Time to let the world know!

Normally most parents to be would wait until the 13 week scans and test are done before announcing their pregnancy. Well that’s the plan anyways, with our 13 week scans we were placed in the high risk category for Edwards syndrome which normally ends very badly for the unborn child. So we decided to only let very close family know and a few people that accidently found out.

It is to this regard that we apologise to the rest of our family and friends that we couldn’t let you know any sooner. Now that we have the results back from our test and we have been cleared of Edwards syndrome we will be letting everyone know ASAP!

Results are in…

Although I didn’t think I was too worried about the Amniocentesis test, last night I couldn’t sleep and was starting to have a few panic like attacks falling asleep finally around 5am. Subconsciously I was obviously very worried and trying to prepare myself for some bad news.

After waiting all day I couldn’t wait any longer and at 2:30pm I rang the doctors office to see if by chance they had the results but hadn’t rung me yet. To my disappointment the results were still not in. The receptionist told me that the results normally came in closer to 5pm. How could I bare to wait another two and a half hours, but wait I did.

At 4:15pm my mobile rang, it was Dr Carmody’s office ringing to inform me of the FISH results. “All results are normal, there’s two of everything” the voice said over the phone. Instantly my eyes started to water and voice become a little croaky as I was overwhelmed with relief. I really didn’t think I was react that way. The news that your unborn baby is well and trouble free is some of the greatest news I think you can receive.

Once I pulled myself together I rang Fiona, as I had always planned to do if the news was good. I could hear the relief in her voice as she said “Thank God for that.”

The final results will be in 7 to 10 days once the cells have been grown in the lab and other much rarer defects checked but with 99% accuracy we can say our baby is free of Chromosome 13, 18 and 21 defects.

Full speed ahead with the pregnancy now!

Amniocentesis Test

Up bright and early at 5:45am for a 7:30am appointment with a long needle. Well at least Fiona was, I was up just a little bit later but still very early. We were on the road by 6:30am leaving what I thought was plenty of time to make the 25km trip into town for the Amniocentesis. Turns out I was wrong. The traffic leading into the city was heavy at 6:30am and this wasn’t even the main arterial road!

Needless to say we arrive 15minutes late and then had to wait a little while whilst we were slotted back into the regime. Donna, our sonographer started explaining how proceeding were going to take place for the test and what the tests were. Much of this information I had already learnt from our previous visit or the internet but I did pick up a couple of extra things.

The FISH (Fluorescent In Situ Hybridization) Test which marks the chromosomes with a fluorescent dye is used to get a quick result (normally within 24hrs) for the most common chromosome problems (trisomy 13, 18 and 21) plus the x & y chromosomes (these determine the baby's sex).  As our test was done on a Friday we I should get a phone call on Monday with the results.

After the FISH Test is done the lab grows the cells for a few days in order to test for all the other chromosomal defects and some 10 days later we should have the results of this test too.

After everything was explained and Fiona had signed to all important consent form, another ultrasound is performed. At this point Fiona is a little over 15 weeks pregnant and the baby has grown substantially in just 3weeks since the last scan. The baby is now almost 10cm from crown to rump, up from 6.8cm 3 weeks ago. For the first time was also started to see well defined fingers and toes on the baby as well as long legs with well defined bones in them.

In the picture above you can just see two hands with little fingers.

In the picture above you can see the long legs to the right on the scan with the baby laying on its back.

Along with these photos with also have another 3d picture, this time the baby was playing a little bit of hide and seek so the best shot we got was of its hands together, shown in the picture below.

With the test now completed, Fiona needs to take it easy for the rest of the day and just keep an eye on herself in case she springs a leak (a bit like in the cartoons where the character is shot and then drinks a glass of water and it comes out of its stomach, or at least that’s the image I have in mind).

Assuming Fiona doesn’t spring a leak or get an infection or has any other issues over the next 48hours all we can do is wait for the results on Monday.

With Fiona working on Monday we opted for the results to be phoned through to me so if the news isn’t good at least Fiona won’t have to deal with that whilst she’s at work and can come home and find the news out when I’m around to support her. Of course the flip side of that coin is that I will have to cope with the news by myself until she gets home. But if you are a glass half full type person then all this worry is not needed as everything should be fine with the odds being in our favour for sure.

So for now, I guess we wait…

Trisomy 18 (Edwards Syndrome)

Since the 12 week scan back on the 7th of January I’ve been looking into Trisomy 18 on the web and found a fair bit of information which helped to reassure Fiona and myself that we are doing the right thing by getting the Amniocentesis  Test done.

The biggest problem with Trisomy 18 as I see it is that it is known as “not life compatible”, meaning that if the baby survives long enough to reach full term then its life beyond that is very short and full of challenges that with out a lot of medical intervention would still only prolong the babies life for a short period of time.

There are 3 variants of the Trisomy 18 syndrome that vary the complications a little but on the whole life will be difficult to maintain. Some babies with mosaic or partial Trisomy 18  may live into their teens but normally with lots of medical assistance along the way. The most common form of Trisomy 18 is full Trisomy 18 and that is where most of the time the baby is either still born or lives for one or two days.

Support for this syndrome and information on it has only really come to light over the last 10 or more years. Below are a few links I found useful when looking into this terrible genetic disorder.

• www.trisomy.org

•  www.trisomy18support.org

• Rainbows Down Under

• www.geocities.com/wilsfordmindy

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).