12 weeks 3 days

Today I had another doctor's appointment. I had a first trimester screening performed. Since I have a relative with Down's Syndrome my OBGYN suggested this screening to identify the risks of certain chromosomal abnormalities like Down's Syndrome and Trisomy 18. It is a noninvasive evaluation which combines maternal blood tests and ultrasound. It is quite remarkable how far prenatal testing has advanced. This first trimester screening is 85% accurate. Many people think that the only way to determine the risk of chromosomal abnormalities is with an amniocentesis. We don't have any results yet but we already know the risk for us is relatively low. Many people are mistaken in their assumptions that risk of Down's Syndrome is primarily when the mother is older. There are in fact 3 types of Down's Syndrome--Trisomy 21 which is commonly linked to maternal age which accounts for 95% of cases; mosaicism which is a defect in fertilization representing 2% of cases; and lastly Robertson Translocation which is also a defect in fertilization but is hereditary from either mother, father or both this accounts for 3-4% of cases. I am not really nervous about the results. I know that either way Sean and I will love this child immensely and provide the best possible upbringing possible.

Below are the sonograms from the screening today. It was a wonderful moment. Due to the extensive use of ultrasound in this screening I was able to see the baby from all sorts of vantage points. I believe the technician printed about 14 images that the doctor will use in conjunction with the blood test to determine if we are "at risk." I am not entirely sure but I think I caught our little one sucking his/her thumb. I will keep every one posted on the test results.