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December 2015 Moms
nekedfeet
member
Update: Results/Chromosomal Abnormality. Devasted.
nekedfeet
member
Hello everyone- just wanted to keep you in the loop,
Yesterday we received the initial results from the CVS I took on Thursday. They confirm what was suggested by the ultrasound: the baby (who is a girl) has a chromosomal abnormality. Specifically, she has Turner’s syndrome, in which one of the sex chromosomes is missing. There are two chromosomes that determine sex: females have XX and males have XY. The baby has only one, X. The remaining results of the test come back in two weeks and will tell us more (full results will likely show that some of her chromosomes may have XX, and some may have a partial X), but none of the new information will change this outcome.
Turner’s syndrome is thought to be one of the main causes of miscarriage in early pregnancy, but it is fairly uncommon that the babies survive after 12 weeks, as in our case. There were also a number of complications that were seen in the ultrasound, fluid around the baby, inside the abdomen and around her lungs as well as a herniated abdominal wall. What this means is that it is extremely unlikely that she would survive much longer, let alone to term.
We are of course devastated. But if there is a bright side, it is that Turner’s is not hereditary or recurring. It is just a random genetic misprint, not anything wrong with myself or my husband. Nor is it related to age- many chromosomal abnormalities become more likely to occur with age, but Turner’s is not one of them. There is no reason to believe that we will have any problem having a baby in the future.
The other small (very small) mercy is that the agonizing decision to terminate been essentially taken out of our hands. To all the doctors involved, it is not a question of if, it is a question of when and where. Tomorrow morning (Wed. July 1st) I will be 14 weeks, and will admitted to hospital for a medical induction (basically go thru "normal" vaginal labor). I will be watched over by midwives (and myself) for the whole process and will be quite safe.
We are shattered anew with this new information and are doing our best to process, heal and hold on tight to each other.
Thank you all again for your messages and concern, we really appreciate it all.
Yesterday we received the initial results from the CVS I took on Thursday. They confirm what was suggested by the ultrasound: the baby (who is a girl) has a chromosomal abnormality. Specifically, she has Turner’s syndrome, in which one of the sex chromosomes is missing. There are two chromosomes that determine sex: females have XX and males have XY. The baby has only one, X. The remaining results of the test come back in two weeks and will tell us more (full results will likely show that some of her chromosomes may have XX, and some may have a partial X), but none of the new information will change this outcome.
Turner’s syndrome is thought to be one of the main causes of miscarriage in early pregnancy, but it is fairly uncommon that the babies survive after 12 weeks, as in our case. There were also a number of complications that were seen in the ultrasound, fluid around the baby, inside the abdomen and around her lungs as well as a herniated abdominal wall. What this means is that it is extremely unlikely that she would survive much longer, let alone to term.
We are of course devastated. But if there is a bright side, it is that Turner’s is not hereditary or recurring. It is just a random genetic misprint, not anything wrong with myself or my husband. Nor is it related to age- many chromosomal abnormalities become more likely to occur with age, but Turner’s is not one of them. There is no reason to believe that we will have any problem having a baby in the future.
The other small (very small) mercy is that the agonizing decision to terminate been essentially taken out of our hands. To all the doctors involved, it is not a question of if, it is a question of when and where. Tomorrow morning (Wed. July 1st) I will be 14 weeks, and will admitted to hospital for a medical induction (basically go thru "normal" vaginal labor). I will be watched over by midwives (and myself) for the whole process and will be quite safe.
We are shattered anew with this new information and are doing our best to process, heal and hold on tight to each other.
Thank you all again for your messages and concern, we really appreciate it all.
1st Pregnancy: EDD 12/31/15; Diagnosed Turner's with terminal cystic hygroma 13wks; induced at 14wks, +3 d+c's.
2nd Pregnancy: BFP 10/8/15; EDD 6/21/16
2nd Pregnancy: BFP 10/8/15; EDD 6/21/16
Re: Update: Results/Chromosomal Abnormality. Devasted.
Together since 2006
Married 01.17.15
Married 07/29/10 and blessed with our Baby Boy Bowen on 06/17/2013
Me:34 DH:41 1 son: 6 2 step sons: 18, 12
BFP: 4/24/08 - Missed Miscarriage found 5/29/08
BFP: 11/21/08 - DS born 7/13/09
BFP:5/8/14 - Chemical pregnancy
BFP: 4/11/15....stick baby stick!!!
Baby Girl 12.9.15
MC 4.7.14 @ 21 W - Turners Syndrome