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Parenting after a Loss
QuigleyCat1
member
XP: Detail of gen.counsel and u/s *sensitive subjects*
QuigleyCat1
member
Those on mobile: XP: Detail of gen.counsel and u/s *sensitive subjects*
We had an appt with my OB on Tuesday. It was a normally scheduled pregnancy appointment however is was anything but. Instead of checking for our baby boy's heartbeat and so forth, we talked about my u/s which showed all of his severe abnormalities and what our options would be. I told you all how much I love my OB and how incredible she is, so this appt was pretty tough...I just get so emotional when she walks in. DH was with me and was wonderful, and she spoke with him just as much as with me. I start this post this way because after our appt with her, I don't feel "better" but I feel more "settled in" about everything we've taken in since last Wednesday. I now know what Trisomy 13 is and entails, so the initial shock has simmered down quite a bit for me. And because of this, I think I can tell you a bit more about my u/s and genetic counseling from Monday.
First, we did meet with our scheduled GC, but she also had an intern with her that day. My first thought to myself was, "Oh great." But let me tell you...we could tell she was an intern, but she did an absolute wonderful job at explaining everything. She went through all the "science" of it in layman's terms, of course, so we could understand the basics of the chromosome stuff and how it works. We were also told that, although very rare, the T13 (if mosaic) could be confined to the placenta only and not the baby's body. I was crossing everything I had in hopes of this, of course. From there we talked about the MaterniT21 Plus test which is what I had. They explained to us that this test is a test of my blood, which I knew. What I didn't know is that it actually tests the placenta because tiny pieces of it flow through the mother's blood and that's how they get samples of baby's chromosomes. I had no idea. This is the reason that they couldn't do the CVS because the placenta is sampled through CVS as well, and just basically would've gotten the same result as Mat21. (Also there was miscommunication somehow on how far along I was and I'm too far along for a CVS. It was a little odd, but they handled everything seamlessly and so it wasn't a big deal at all.) So I ended up with another try at an amnio.
First the u/s tech began abdominal u/s and she was very kind, but explained that she wouldn't be able to tell me anything; that the dr would be able to. As soon as she began, we saw our little boy just dancing around on the screen. It's so hard knowing what we do. It didn't take me long to see a great heartbeat and I broke down. She asked me if I needed a break, but I said no. Let's just keep going. She took so many stillshots of Lord-knows-what for about 15 minutes or so. Then the dr came in. He began abdominally and said he could see some thing that concerned him. He asked me if he could continue the u/s vaginally. Of course I said yes. That's when the bad news started coming. He was able to find hydrocephalus of the entire brain, severe heart defects, severe kidney defects, severe bowel defects and a cyst on the umbilical cord. He could also see that our boy's right orbit (eye socket) was significantly larger than the left. And although it was a bit early to see a lot of detail in the face (even with 3D) he said that seeing an orbit like this would likely mean there would be other severe facial defects. He tried very hard to get a clear shot of his hands to look for a sixth finger which is a tell tale sign in all T13 diagnosis. He couldn't get a clear count, but said that if he had...that would've sealed the diagnosis for him. When we asked what his quality of life would be, the dr said it would be very little quality of life. 
The tech asked if I wanted some pictures which I did. That was hard.
From here, he said he was confident he could do the amnio but would go from a different angle than the other dr who tried. This dr went at an angle (rather than straight down) and actually went through the placenta and into the amniotic sac to retrieve the fluid. I had hardly any pain with this method; just slight cramping was all. He got "good" samples and that was pretty much it. I'm thinking our FISH results will be in today so I'm expecting a call from the GC just to verify the diagnosis. A full report would be available in about 2 weeks. But our OB told us that if the FISH comes back positive, then there's no reason to wait on the full report if we have to make any decisions. DH and I have talked about these decisions, and I'll save that for another post for another day. I really need to take a day at a time...actually a minute at a time. Thank you so much for taking the time to read this. I know it's very long, but I know there were some of you that were interested in how the genetic counseling went and so forth. ..
Thanks again, and I'm trying to come around to being able to support again. I really am trying, but please PLEASE know I'm thinking of all of you and keeping you in my thoughts and prayers as well. ((HUGS))
***BFP 1-22-13, baby boy dx with Trisomy 13 at 15 weeks.
We let him go to Heaven on 4-27-13 at 17 weeks 1 day***
This discussion has been closed.
Re: XP: Detail of gen.counsel and u/s *sensitive subjects*
BFP #2 11/3/10; BO at u/s 10w6d 12/16/10; Natural MC 1/7/11; D&C 4/21/11
BFP #3 10/27/11 Please stick, LO!! 2/6/12 It's a Girl! Alexis Grace born 6/29/12
BFP#4 4/27/14 Stick, stick, stick!! 8/11/14 It's a Boy! Evan Wesley born 1/8/15
"Patience is waiting. Not passively waiting. That is laziness. But to keep going when the going is hard and slow, that is patience." Let it Be (blog) ♥ My BFP Charts
This time I'm not leaving without you.
