starting to freak out a little bit and I was just trying to convince myself and her that if this was a raffle we wouldn’t win so there is no chance of being the one out of 230 that had Trisomy 18.

Dr Charmody explained that this is just a screening test and although we were in the high risk category that it was still only 1 out of 232 chance. He went on to explain what our options would be from here and that there is only really one way to find out for sure, and that was to perform an amniocentesis test. This test involves inserting a needle into Fiona and removing around 20ml of amniotic fluid from which they can test the baby’s genetic makeup. The test itself has a 1 in 200 chance of causing miscarriage so this also needed to factored in.

If the test came back positive for Trisomy 18 then it was explained to us that this condition also known as Edwards Syndrome was “not life compatible”. Most babies with Trisomy 18 don’t make it to full term or if they do then they have a short expected life span measured in hours or days. So not a good prognosis.

We decided we would have to digest all this information and have a chat to our normal obstetrician about it, but I think we both had already decided what path we needed to take. We booked Fiona in for the test on Friday the 28th of January assuming our obstetrician would agree that was the best way forward.

Now on a lighter note below is the 12 week Ultrasound picture and the 3D Ultrasound picture.

The top picture you can see the sonographer measuring the nuchal sack of the baby. This is part of the test for down syndrome (which has very long odds now of some 1 in 3522).