The purpose of this test: to screen for the risk of possible chromosomal abnormalities (primarily Down syndrome {trisomy 21}, trisomy 13, and trisomy 18).
During the sonogram, they measure the nuchal translucency...which is a small fluid-filled sac found on the back of a babies neck between 10 and 15 wks gestation and it is normal). However- it is normal for it to measure between a 1 and 2...which is average. And depending on where you get your information: 3 to 3.5 is the cutoff...meaning...definite increased risk of having a baby with some type of chromosomal abnormality.
They are also looking for the presence or absence of a nasal bone...and they also listen to the heart and get the rate.
Then- they take your blood...and are measuring the levels of the free beta hCG in your blood and PAPP-A (pregnancy associated plasma protein- A). I don't know much about these levels...but I do know that you are wanting them to be "average".
We had this screen done with Parker, as well. At that time- (I was much younger and unwiser) I mostly wanted to do it for the sonogram...to be able to see my baby an extra time. And also- with Geoff being adopted...we know very little about his gene pool. I wasn't really that worried about all of the different possibilities of things that could go wrong with our baby back then. Anyway- her screen came back normal...it was a negative result meaning: she had a low risk of having any chromosomal abnormalities. So that was that...and 6 months later we had a healthy baby girl.
Unfortunately- our fate would prove to be different the second time around.
I already had an uneasy feeling that something could be wrong with this baby. Call it mother's intuition...but really- I just call it "being a nursing student where you hear about everything that can and does go wrong in pregnancies and babies and kids...to where you begin to think that no baby could ever be born healthy because of all the kagillion things that could go wrong."
I try not to listen to that voice too often because it could really drive a person insane. Seriously.
But nevertheless...during the sonogram- they did see a nasal bone...this is a GOOD thing. From what I have heard/read....the absence of the nasal bone can be a marker for Down syndrome.
Also- it had a very strong and good heart rate at 158 beats per minute.
Another marker for chromosomal abnormalities or heart defects...is that of a thick nuchal translucency sac. And if you remember from what I just wrote above (it's kind of hard to keep it straight sometimes)...normal is between 1 and 2. Well- this little darling's measured in at a 3.2. That's pretty thick.
This immediately raised questions in our minds, but the perinatologist explained it as being "above average", but below the cutoff of 3.5... and was basically saying the chances of our baby being completely healthy were still really high. So we put this information in the back of our minds. At least...we put it in the back of our minds for about 30 minutes or so.
We visited my OB afterward for my 4 week (I was 12 weeks but we visit every 4 weeks right now) check-up and talked to him about it some more...and he offered us basically the same information and told us not to worry yet- that we really needed to wait until the blood tests came back (which takes about 6 days).
We kind of lost it on the way home. I don't know if that is just how long it took for it to sink in, or what...but the news was upsetting. Something could possibly be wrong with our child?
So we waited for the results. Meanwhile- trying to move on with our lives...be good parents to Parker...realizing that worrying isn't going to change a thing...put our faith in God...and waited.
The phone call came this past Monday. The results came back as a positive screen. Meaning: our baby has an increased risk of having a chromosomal abnormality...and in our case...they have pretty much ruled out the trisomy 13 and 18...but rather- there is an increased risk for Down syndrome. My hCG levels were in the 50th percentile (I'm not sure exactly what this means...but it is GOOD to be in the average range). But my PAPP-A was in the 20th percentile...which is low...and yet another marker for Downs.
So- let me try to explain....
For my age (I am 29 years old)....the odds of having a baby with Down syndrome should be about 1:1000. But for this baby...our odds are increased....they are increased to 1:276...about a 3% chance.
The odds. What do they all mean? I mean- really? I can repeat this stuff to you verbatim as it has been told to me...but my brain can't really wrap my head around these odds. This... increased risk.
I have read/heard...that most of the positive screens turn out to be false positives. Meaning: most of the people who get a screen with an increased risk turn out to have normal and healthy babies. However...at the same time...I hear the doctors telling me there is only a 5% false positive rate. Well...I may not be a mathmetician...but I know that 5% is not most.
We have decided to have an amniocentesis done at 16 weeks...which is about 3 weeks away. More waiting. But this test is 99.9% accurate...where we can get a definitive answer...and we will no longer be playing the odds.
So we will wait again. Wait until the date of the amnio...and then wait again for the 10-14 days for the results.
Most days I am fine. I live my life like the baby in my belly is healthy.
And then I have my moments where I lose it. I don't know what specifically I am crying for or about...but usually once I get it out of my system, I can move on.
I know this isn't the end of the world. Life goes on. We have a wonderful support system and family. And the truth is...right now...we just don't know.
So we take it day by day. We wait. Learning to put our faith in Him more and more. Trying not to ask why. Finding comfort in knowing that whatever will be is His plan and that He will provide.
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And in conclusion...here are the pictures they gave us of the baby from that day. They are both profile shots and pretty clear pictures. The first one you can see the baby's whole body (head on right)...then the second one is a close-up of the head.
ALSO....the doctor told us that he was 98% sure that we're having a little girl! It is still early...but those are pretty good odds (for lack of a better word)...and although we are not running out and buying stuff for another girl (which we really wouldn't anyway since we already have a girl plus a girl cousin)...we're calling it a "she" until we are told otherwise! We really don't care if it is a he or a she...we just want a healthy baby. And I've never meant that more than I do right now.
5 comments:
Wow...I am sitting here fighting back tears as I read your latest two posts. I can't imagine what you guys are going through. I will be thinking about and praying for you!
Congrats on the house!! I know it is bitter sweet! Can't wait to see the new one!
I love your concern but so thankful you are trying so hard to
leave it in the Maker's Hands. He
know it all and honors your trust in Him. Love you all,
granny
We are praying for you and your sweet baby. The hardest part is the waiting, please let us know if you need anything.
We love you all so much and you are always in our thoughts and prayers!
Thank you for sharing your personal journey. No baby could be more loved and prayed for than right now. Isaiah 55:8-9
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