MaterniT21 and Me

So about three weeks ago we had our 20 week anatomy scan on the spawn. When my midwife gave me the ultrasound requisition form she had checked "suspect fetal anomaly" but she told me that they just check that so that insurance has to pay for it, not because they had any reason to think something was wrong. No one goes in for their 20 week scan thinking that something is wrong. They go in all happy and excited to see the baby and find out if it's a boy or a girl (or not, whatever your pleasure).

So Jeff and I went to the ultrasound and we found out that it's a boy. They also found out that he has a single umbilical artery, normal cords have three vessels- 2 arteries and a vein. Well Liam has one artery and one vein. Apparently it's not terribly uncommon and they recommend having two additional ultrasounds in the third trimester to make sure there is no growth restriction. My first thought was, "Well, I had a 10 lb 4 oz baby the first time, maybe a little growth restriction would be alright!" The SUA is also apparently a soft marker for other abnormalities and genetic conditions so they did an extremely thorough scan of all of his organ systems to check for other anomalies. They found no specific birth defects. Finally at the end of the scan they explained that when they did all of the physical measurements, his femur came up short in relation to his head size. Another soft marker for Down's Syndrome. They recommended that we talk to a genetic counselor about the findings.

After much back and forth in my mind we decided to see the genetic counselors. My arguments with myself were:

• All of his measurements were within the normal range except for his head, which was in the 91st percentile, so basically his femur was normal length and he had a massive head. I have a massive head. Jeff has tiny T Rex arms in relation to his height. He's probably fine. 
• Even if he does have Down's, he has no physical birth defects (heart, bowel, etc) beyond whatever mental deficiencies might exist and I wouldn't terminate the pregnancy because of that so why bother?
• I will not do an amniocentesis because of the risk of miscarriage, however small it may be.

So basically, I just asked Jeff, do you want to talk to them? He said yes, so I made the appointment.  

So we went off to the far off land of Beechwood to talk the the UH Genetics department. Basically, we talked for awhile about what the realistic odds of Liam having Down's Syndrome were. I did not have the quad screen done so they estimated my starting odds based on my age at about 1/890. Two soft markers on the ultrasound moved the odds to about 1/560 or about 99.5% probability that everything was fine. Then they went over our family history, no genetic conditions except Marfan's Syndrome (which they now want me to go get another echo, even though the one I had six years ago was fine). Then they told us about a new way of testing the unborn for chromosomal anomalies called MaterniT21. Basically, there are pieces of his DNA floating about in my bloodstream and this test separates the fetal DNA from the maternal DNA and then runs standard genetic testing on it. The only downside of this test is that it's new and it's still expensive after insurance. With our insurance plan, they said it would cost no more than 200.00 but it's non invasive, no risk of miscarriage and would give us a definite answer rather than a probability. 

We thought about it for a few minutes before deciding to go ahead with the test. Even though I had no intention of doing anything other than preparing for a special needs child if the results came back positive, I had no desire to continue torturing myself with "what-ifs" for the next 4 months. So the vampires took my blood, sent it off and told us they would let us know in 7-10 days. 

Well it's been a long 13 days (9 business) but the results finally came in this afternoon. Liam is fine. He has no extra chromosomes (21, 18, 13, X or Y) and he is definitely a he. Now all I have to do is relax and make sure he continues to grow on pace with that massive head!