So, last Friday I got a call from my OB. She said she had our fetal tissue testing results and wanted to give them over the phone before she left for vacation.
She seemed genuinely surprised by the fact that the results came back abnormal. She said the results showed a chromosome abnormality called Triploidy.
The only good description I found on HealthLine.com.
"Triploidy is a rare lethal chromosome abnormality caused by the presence of an entire extra set of chromosomes. A fetus with triploidy has 69 chromosomes, rather than 46. The majority of fetuses with triploidy are spontaneously miscarried during pregnancy. Those that survive until birth will have severe growth retardation and multiple birth defects. This condition is incompatible with life."
"Triploidy occurs in several different ways. The extra set of chromosomes can be inherited from the father (paternal inheritance) or they can be from the mother (maternal inheritance). The most common mechanism for triploidy is the fertilization of a single egg by two sperm. This results in a triploid egg with two sets of paternal chromosomes and one set of maternal chromosomes."
"Fetuses with triploidy can be 69,XXX (female), 69,XXY (male), or 69,XYY (male). Twenty-three chromosomes (or one set) is referred to as a haploid set of chromosomes, 46 chromosomes (or two sets) is referred to as a diploid set of chromosomes, and 69 chromosomes (or three sets) is referred to a triploid set of chromosomes. A fetus with triploidy has three haploid sets of chromosomes."
Our baby was XXX - a girl.
I don't think I really wanted to know what it was. But I guess when you are talking about chromosomes it kind of just comes up.
The OB still wants us to come in for our follow up appointment on Tuesday, to see how everything is going, and to talk in more detail about our results and "next steps."
She wants to send us to a Genetic Counselor to talk in greater detail about our risk factors and odds. I have about a million questions and unfortunately one thing this diagnosis has brought back are all the questions about the first miscarriage. Too bad we'll never know.
Overall I'm doing well. It has been over two weeks since my D&C. My body feels pretty much back on track. C and I are going to wait to start trying again after we have a more clear picture about what will happen the next pregnancy, or how we even get to the next pregnancy.
I've been working on a fun project and am getting my hair done tomorrow! I'll post about those later with before and after pics!
Today is my Friday, YAY! I plan on enjoying my long weekend with lots of booze and fun!
I'm glad you have an answer as to what happened and that there are plans in place to find out more. You deserve a nice long weekend with lots of booze & fun!! Have fun getting your hair done!
ReplyDeleteWow, that's a lot of heavy information to find out. I am glad to read you are doing well overall.
ReplyDeleteHow do you feel finding out she was a girl? After my very short miscarriage, my mother-in-law encouraged me to give it a name but I just couldn't since I didn't know the sex or anything like that. Do you think you'll give her a name?
Mrs. B - Booze FOR SURE :)
ReplyDeleteK - Thanks for the comment. I'm sorry about your loss :( I didn't know the sex of my first loss either. You present a good question.
It was weird finding out it was a girl. I guess I expected to not find out so I was a little caught off guard. I was also pretty convinced it was going to be a boy, so it was a surprise. Such a funny feeling really, like "oh exciting...but wait...not quite.." I guess it also made me sad. Like ok, there "it" was, now it's not an "it" she has become my daughter that I will never meet. Suddenly it felt more real. And really after the doctor said it, I couldn't concentrate on what else she had to say.
Will we name her? I really don't know. Probably not, I think I will think of her as my second lost child, my baby girl.