Friday, October 11, 2013

A Little More Detail About Today

We were referred to McMaster University for a potential genetic disorder. Ian had a brother that passed away from what was believed to be Potter's Sequence. This is a label for some very rare issues that come up in pregnancy. The cause is unknown but usually the diagnosis has multiple factors, not just genetics. The basics are that the baby's kidneys do not develop. The amniotic fluid is resupplied after a certain week by the baby's urine. If the amniotic fluid is not resupplied it creates multiple birth defects. Unfortunately, the condition is not survivable. Needless to say, the genetic counselor was happy we were looking into this because of the history and fatality rate. We will have to do this for any future babies as well.

To get to the point, our baby most likely does not have Potter's. We had a high resolution ultrasound. The tech and the doctor confirmed the presence of kidneys. It was still too early to see some parts but most of the major organs were present. We will have to return in two weeks for a follow up. The doctor mentioned a "cool trick" that he has requested for my next ultrasound. The tech will shine a light near the kidneys and the blood flow from the aortic artery to the kidneys will glow. Basically, we are checking that the baby's plumbing is formed and functioning.

Here is how the baby was for most of the ultrasound. Face down, head is to the left, spine is up.


After Ian was brought in, the baby turned on its side and then face up. Same view, head to the left, spine down and possibly sucking its thumb. At one point it gave us a thumbs up. :)



Much to our disappointment, the baby did not cooperate and the tech could not see the gender. Of course, we are happy to have a healthy baby but we really wanted to find out! Hopefully in two weeks the baby will cooperate and we can start planning accordingly. 

Overall, we are very happy with the care we are receiving at McMaster. I'm relieved that while they are concerned about the possibility of Potter's, they are also looking at the general health of the baby. I had completed the testing through my regular doctor for Down Syndrome, Trisomy 13 and Spina Bifida but I had not gotten the results yet. The genetic counselor stepped out of the room and came back within a few minutes with the results - negative. It's just very reassuring.  

One note to make.. There were other couples seeing genetic counselors today that didn't seem to fair as well as we did. I'm so grateful that the results so far are positive. I cannot imagine what those couples are going through. Very thankful.
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