Thursday, June 9, 2011

NT Scan & Trisomy 18

Well here we are again! Sorry for the space between the posts, but there hasn't been a lot report the last couple of weeks. Which I suppose is a good thing, the first trimester is over and done with, and the morning sickness has started to subside...slowly but surely. And for once I'm happy to eat, not just eating to keep us nourished.

We had another doctor's appointment on June 8th at Mayo. We decided it would be a good idea for John and I to have the First Trimester Screening done for Down Syndrome. Since neither John, nor myself know what our biological family medical histories are we opted for this screen.

It's called a NT Scan. Essentially it's a test that is done with an ultrasound and a blood test, and based off of the fold of skin at the back of the neck and the fluid there, they measure it and if there is just a small amount then it's an indication that baby is doing fine, if there is a large area of fluid then it's something to be concerned about. The blood test just measures the proteins and other areas of interest and makes sure there isn't something strange going on.

The other exciting thing, is that we had another ultrasound done! It was intresting to say the least, the baby in my stomach actually looks more like a human then the previous ultrasound where its a cross between a human and a tadpole. Our kid was more content to sit upright with its head resting looking down, and did that for the first 10mins that the ultrasound tech was trying to get it to move onto its side so it would be easier to get a measurement of the neck. She had me flip on to my hip, and then my other hip, and then cough, and then back on to my back, and still the baby refused to switch positions, she then stepped out of the room, and asked me to get up and move around hoping that would make the switch, so I stood up did jumping jacks, and paced the floor, and got back on the table, and we began again.

Well, once the ultrasound picture came onto the screen, it was apparent the baby had moved, but the problem was that it was now head down and feet up, so essentially standing on its head! Again, not what we wanted, so the routine was started all over again, up down, side to side, walk, back on the table, and still nothing, finally after digging to my stomach area, the baby made a half turn and by some miracle the baby's neck was able to be measured! The measurement came in at 1.1 millimeters very, very small! Praise The Lord!

Essentially, I'm 33 years old, and the stats state that my chances of having a child with DS is 1 out of 320 births. In this case, the results you are looking for are the denominator being large. Our results indicated our chance of having a child with DS is 1 out of 10,000. So that is a great number to get back, had the denominator been smaller (i.e. 1 out of 75) then the next test would have been an amniocentesis.

As part of this test as well, they also checked us out for Trisomy 18. (Thank you Wikipedia)  Which is:

Trisomy 18 (T18) (also known as Trisomy E or Edwards syndrome) is a genetic disorder caused by the presence of all or part of an extra 18th chromosome. It is named after John H. Edwards, who first described the syndrome in 1960.[1] It is the second most common autosomal trisomy, after Down Syndrome, that carries to term.
Trisomy 18 is caused by the presence of three – as opposed to two – copies of chromosome 18 in a fetus or infant's cells. The incidence of the syndrome is estimated as one in 3,000 live births.[2] The incidence increases as the mother's age increases. The syndrome has a very low rate of survival, resulting from heart abnormalities, kidney malformations, and other internal organ disorders

If a child is born with this they won't live long after birth, and our results came back with less than 1 in 100 chance that we would have a baby that has this. That is the normal result when there isn't an issue, as far as what Dr. Johansen said. So we are in the clear for that! Yea! 

So now, we wait again and continue to bake, I've started to "pop" and now can see the beginning of a pregnant belly, which is exciting, and I'm looking forward to July 14th,  that is our Anatomy Ultrasound, and we are very excited about that. But until then, here is a blurry profile pic of our baby! And I'm craving a bowl of ice cream, so I'm going to go have one! Ahh...the perks of eating for two!