Good morning ladies, im mainly writing this today to vent so bare with me. I had my first tri screening yesterday which actually came back good less then a 1 in 10k chance for down syndrome or trisomy 18 so thats good. But the main reason I was going in was to see a genetic counsellor because I have a syndrome called Ehlers Danlos Type I. This is a hereditary disorder that has been passed down through the generations and it basically is a tissue and ligament disorder. I am in no pain from it but basically I was the cool kid in school that could stretch her skin and was extremely double jointed. There is a 50/50 chance that my baby will have it and Im not worried about that at all, what I am worried about is me carrying the baby through pregnancy. Quick back track, my mom also has ehlers danlos and she had me perfectly fine at 39 weeks no problems but when she had my brother 8 years later she went into pre-mature labor at 5 months and had to be hospitalized and her labor stopped for 2 months. Because of the Ehlers danlos my mom started contracting early. So im just wanting to know what my chances are of that happening to me too. So when I met with the genetic counsellor he was trying sooo hard for me to have an amnio to check if the baby has ehlers danlos with a 1 in 250 chance of a miscarriage, I told him no its not going to change my mind if the baby has it or not im more worried about the pregnancy so he said I would talk to the doctor about that after my first tri screening. Okay im good with that, so we do the ultrasound and everything which was really cool the baby was really active yesterday. Then the doctor comes in and tells me my results and I ask him about the pregnancy and he said "Well your OB will be watching you with that" REALLY!?? The main reason I came here was to talk to you about my risks and you have nothing to tell me....GRR
Im just happy that babys fine and active, im going to follow up with my OB more.
Sorry for the long vent but thanks for listening (reading)!!
Re: First Tri Screening (long)
TTC #1 - May 2010 - IUI #3: BFP
TTC #2 - May 2012 -IUI #2: BFP
I know you're annoyed but when you listed your concerns above, the first thing I thought was that it's an issue you should be discussing with your OB, not a genetic counselor. The OB's role is to monitor you and your pregnancy. The GC's role is to inform you of risks for your baby.
hope you get some answers soon.
Right, I first brought it up with my OB and she sent me to the genetic counsellor, I was kinda confused as well. I am going to talk to her about it in 3 weeks.