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I've been to one. They generally want to know about the family history of both parents of the baby to see what the chance is for certain genetic diseases. They also will let you know your options for testing (CVS, amnio, etc.) Good luck!
If you are over 35 or have any family history of genetic conditions, including autism or mental retardation, you are usually automatically sent to see them. The autism and mental retardation are indicators of possible Fragile X syndrome which is why they want to test, since it worsens with each generation it is passed to.
Initially they ask a bunch of questions about the medical history and ethnicity of each parent (and they go as far back as grandparents so it's a good idea to get it all written down before you go), then if any of your answers indicate that further testing is required then they will go from there. Some of the conditions that were indicated for me were due just to my Northern European ancestry.
It can be anything from just a blood test, an ultrasound, or in some cases they will recommend an amnio or cvs screen.
If you don't want to go for any of the testing you are free to refuse it at any time.
Waiting for the results is the hardest part. They tell you about all these things that could be wrong with your baby then tell you to wait 3 weeks. Waiting for mine was the worst 3 weeks of my entire pregnancy.
It's also possible that a condition can still be missed as it was with my son who had a neural tube defect which didn't show on any of the tests they did, including ones they did for that particular thing.
i had 2 miscarriages and with the second one they did a DNC and had it genetically tested. also for my last pregnancy i saw a perinatologist every week. it resulted in the full term birth of our son.
basically the perinatologist (office staff) will pay much closer attention to you. you would get weekly visits etc as opposed to the visits a woman without pregnancy risks would normally get.
I saw a perinatologist with my last child. I was over 35 when pregnant with him, but that did not "trigger" the referral. I had a level 2 ultrasound (which may have been standard with my OB or b/c of my age, not sure) and it revealed a problem that landed me a weekly visit (and, later on, weekly sonograms) until I delivered. The perinatologist's office was set up well - they had lazyboy chairs and tvs in the room you had to sit in for FHR monitoring. While it is, of course, unusual, and unnerving, for you to have a high-risk pregnancy, that is what the office specializes in and the staff was very helpful and reassuring.
Good luck with your appointments. You may feel better once they are finished. My first visit to the perinatologist was very nervewracking as there were three problems they were looking at; by the time I left the office, there was only one real problem to worry about. It felt much better to have a plan and some answers.
Well, I'm grateful to be seeing one! My OB has been all kinds of frazzled and disorganized from day 1. She saw me through my last miscarriage and was the one that initiated all of the testing afterwards to determine the causes of our recurrent miscarriages.
At my first OB visit, she looked at me and said, "hmmm 3 miscarriages. Did they ever find out why?" I said, "I don't know, you ran the tests."
2 visits ago at my ultrasound, the tech diagnosed the baby with an echogenic bowel and told me it was a soft marker for CF. My nuchal was normal; so apparently she's an expert. So when I saw my OB about it, she said that it was nothing and not to worry. So the very next visit she said, "why haven't you seen the genetic counselor? why havent' you seen the MFM?" I said, "you never referred me and told me it was nothing to worry about." Then she says, "what was your nuchal result? I can't find it." Then she says, "oh crap. You're 35. Wait. 37. I have to refer you to an MFM."
I was like, really? Really, woman? I'm 25 weeks along and NOW you're concerned about the baby's markers? She JUST realized I'm 37? I've been seeing her for almost a YEAR.
So now we're going to see the MFM, or perinatologist in the Houston Med Center. I think we'll be in good hands. According the them, this is a high risk pregnancy; my OB just didn't think so.
Wow - sorry to hear about all of that - not very confidence-inspiring!
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