Our amnio results are here. We are relieved, mostly. No Down's, Trisomy 18, Trisomy 13, or other "big" chromosomal abnormalities. And, it's still a boy! But there is a satellite on chromosome 22 - extra DNA at one end. Extra DNA is normal, but this satellite is unusually long. Our genetics counselor said she has never seen this type of result in a cytogenetic test during the four years she has been working at UCSF. The easy and hopeful explanation is that either Ben or I have the same satellite in our DNA, and we have passed on this inconsequential extra DNA. If that's not the case, then our counselor said they would do "more review of the literature". Beyond that, there doesn't seem to be anything that can be done, except possibly more ultrasounds. So we're not quite free and clear.
Mom and Pop both gave blood today for a chromosomal analysis to compare to boogie baby. We get the results back in a week. The anxiety from this roller coaster is really wearing on me. There hasn't been enough time for me to just enjoy being pregnant. I keep feeling like I have to hedge my bets - don't get too excited, be prepared. It's even made me hesitate buying maternity clothes.
Another week of waiting...
Thursday, August 26, 2010
Saturday, August 14, 2010
Just a little prick
With all of the worry and deliberation about the amnio, I had nearly forgotten that we would find out boogie baby's gender at the second level ultrasound. It's a boy! That will be grandson #4 for my parents, and grandson #1 for my DH's parents.

The doctor and the ultrasound technician both said he is very photogenic on the ultrasound. Taking after Ben, I'm sure. Always ready for pictures! He's already 6-8 inches long. His face looks like Darth Vader (a future actor), 5 fingers on each hand (down from 7 but I'm sure he'll still be able to spin plates), and his heart beats happily. Ultrasounds are cool.

In the end, Ben and I decided to do the amnio. Even if the level 2 ultrasound did not show any soft markers, we needed to have certainty, and I didn't want to be wondering for the rest of my pregnancy. Dr. Schaffer a perinatologist at UCSF, performed our amnio. He and Ben bonded over Philly, and Brenda, our ultrasound technician, regaled us with stories of Eastern Airlines. They were great, and helped me to relax.
The procedure was somewhat painful but very short (5 minutes). A long needle is inserted into the abdomen, guided by the ultrasound, then amniotic fluid is collected. Boogie is a fiesty one. He was grabbing for the straw that was being used to collect the amniotic fluid. The doctor said that this was fine, since the needle had been removed at that point (it's like an IV). Very cute. He's probably been bored in there...
So now I'm resting at home. Doctor said I can return to normal activity within 24 hours, as long as there is no bleeding or amniotic fluid leakage. So far so good. And, I had a half a glass of wine last night to relax. A fertility doctor I had talked to earlier in the week recommended it so the uterine muscle would relax after my procedure. I've become a cheap date! I almost couldn't finish it, I was really tipsy.
So now, we wait until Tuesday for the amnio results...

The doctor and the ultrasound technician both said he is very photogenic on the ultrasound. Taking after Ben, I'm sure. Always ready for pictures! He's already 6-8 inches long. His face looks like Darth Vader (a future actor), 5 fingers on each hand (down from 7 but I'm sure he'll still be able to spin plates), and his heart beats happily. Ultrasounds are cool.

