There are lots of tests you have when you are pregnant. I had my 12 week ultrasound last Friday along with the associated blood test. Every thing seemed fine. The baby had a good heartbeat and we were pretty happy about it all. So we went and told everyone. Yesterday I got a call from my GPs office, they had the results from the blood test and my doctor wanted me to come in and talk about them. So after a sleepless night I trundled off the doctors today, telling myself that it was probably nothing to worry about. I was wrong. There are three trisomy disorders that they check for. A trisomy disorder is where there is an extra chromosome on one of the 26 pairs we all have. The most common and most well known is Down's Syndrome. Two of the three were fine but one isn't. It is just a screening test, they are just looking for women who need further testing. The results come in a ratio. My risk of the baby having Down's is 1:3000+ which is good. But the one that is a worry is Trisomy 18 or Edward's Syndrome. My risk went from 1:300+ for my age to 1:88 because of a particular protein marker in my blood. 1:88 is not good. I have been referred to the Natal health unit at the hospital. I was totally spun out by the news. I walked out of the doctors office feeling like I needed more information. I am a librarian, finding more information is always what I do when something happens. So I went and searched Edward's Syndrome. The more I read about the Syndrome the more upset I became. It is bad, it is almost always fatal. 90% die in uterus before birth. Of the 10% that survive to birth 50% die in the first week, 90% in the first year. Their life expectancy and quality of life if they do survive is pretty bad.
The more I read about the testing the less stressed I became. It was just a screening test. It just tells me that there is a risk not that there IS a problem with the baby. An amnio will diagnose the condition and tell us for sure one way or another. So for now it is just a case of waiting. Very tense waiting but just waiting.
I just realised I never followed up on this story. I had the amnio, there was nothing wrong with my baby boy (yes we found out). He is now a very healthy happy baby :-)