BFP #1 6.19.11 ~ EDD 2.23.12 ~ CP on 6.22.11
BFP #2 7.23.11 ~ EDD 3.28.12 ~ MC on 8.16.11
BFP #3 11.17.11~ EDD 7.31.12 ~ MC on 1.18.12
BFP #4 4.12.12 ~ EDD 12.25.12~ Born on 12.26.12
BFP#1 10 wk missed mc
BFP#2 DS born at 40+2 on 8/14/12 BFP#3 DD Born at 39+3 on 5/13/14
Many prayers for you and your dh, and of course your little one, as you get the results and come to a decision.
BFP#2 2.5.11 (EDD 10.15.11) DS born 9.28.11
BFP#4 8.27.13 (EDD 5.6.14) DD born 4.23.14
My Recipe Blog
~All AL'ers welcome~
Thinking of you and your family during this difficult time. I wish I could hug you IRL!!! Hugs to you !!
Heather
ITS A BOY!!!! Born 11/13/11 BFP #4: 10/29/12 edd 7/11/12
TTC since 11/2009; Lap/HSG/Hysteroscopy: 5/2011 (endometriosis - removed; endocervical polyp - removed; high pressure in bilateral tubes - cleared)
BFP #1: 8/4/11; DS1 born sleeping on 11/16/11 at 19w1d
BFP # 2: 5/7/12, EDD 1/10/13, DS2 born 1/4/13
BFP # 3: 11/8/13, EDD 7/17/14, mmc 10wks
BFP # 4: 5/16/14, EDD 1/15/15, praying for our 2nd rainbow baby
BFP #2- 2/1/11,bleeding- 2/6/11, natural m/c @ 5wks
BFP #3- 4/29/11 - DS born 12/31/11
TTCAL buddies with LilMaggs and psumel13
BFP#1 11/12/11 ~ No heartbeat 12/12/11 ~ D&C 12/19/11
BFP#2 3/25/12 ~ Heartbeat 141 4/16/12 ~ No heartbeat 4/25/12 ~ D&C 04/30/12
BFP#3 7/16/12 ~ EDD 3/26/13 ~ It's a BOY ~ DOB 2/26/13
Continued thoughts & prayers to you & your family.
Big squishy hugs! Thank you for sharing your story. You are in my thoughts!
BFP#2 ~ 8/2/11, EDD 4/11/12, D&C 9/12/11 at 9w5d
BFP#3 ~ 4/15/12, EDD 12/21/12 ~ DD born 12/22/12
BFP #2 4/13/10. Bridget born 12/28/10
BFP #3 Finn born 8/11/15
[url=http://www.thebump.com/?utm_source=ticker&utm_medium=UBB&utm_campaign=tickers][img]http://global.thebump.com/tickers/tt1cb8c4.aspx[/img][/url]
October 2011 - DS (7)
July 2014 - Stillborn DD (24 weeks)
August 2015 - DD (3)
April 2018 - 5 week loss
((hugs))
I am so sorry you are going through this and my T&P's are with you and your DH.
My Life
BFP 7.7.09 - CVS 9.10.09 (Girl) - 9.24.09 Severe Fatal Malformation - D&E 10.7.09 @ 17wks
BFP 6.1.10 - 6.10.10 Ectopic M/C @ 5wks
BFP 10.26.10 - 10.29.10 CP
BFP 1.30.11 - CVS 3.28.11 (Girl) - EDD 10.11.11 - Born 10.6.11
BFP 12.18.12 - 12.20.12 CP
BFP 3.18.13 - CVS 5.21.13 (Girl) - EDD 12.2.13 - Born 11.24.13
BFP 6.10.14 - CVS 7.2.14 (Girl) - EDD 1.12.15 - Born sleeping 8.6.14 @ 17w5d
::hugs::
Dx: Me: Recurrent Pregnancy Loss; DH: Low Morphology (2%)
BFP#1: MC 3/1/11 at 6w1d - EDD 10/21/11
BFP#3: MC 2/8/14 at 4w5d - EDD 10/13/14
BFP#6: CP 11/6/14 at 4w2d - EDD 7/14/15
IVF #1 with ICSI & PGS: May/June 2015, ER 6/3/15, 17R/17M/15F
IVF #2 with ICSI & PGS: July 2015, ER 7/16/15, 16R/11M/9F
PGS results = 6 normal embryos (4 boys, 2 girls)
FET 9/23/15 = BFFN
I' sorry I am so late getting to this. I just wanted to send you a hug through the computer and let you know I am thinking about you. I can't even begin to imagine all the thoughts and emotions you must be feeling right now. The other night I heard thi
type 1 diabetic for 7 years. Been on the pump for 6 years.
BFP #1 6/28/11 ~ EDD 3/7/12 ~ m/c 7/15/11 at 6w2d
BFP #2 8/29/11 ~ EDD 5/12/12. 4/25/12: Our take home baby is here!
BFP #3 8/27/13 ~ EDD 5/11/14. 4/27/14: Our second take home baby is here!