Tuesday, May 27, 2008

No FISH Today

FISH results were supposed to be back today - by 10AM. 10 AM came and went - no results. I called the genetic counselor at the clinic and was informed that the lab is in New Mexico and their system says my test is still "in the lab." I called back at 3PM - still no results. This was only supposed to take 48 hours but we had to wait until today due to the holiday weekend.

The genetic counselor just called. Apparently the lab did not have enough of a sample to get FISH, the quick results that reveal Downs Syndrome and a few other common syndromes. The genetic counselor said the lab will not sacrifice FISH results for the full battery of test/results, which include any chromosomal abnormalities that would have been included in the FISH results. So, we'll have to wait the full two weeks for any answers. I'm not very patient when it comes to these things. Sigh....

Friday, May 23, 2008

A Small Bump In Road

Our OB offered us non-invasive screening for Downs Syndrome. I am only 33 so he did not push it at all but left the decision and option completely up to us. We decided to go through with the screening, anticipating the results would of course be clear.

Yesterday morning we went to the Maternal and Fetal Medicine clinic that our OB referred us to for the screen. The screen itself is the nuchal translucency screening test, which uses ultrasound to measure the fluid behind the baby's neck. The end result is a measurement, in millimeters. The thicker or bigger the measurement, the higher risk the baby has for having Downs Syndrome or other chromosomal abnormalities. Normally this measurement is combined with a blood test to give a statistic, i.e. you have a 1 in 350 chance of having a baby with Downs Syndrome.

Our measurement was 2.4 which is in the "upper range" according to the doctor. They like to see around 1.4 or 1.5. Over 3.0 indicates a significantly high risk for Downs. Our measurement was borderline. So much so that they didn't even proceed to draw blood but instead gave us the option of doing a CVS or amniocentesis. The amnio cannot be performed for weeks but the CVS could be performed immediately. We opted for the CVS. The risk of miscarriage with the CVS was lower than the risk of Downs Syndrome with our measurements and I, as a worrier, would worry myself and the baby into misery if I didn't know something.

They moved us to another room for the procedure. They stuck a long needle (twice!) into my uterus through my belly and extracted some of the placenta which was then sent off to be analyzed for chromosomal abnormalities. By Tuesday we'll get a definitive answer for Downs and a few of the other more common chromosomal abnormalities, like Turner Syndrome. It will be 10 to 14 days before we get back the results for the litany of other possible abnormalities, most of which are very rare.

There is a very good chance the baby is just fine and healthy. There is the possibility that the fluid is not an indicator of a chromosomal abnormality but indicates a heart defect, the most common of which can be corrected by surgery at birth. There is always the chance the baby has Downs or some other syndrome. And then we have to make the difficult decision about whether to continue on or not. Quite honestly, I think the answer is that we wouldn't continue, but we'll cross that bridge if we come to it.

We weren't expecting this. After the miscarriage I felt like I had gotten all of the bad stuff out of the way. Sometimes knowing so much just makes things more difficult. We had more early tests than most women in this process because of our involvement with our wonderful reproductive endocrinologist who followed us daily until releasing us to the OB. The OB has been wonderful and works in conjunction with the doctors at the Maternal and Fetal Medicine clinic. At 11 weeks, I have now had 5 ultrasounds and who knows how much blood drawn. Many women only have one ultrasound around 20 weeks. But I wouldn't trade it for anything because in the end, I will know I have done everything I possibly can to ensure this child enters the world healthy and safe.

If we get an all clear, the Maternal and Fetal Medicine doctors will do an echocardiogram on the baby at 17 and at 22 weeks, along with more in depth ultrasounds. We'll also continue with our OB. I couldn't ask for better care and for that we are so very thankful. I will keep you all posted on the outcome of the tests and hopefully have good news to share on Tuesday. Until then, we're off to the mountains for the long weekend, to relax and just to be.

Monday, May 19, 2008

Too Long

I know it has been way too long since my last blog entry. Everything over here is pretty unremarkable, which I think is a good sign. My pants still do not fit and last week we had to go buy a couple of new pairs - not maternity pants but pants one size bigger.

I must admit I am a little distressed by the weight gain thus far. I have gained almost six pounds and we're only closing in on eleven weeks. I've struggled with my weight my entire life and although I was small to begin with, I have a hard time putting on weight, even though I know it is baby related. The problem is that it doesn't look or feel baby related right now. I feel like I look fat, not pregnant. I'm still a vegetarian, still eating well, and still exercising. Sigh....

We have had two OB appointments and had brief ultrasounds at both. The bebe is looking great and our doctor announced at the last appointment he thought this would be a perfect pregnancy. I hope he is right! We have our appointment for non-invasive Downs Syndrome testing this Thursday at a maternal fetal medicine clinic. Our next OB appointment won't be until June.

On Wednesday we are meeting with a potential doula. I've spoken to her once on the phone and really liked her. She will do two prenatal visits and one postnatal visit. She recommended laboring at home for as long as possible and she will come to our house to be with us during that time and then travel to the hospital. I was happy to hear her recommendations on laboring at home because I would like to stay at home for as long as possible.

We are just starting to buy a few things for the little one. Last week I bought an Amby Baby Hammock Motion Bed from a woman who advertised it on Craigslist. She didn't use it but one night before they put their baby in bed with them so it is really brand new. We hope to have it in our room for the first couple of months and then move it into the nursery. Have any of you used the Amby Baby Hammock Motion Bed? This I know is just the first of many purchases.

Monday, May 5, 2008

Little Arms and Legs

We saw the little ones arms and legs and he or she was swimming all around today. It was amazing and such a change from the last ultrasound. Heart was beating 180 beats per minute and all looks well. We are officially released from the RE and tomorrow morning we have our first appointment with our OB. It is all starting to sink in and I am growing more excited with each passing day. And with each passing day I realize that there is so much I do not know, so much to prepare for, and really so little time. For now, we will take everything day by day and the days will turn into weeks, and the weeks into months and before we know it, December and the little one will arrive and we will be wondering where all the time went.

Friday, May 2, 2008

My Pants Don't Fit

It happened about a week ago. My pants got tighter. In the hips and thighs nonetheless. This, I was convinced was not pregnancy-related weight. After all, this little being inside of me was only the size of a blueberry. A blueberry does not make your pants tight. My pants don't fit and I am having a hard time with it.

Otherwise, I must say I am feeling pretty lucky. I have had no sickness or true nausea, only a crummy blah feeling in my tummy for most of the afternoon and evening. The tiredness has set in and I admit to closing my office door and taking more than one nap with my head down on my desk during the middle of the day. I've even drooled a few times.

Next ultrasound with Dr. W. is Monday. He said if all looks well at that time, the statistics show a 90% chance of not having a miscarriage in my age group. I'll breathe a little easier after we pass that mark. We will then be released to the OB, with whom we have an appointment on Tuesday morning. So, look for lots of updates from me next week. Until then, we're off to Carolina Beach for the weekend. See you all next week!