April 2015 Moms

Genetic counseling

Kinda nervous here! When I went to my first prenatal visit with my doc she suggested I see the high risk genetics clinic due to family history: my sister was born without an esophagus as well she only has ovaries no other reproductive organs, plus heart issues (she's a totally normal and functionin adult now just a long road!) they said it wasn't genetic but an anomaly. I also have my dad's first cousin who has a child with Down syndrome and his other first cousin had a baby with very rare Haywells syndrome (very sad, she died at 3 yea of age). So that was enough for her to send me to the clinic. We are having twins so I am double the worry wart now! Anyone else been to a genetics clinic??! What sort of testing did they do/suggest??

Re: Genetic counseling

  • I went to one at 33 weeks with my first son. I tested positive for a rare antigen in my blood and my husband had another rare antigen...so basically they had to test my blood ever week at the end of my pregnancy to make sure levels didn't rise bc that would mean my body was attacking my baby like a virus. Anyway...we saw a genetic counselor and I thought it would be weird but it was interesting. She was so nice and basically just sat with us and mapped out a family history chart of disabilities and things going back a few generations. My neice has Williamson Disease, and my family has a rare MS disorder. I was curious and nervous about the probability we could have it. The counselor really calmed my fears and I learned statistically it was low out baby would have any problems. I say go for it! It was a positive experience and good info to know for yourself and your kids.
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  • I saw a genetic counselor with my first. She took our family histories and walked us through the different tests that are offered. In the end there weren't really any tests that would give us information specific to us. She may have advised my dr.s to give me extra u/s, but I think they were going to do that anyway. 
    I ended up with the world's most boring (in a good way) pregnancy and delivery, with a healthy baby boy at the end of it all.
    Married to E on June 5, 2010
    Gave birth to baby boy, I, on March 25, 2012
    Gave birth to baby girl, A, on May 20, 2013
    Baby #3 due April 29, 2015

    Recovering from mitochondrial dysfunction and Addison's/possibly very severe adrenal burn out using food, medicine, and a large amount of garden therapy.
  • We just had our appointment Tuesday. The doctor was chill and she stressed the overwhelming likelihood of everything being ok. We are doing the MaterniT21 screening because it's noninvasive and risk free. I don't know how that works with twins but if they offer you noninvasive screenings it seems worth while. Or you could just not worry about it. I decided everything's fine and stopped worrying because it was no fun and I was wasting my time. There is plenty of time to worry once you find out you have a reason to.
  • I mean if you find out of course!
  • I'm pregnant with twins, too. We met with the genetic counselor yesterday and as other posters said, it was basically taking family history & explaining testing options/statistics. We opted for the MaterniT21 test which we were told will identify any chromosomal abnormalities however,
    further testing (e.g. amniocentesis) would be necessary to know for certain which twin is affected.
  • Thanks ladies. The appt is tomorrow. I'll let you know if anything comes of it
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