Wednesday, October 3, 2012

Tests for the Mature Female

13 weeks!
Wow, I'm 13 weeks today!  Seems just yesterday I was in for my first IUI.  Time passes so quickly.  But that's not the topic for today, hahahaha.  Today is going to be all about my 12 week NT ultrasound and other "old woman" tests.  I will have to come back to this topic here in a couple of weeks, and again in another 5 weeks, since these tests have multiple stages.  For now though, I will go over what I have been through and what I currently do know. So here goes, my 12-week NT ultrasound visit.  But first, here's your video for this entry, something to make you smile and go aw!
Too dang adorable!

Now that we got the cuteness factor out of the way...
To start with, not all women are awesome or privileged enough to be sent for a NT ultrasound.  Why am I so much awesomer than many other pregnant females you ask?  Because I'm old!  Not the wetting the bed and smell like I've gone bad old, but old as far as shoving a baby out my hoo-hoo old!  Basically, I'm over 35.  And with my "advanced" age comes a higher risk of having a child with genetic abnormalities and other such lovely things.  Mostly the worry factor is based on Down syndrome.  While I am at a higher risk for other chromosomal abnormalities and things like neural tube defects, Down syndrome is the #1 reason why these old woman tests are performed.
I'm up there at 1 in 174, yikes!

Now in the days of yore they used to send women my age for very invasive testing right off the bat.  The torture test of choice back in those days was the amniocentesis.  The purpose of this test is to detect chromosome abnormalities, neural tube defects, and genetic disorders with Down syndrome being one of the main focuses.  During the test the doctor jabs a big, long, spiky needle in through the woman's abdomen while trying to avoid stabbing the baby in order to extract fluid from the placenta that can be used for genetic testing.  Every once in awhile the baby doesn't fare so well and miscarriage occurs due to uterine infections, the woman's water breaks, and/or premature labor is induced.  Chances of miscarriage during this procedure runs anywhere form 1 in 400 to 1 in 200 depending on the source you read and the experience of the clinic performing the procedure.  While the test does have a 98-99% accuracy rate, the high rate of miscarriage is not exactly worth the risk to some women, of which I am included in that group.  Had I been breeding back in the olden days, I would have opted not to have this procedure and take my chances. But lucky for me this highly invasive procedure is no longer the first option for us older gals.

I should mention here that there is another frequently used, highly invasive procedure called chorionic villus sampling (CVS) that is used for the same purposes as an amniocentesis with the exception that it cannot detect neural tube disorders.  It's performed by sticking a catheter up through the hoo-hoo and cervix in order to draw a tissue sample from the placenta.  It carries with it an even higher risk of miscarrying, some reports are as high as 1 in 100.  Once again, I would never consider it an option as a first step procedure.  But luckily, as previously mentioned, this is also no longer a first-step procedure.

Either way, not a fan!

On the 26th of September I went in for what is now the first step in genetic disorder testing, the NT ultrasound.  The NT stands for nuchal translucency and the test is also oftentimes referred to as the nuchal fold test.  The purpose of the ultrasound is to measure the clear fluid at the back of the baby's neck.  A developing baby with abnormalities would have an increased amount of fluid.  A measurement of less than 3mm of fluid means the risk is very low.  No test is 100% accurate in predicting the occurrence of abnormalities and this is why the risk is deemed low and not non-existent, but overall the test is 90-95% accurate in predicting the risk of Down Syndrome and other chromosomal abnormalities.  My baby's NT measurement came in at 1.5mm, so whew, passed that part with flying colors.  I wasn't really worried that something would be wrong, but it was still a relief to hear that everything looked normal.

Besides measuring the fluid at the back of the neck, the ultrasound is also used to examine the presence of the nasal bones.  If nasal bones are not readily visible at this point, that also points to a higher risk of Down syndrome.  Three in four babies with Down syndrome do not have visible nasal bones at this stage.  As you can see from the pic, the nasal bones were easily visible in my ultrasound.  Once again, whew!
I think he has my nose!
Along with the back of the neck fluid and the nasal bones, the doc also showed me the heart.  While the heart wasn't quite large enough yet to clearly define all four chambers, it was looking right on target.  When I go back for my follow-up ultrasound in 5 weeks, the heart will be large enough to definitely see the four chambers and we will be checking to make sure all of them are there and functioning normally.  Additionally  we examined the brain and it was developing as planned and was cyst free.  A cyst in the blood vessels of the brain is another risk indicator of chromosomal abnormalities.

All in all, the ultrasound went very well.  I really wish the little one had been a bit more cooperative, however.  He wasn't as much of a camera hog as on previous visits.  We did get to see one of his little hands, and I swear it looked like he was waving...or maybe about to try and suck his thumb.  And after much patience, the doc was finally able to give us a shot of the little guy's feet, well at least one foot.  It seems my little one was more interested in being cozy than being a performer.  Which is a shame because we really didn't get any good pics.  The one above is the best one we received.  Then again, this appointment was not about a photography session, it was all about making sure he was okay and out of clear and present abnormality danger.

With that said, my tests are not completely finished.  I still have some blood work being run at the lab.  There are two biochemical tests being run on my pregnancy hormones.  One is the PAPP-A or Pregnancy Associated Plasma Protein-A.  The other is a free beta-hCG (human chorionic gonadototropin) test.  Both these are hormones released by the placenta.  If both these hormone levels are deemed favorable, then once again my risk factor for any abnormalities is diminished.  I should  be getting the results of the blood work back next week.  I'll give an update on the results as soon as I receive them. 

After I receive the blood work results, if anything raises a red flag then I will be given the option to move on to an amniocentesis or CVS to definitively determine if my baby has a chromosomal abnormality, or I could simply opt for a new blood test that is being offered that is up to 99% accurate in detecting such problems without becoming too invasive.  I do not think I would risk miscarrying the baby, so I would opt for the blood test.  Now if that came back negative, I think I would still not opt for the invasive procedures.  If I had a child with Down syndrome or other abnormality, I would love them just as much as I would a perfectly healthy and normal child.  I would not want to risk my pregnancy or be faced with the choice of terminating the pregnancy.  I would rather take my chances and love my child no matter what.

I'll wrap up with a bit of disappointing news...I did not get to find out the sex of the baby during this ultrasound.  Boo!!!  I know it is a bit early, but sometimes at these scans they can determine the sex by examining the angle of the genital tubercle (aka nub).  Basically boys and girls look about the same in the genital region right around this time.
Left is Male and Right is Female
As you can see from the pic, the two are almost identical at this stage of development.  During the NT ultrasound, oftentimes if the baby is in the right position and is far enough along in development, the doc may be able to determine if it's a boy or girl based on the angle of the dangle of "the nub." To make it short and sweet (or if you want more info go here), in males this nub points more vertically and in the female it lies more horizontal to the body.  Unfortunately what needed to be seen could not be seen during my ultrasound, so I will have to wait till I go back for follow-up tests on Halloween to get a gender determination.  I'm still thinking it's a boy, however, which is why I often refer to the little one as a he.  I'm sure you all have noticed this by now.

On that note, I'm thinking about making an entry all about the many gender prediction tests and old wives tales regarding gender that are floating around out there.  I will need to be a bit further along, so most likely this entry will fall around my 16th week.  Then we can all compare the results with the actual sex as should be determined during my 17th week.  Exciting stuff on the horizon, so stay tuned!

Stay tuned to find out!

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