In the end, Ben and I decided to do the amnio. Even if the level 2 ultrasound did not show any soft markers, we needed to have certainty, and I didn't want to be wondering for the rest of my pregnancy. Dr. Schaffer a perinatologist at UCSF, performed our amnio. He and Ben bonded over Philly, and Brenda, our ultrasound technician, regaled us with stories of Eastern Airlines. They were great, and helped me to relax.
The procedure was somewhat painful but very short (5 minutes). A long needle is inserted into the abdomen, guided by the ultrasound, then amniotic fluid is collected. Boogie is a fiesty one. He was grabbing for the straw that was being used to collect the amniotic fluid. The doctor said that this was fine, since the needle had been removed at that point (it's like an IV). Very cute. He's probably been bored in there...
So now I'm resting at home. Doctor said I can return to normal activity within 24 hours, as long as there is no bleeding or amniotic fluid leakage. So far so good. And, I had a half a glass of wine last night to relax. A fertility doctor I had talked to earlier in the week recommended it so the uterine muscle would relax after my procedure. I've become a cheap date! I almost couldn't finish it, I was really tipsy.
So now, we wait until Tuesday for the amnio results...
Labels:
2nd level ultrasound,
amnio,
amniocentesis,
pregnancy
Tuesday, August 10, 2010
1/73
I had a blood draw for the second trimester genetic screen on 3 August, and basically forgot about it. The nurse/midwife said it would take two weeks to get the results, and that the state would only call early if the results were "interesting" (=bad). I was focused on my close friends' wedding in Yosemite over the weekend, my friends whom I would marry. Monday afternoon, I was still basking in the glow of the wedding and catching up on work, when I saw the number for St. Luke's flash on my phone. Mary, one of the midwives from St. Luke's. I couldn't think of why she would be calling - my centering pregnancy class didn't start until 20 August.
I had screened positive for Down's. 1/73. I could feel the tears coming, and I tried to think of the questions I should be asking. I wasn't prepared. I had assumed my 1:220 probability for Down's from my first trimester screen would improve. Mary told me they would coordinate with UCSF to move my Level 2 ultrasound forward, include genetic counseling, and an amnio if we elect to do it.
I didn't understand - my AFP was 0.82, HSG 1.54, and estradiol 0.66. Each of these individually are in the normal range. Mary told me that further interpretation was something that a genetic counselor would need help me with.
So I'm crushed, and - again alternating between - wondering why we waited to have kids, thinking it's all going to be ok, and wondering what to do about the amnio or level 2. I laid out the odds for miscarriage from the amnio in my 14 July post. 1:340. I'm also seeing 1:500 and even lower in some studies on the internet, but the references are poor. I can't determine what amnio stats to believe. And, the level 2 ultrasound provides some "soft" markers, but still half of the Down's cases do not show evidence on an ultrasound.
So now our appointment at USCF prenatal diagnostics is moved to Friday afternoon. It seems like forever from now, but on the other hand I feel there's so much I need to research and think through.
I had screened positive for Down's. 1/73. I could feel the tears coming, and I tried to think of the questions I should be asking. I wasn't prepared. I had assumed my 1:220 probability for Down's from my first trimester screen would improve. Mary told me they would coordinate with UCSF to move my Level 2 ultrasound forward, include genetic counseling, and an amnio if we elect to do it.
I didn't understand - my AFP was 0.82, HSG 1.54, and estradiol 0.66. Each of these individually are in the normal range. Mary told me that further interpretation was something that a genetic counselor would need help me with.
So I'm crushed, and - again alternating between - wondering why we waited to have kids, thinking it's all going to be ok, and wondering what to do about the amnio or level 2. I laid out the odds for miscarriage from the amnio in my 14 July post. 1:340. I'm also seeing 1:500 and even lower in some studies on the internet, but the references are poor. I can't determine what amnio stats to believe. And, the level 2 ultrasound provides some "soft" markers, but still half of the Down's cases do not show evidence on an ultrasound.
So now our appointment at USCF prenatal diagnostics is moved to Friday afternoon. It seems like forever from now, but on the other hand I feel there's so much I need to research and think through.
Labels:
amnio,
amniocentesis,
down's syndrome,
genetic screen,
pregnancy
Wednesday, August 4, 2010
No Hiding It Now
Sixteen weeks and I have somehow managed to gain 12 pounds, or is it 14? My acupuncturist suggested I gain five pounds when I was trying to get pregnant, and I was only too happy to oblige, and of course support our local Precita Park market through my ice cream purchases. Favorite flavor still Ben & Jerry's Half Baked Frozen Yogurt.
Dr. Rubashkin says I should target gaining 1/3 of my total gain in the first 1/2 of my pregnancy. Yes, more math. So if I gain the high end of the recommended range, 35 pounds, I should gain 17 pounds total by week 20. Gotta put the brakes on the sweets though I just discovered a yummy pistachio gelato by Ciao Bella!
The happy part of gaining weight is that I'm pretty much past the "has she just gained weight?" phase. But now I'm starting to navigate the uncharted territory of maternity clothes. I ventured into Pea in the Pod for the first time last week, and all the pants have these crazy stretchy waist bands on them. I hovered close to the entrance for the first few minutes, trying to determine whether I should run out screaming, but a happy sales person descended on me, and started creating a room for me, so I was pulled in. I ended up buying a pair of jeans with the stretchy "patent-pending belly band", which I've already returned. Luckily Anna lent me a few pairs of more acceptable (to me) "starter" maternity pants which will hopefully keep me clothed for the next couple months.
And, I told my boss today. He was in town for a meeting. He simultaneously asked me how much time I was taking off, and whether I was going to become a full time mom, then gushed about how much he loved raising his three girls - except the "argumentative phase". Very sweet. By the way, my answers were "three months", and "no"....
Dr. Rubashkin says I should target gaining 1/3 of my total gain in the first 1/2 of my pregnancy. Yes, more math. So if I gain the high end of the recommended range, 35 pounds, I should gain 17 pounds total by week 20. Gotta put the brakes on the sweets though I just discovered a yummy pistachio gelato by Ciao Bella!
The happy part of gaining weight is that I'm pretty much past the "has she just gained weight?" phase. But now I'm starting to navigate the uncharted territory of maternity clothes. I ventured into Pea in the Pod for the first time last week, and all the pants have these crazy stretchy waist bands on them. I hovered close to the entrance for the first few minutes, trying to determine whether I should run out screaming, but a happy sales person descended on me, and started creating a room for me, so I was pulled in. I ended up buying a pair of jeans with the stretchy "patent-pending belly band", which I've already returned. Luckily Anna lent me a few pairs of more acceptable (to me) "starter" maternity pants which will hopefully keep me clothed for the next couple months.
And, I told my boss today. He was in town for a meeting. He simultaneously asked me how much time I was taking off, and whether I was going to become a full time mom, then gushed about how much he loved raising his three girls - except the "argumentative phase". Very sweet. By the way, my answers were "three months", and "no"....
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