O FOLLOW-UP

We are at 18 1/2 weeks today.  Went to the high risk OB for an ultrasound and consult.  Baby girl is measuring in the 55%.  Today, the O looks "moderate," containing bowel and a small portion of the gallbladder and liver.  Her kidneys still look echogenic (bright), but they are normal in size, and her amniotic fluid is normal, so the doctor isn't worried about them.  We go back for another ultrasound at the end of November.  By then, the micro array to check for Beckwith Weidemann Syndrome should be back.   So we wait.   I originally thought the doctor was ordering micro array testing for a large range of genetic abnormalities, but he decided to focus in on BWS due to the cost difference of $2200 and because he felt the other was looking for a needle in a haystack.  I wish he would have consulted with us before changing the lab order, but I guess I will just have to trust his judgement on this one.

WHEN NEGATIVE IS POSITIVE

Our amnio results came back NEGATIVE, which is positive!  It means they did not find a chromosomal abnormality!  More tests to come, but this is a huge positive and quite a relief.  Fortunately, I had things to do today to keep my mind off the wait for results.  This morning I knitted.  This afternoon, I made a complete and terrible mess between patients at work.  We are going to a masquerade tomorrow night, so I was hot gluing feather and butterflies and sequined flowers to my mask--lots of fun!  Tonight, we will be going to the last Full Moon Pickin' Party at Warner Park.  Today we also found out my brother-in-law in D.C. got a new job with better pay today, so everyone is really excited for him.  Overall, today has been a great day!

I AM KIND OF IN LOVE...

Little girl at 17w5d

                                             

FISH RESULTS

We are still waiting on the full results from our amniocentesis, but we did the FISH, which gives preliminary  amnio results for detection of T21 (Downs), T18 (Edwards), and T13 (Pataus).  The results are supposed to be back in 24-48 hours, but I didn't get mine for a whole week.  I did finally get them on Friday afternoon, and baby girl is negative for the most common three chromosomal abnormalities, and this pretty much tells us they don't think she has a form of mosaicism of  those three as well.  Now we just have to wait for the results for the rest of the chromosomes.  If that comes back negative, then we will send out amniotic fluid and blood for the micro array test, which looks at more specific genetic information to look for possible syndromes we might be able to expect/prepare for.  Those results come back approximately one month after the specimen is sent out (which won't be done until amnio results come back).

In the meantime, I am knitting baby girl a blanket, something to keep my mind off the craziness and focused on the future.  I am listening to baby Mozart while I do it, which lifts my spirits and puts my mind in a peaceful, happy state of mind.  

OUR LITTLE ACROBAT

This is one busy little girl. She is crazy busy flipping up and down and twisting all over the place.  She is almost 17 weeks old.  Today was the first time her kidneys didn't look so echogenic/bright on ultrasound...so that boosted my spirits a lot.  I have an ultrasound scheduled at my high risk OB at the end of the month, so we'll see how things look at that appointment.  

Seeing her today totally boosted my spirits.  I am so glad I got to see her sweet face.

Not only is little baby girl growing bigger, so is her mom.

A-DAY

I had my amnio today.  It really wasn't a big deal.  No numbing or anything, just one stick.  The initial entry felt like getting blood drawn, then a quick jab through the uterus (doing it quick helps to make sure the amnion and chorion stay fused) felt like a menstrual cramp, nothing intolerable.  It was more scary anticipating it than painful.

Also, the doctor is finally convinced it is an omphalocele that our little girl is sporting, so...it's official.

FRIDAY IS ALMOST HERE, BUT MONDAY IS COMING...

I am looking forward to the weekend, as always, but I think I am looking more forward to a Monday for once, and that is because it's my amnio day.  The idea of an amnio used to scare me a lot, but now I just want to get it done and over with in hopes it will give us some more info (or rule out info) on our little girl.  I am also hoping the high-risk OB can give me their thoughts (hopefully not just bad ones) on her kidneys.  From what I can tell so far, her head and heart are looking good, but I know it's still early.  For me, the kidneys are the most worrisome right now, far more worrisome than her O. I am hopeful for now, because her kidneys are a normal size so far and her bladder and amniotic fluid look okay for now.   I know things can change at any time--even after she is born as far as function goes, but I hope I am just a paranoid mom and that all my worry is for nothing.

UPDATE:  The high-risk OB doesn't seem to be worried about her kidneys for now.  They really don't think anything is remarkable (other than her O) until she gets a little further along in gestational age.  I was disappointed they didn't at least try to look at her anatomy (like the heart) in a more detailed fashion, but I guess they are right not to get ahead of themselves.  Just because we can't see something at 16-17 weeks, doesn't mean we won't see something further along.  And first thing is first, get amnio results and go from there.
 

GROWING

Our little girl is growing so big.   Her "O" is still there, growing right along with her.  She changes so much from week to week.  She likes to have her chin tucked in, and the cord is usually around her head, so it's hard to get a good pic.

The thing that has me concerned right now is that her kidneys are echogenic (bright), and that's usually not a good thing.  I just wish we knew she was going to be okay.

MATERNAL FETAL MEDICINE APPOINTMENT

I went to see the high risk OB today, and she said it is still too difficult to tell for sure if baby has a true omphalocele or gastroschesis. They didn't utilize 3D if they had it, though, and I have seen the defect on 3D at work, and I am pretty sure it is an omphalocele.  I would be shocked but oh so happy if I was wrong (much less to worry about with gastroschesis).  She also said not to take too much stock in the results of the MaterniT21 test, because baby could have a type of mosaicism of one of those chromosomal abnormalities, where cells within the same person can have a different genetic makeup (abnormal and normal).  She said an amnio will be more informative.  I wish someone would have told me that BEFORE I took the blood test, as it is quite expensive.   There is still a pretty good chunk of it that insurance doesn't pay for.  Live and learn, I guess.   

She also tried to explain what I might be able to expect with possible outcomes upon delivery if we make it that far.  It was pretty overwhelming, so I will be glad to take Mike to my amnio appointment so he can maybe keep up better than I did. 

So, not much information today.  Next step, amniocentesis on Monday, October 15th.  Results usually take 10 business days.

Feeling kind of bummy today.  I feel like I am back at square one with no real info on our little girl.  It's all a wait-and-see type of thing.  My sister called me to give me a pep talk; it did help.