Monday, June 8, 2009

First Trimester Screening

Last Wednesday we had yet another doctor’s appointment.  This one was rather interesting (and VERY long).  It was called a “First Trimester Screening”

It started with an interview with a “Genetic Counselor”.  She asked all kinds of family history questions like “Has anybody in your family had a heart attack before 50” and “Does anybody in your family have Down’s Syndrome”.  After what seemed like a million questions – she broke out her book.

First – it covered all of the different types of genetic disorders.  Many of the genetic disorders can’t be detected during a non-invasive screen (like the first trimester screen), but there are three very unique (and scarily common) disorders that can tested with 95% accuracy.

They are Trisomy-13, Trisomy-18 (both a fatal) and Down’s Syndrome (which is really Trisomy-21).  Down’s syndrome is extremely common in AMA pregnancies.  I still laugh at the “AMA” which stands for “Advanced Maternal Age”!  But at our “AMA”, the odds of Down’s is on average 1 out of 49 pregnancies.

So after the interview with the Genetic Counselor, we had an ultrasound.  They took measurements of the fluid at the base of the babies head (along with the other usual “crown to rump” and heartbeat measurements) and checked for the baby’s nose (apparently the nose develops late in Down’s babies).

Then we went to the lab and had some blood taken.  That was easy enough – just a quick whistle and it jumps right out of the arm!

Then we had to wait for the results – which came back today.  And the news is good!  The odd’s of Down’s has improved to 1 in 1501.  And the odds of Trisomy-13 and Trisomy-18 have both improved to over 1 in 2000.

One last note – during the ultrasound, we got to see all of the usual movements.  Arms waving.  Legs kicking.  Heart beating.  And we got to see some new ones too!  Mouth opening (apparently, they start drinking some of the amniotic fluid).  And maybe the coolest thing was – apparently, the umbilical cord was bothering the baby.  It kept reaching up and yanking it out of the way!

Here’s a couple of pics from the ultrasound for you to enjoy!


Ultrasound 06-03-09-3 If you look close, you can see my ear, eye, nose, and mouth!


Ultrasound 06-03-09-5

Here I am with my mouth open!  You can see my nose and

hand.  And the “zipper” at the bottom is my spine!

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