The ultrasound was pretty standard, except I asked specifically to see the display if she managed to get a good shot of his genitalia, since I've been going by the word of the previous technician. I did see a protrusion, so this ultrasound technician said she thought it was a boy too. So we're still going with that. :-)
The meeting with the genetic counselors (1 counselor, 1 intern) came next. They asked a whole bunch of questions regarding my family health history. We've all been pretty lucky - all of our family members have been pretty health. No major health issues on either side.
Before I start on results, it turns out the midwife accidentally gave me the nasal bone thickness instead of the nuchal fold thickness last time. The 20 week nuchal fold thickness (NFT) was actually 6.2mm, not 6.66mm (the cutoff for normal is 6mm).
Then they showed me all of the diagnostic information from the ultrasound I had just completed. Everything looked normal. Everything. Even the NFT, which was 5.4mm. They said the additional fluid probably had just reabsorbed back into the neck. If this would have been the ultrasound results 3 weeks ago, I wouldn't have been sent to McMaster at all.
However, they said they can't downplay the risk, because the results came in above normal on the 20 week u/s from a trustworthy lab.
Next came the stressful part. They explained that the risk of having a Down Syndrome baby for a normal 29 year old is 1 in 920. Because of the additional nuchal fold thickness at 20 weeks, they increased the odds for me to be 1 in 50. That frightened the hell out of me. It sounds so much better when they said we have a 98% chance of having a perfectly healthy baby.
They also asked me if we would do anything differently with the pregnancy if we knew the baby had Down Syndrome. I said yes, as Ryan and I had both talked about it and agreed we felt it was unfair to knowingly bring a baby into the world that would be dependent on someone for the rest of their life, and/or have a series of health problems.
After hearing that, the counselors started talking to me about having an amniocentesis. I had read about it prior and was convinced I would be ok with having one. The trouble is that I'm so far along that they said they're less worried about a miscarriage and more worried about pre-term labour. Our son is technically considered viable as of next week, but a 24 week old baby would be riddled with health problems since he would be so underdeveloped. Personally, I feel that losing the baby would be easier to deal with than having a severely premature baby with a ton of medical issues.
Anyway, I told them I needed to talk to Ryan before I made my decision and they left me alone with my mom. My mom and I talked for a bit while I tried to get a hold of Ryan, who was also in a medical appointment in London for his contract extension. We just started to talk facts.
1. There were no issues found in the IPS Screening (12 week ultrasound & blood test + 16 week blood test)
2. We have no history of Down Syndrome or any birth defects or any other serious health concerns
3. They only found the one soft marker on the 20 week u/s
4. Age is on my side
5. The 23 week ultrasound results were all normal, including the NFT
I started to doubt that I wanted to risk having the amnio, even considering my increased risk of Down's. If I went into premature labour, I would be directly responsible for my baby's health problems... Even if I did want it, they would also have to rush the amnio and the results. If anything came back positive, I would have until Sunday to have a surgical procedure if I chose to, as they don't perform any "interruptions" past 24 weeks in Canada. Anything past Sunday and I would have to go to the US for the procedure.
I continued to feel like the amnio wasn't the option for me but luckily I finally managed to get a hold of Ryan, mid-medical appointment, and told him quickly the same facts and risks. He said that he thought (for the same reasons) that we should take our chances. We both agreed that it seemed more likely that we'd have a healthy boy.
The doctor and the genetic counselor came in at this point. The doctor was very nice and went over what the counselors had told us. I informed the counselor and the doctor of our choice to decline the amniocentesis, with my reasoning (to better justify it to myself, anyway) and the doctor said he thought I'd made a reasonable choice.
Now I have go back for another ultrasound at McMaster on September 14, bright and early, to look for issues with his heart or bowel, followed by another talk with the doctor. If they find any issues at that point, they will strongly recommend me having the baby at McMaster, as they are better equipped to deal with high risk births and complications. If they don't see any issues then, I can have the baby at Grand River Hospital.
That pretty much ended the conversations this morning. I don't think I feel a whole lot better about the whole situation, but at least we've made our choice.
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