I started trying to have children when I was 32 years old. My first and third pregnancies ended up in miscarriages at 11 weeks. I gave birth to a beautiful baby girl at the age of 33 and a beautiful baby boy at the age of 36. Both of these children had medical issues with their having inherited my Crouzon Syndrome (see my website - Jenny's Story: My Life with Crouzon Syndrome), so we were happy with our family. We were not going to have any more children....until a moment of cluckiness hit me when I was 39. I saw that big 'four o' coming and in a moment of weakness went off the pill. After the first month I thought I was mad and was waiting for my next cycle to come to go back on it. But things were taken out of my hands as I was pregnant!
Once I got used to the idea I was ecstatic as was my husband. I had my first ultrasound at 6 weeks as I thought I was miscarrying. Expecting the worst but receiving the best news - the baby was fine. The next ultrasound was at 9 weeks - everything looked good. This was followed at 13 weeks by the nuchal translucency ultrasound. This scan gives an estimate of risk for DS based on a measurement of the thickness of the fluid-filled space at the back of the baby's neck, as well as the mother's age and the stage of pregnancy. It detects around 60-70 percent of babies with DS and may indicate other fetal abnormalities. Now of course I had a high risk of DS being 39 years old (the risk is considered to be 1 in 100). This is due to the aging eggs.
The baby had this thickening and the first question asked was "Do you know that you have a high risk of having a Down Syndrome baby?" My response "Why? Does the baby have the thickening?" To which the response was, "Yes". Now based on that fact any other couple would probably have been told that they have a high risk of the baby having DS but in my particular situation this was not the case. My other two also were considered to have DS too at this particular scan, but do not have Downs - instead they have Crouzons. So we had heard this news before so the technician thoroughly checked for other signs of Down Syndrome but could find none i.e. heart defects and the bones in the nose, fingers and legs, so we went home with the thought that there was a strong possibility that the baby had Crouzons (no thoughts of Downs whatsoever). We were disappointed, but really happy that the baby was doing well - and it was very early days. The next scan at 23 weeks showed no conclusive indication of Crouzons (Downs was not mentioned). The final scan we had at 28 weeks showed that the eyes were very slightly wider apart then average and were slightly more prominent then what they should have been - there were no other indicators (Downs was not mentioned). So we went into the birth presuming that the baby had a mild form of Crouzons.
Interestingly enough I found out at my 6 week post check up that with the results of the 13 week ultrasound and blood test, that I had a 1 in 5 chance that the baby had Downs. But the obstetrician did not tell me. I am suspecting that he didn't tell me because there were no other indicators of DS on the ultrasound and he knew my position on abortion - I would not have done it. I would though have most likely spent the rest of the pregnancy worrying and stressing out.
In between these times I had a wonderful pregnancy - the healthiest and easiest pregnancy out of the three. I thoroughly enjoyed being pregnant and lapped it up as I knew this was going to be the last time.