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May 2012 Moms
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Genetic counselor, NT scan and I'm out on FB!!

annerz22annerz22 member
in May 2012 Moms

So we met with our genetic counselor today and also had our NT scan. Everything went wonderfully and it was amazing to see how much baby has grown in just a short 12 days!

Genetic counselor talked to us about cystic fibrosis and DH had his blood drawn. We'll find out if he's a carrier in a few days. She also talked to us about my risk of Spinal Muscular Astrophy and said that DH's bloodwork he had last month shows he is not a carrier, so we don't have anything to worry about. Phew!

The NT scan went great. Fluid is at 1.3mm which is great and baby had all fingers, toes, everything and was bouncing all over the place. We couldn't tell what the sex is yet, but if you base it off of the photo below and the direction that the genetials are pointing the tech said it is looking like a girl (based off of this idea "angle of the dangle)....I'm not getting excited about it yet, but a girl would be nice!

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1st BFP- March 2011. Natural MC @ 8 weeks
2nd BFP- July 2011.  Chemical Pregnancy
3rd BFP- Sep 2011. My beautiful son was born May 2012.
4th BFP-August 2014- Due May 12, 2015

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Re: Genetic counselor, NT scan and I'm out on FB!!

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    mrsbecky07mrsbecky07 member
    What a great picture!  Hope the results for CF are good!
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    DSU98DSU98
    Congratulations!!!!
    Alyssa born 6/14/05 at 8 lbs 2oz - Ashley born 3/27/10 at 6 lbs 13oz
    We had 2 years of IF trying to conceive #2 and one loss during that time. We are currently trying for #3! had another loss the end of June
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    blueshamrock7blueshamrock7 member
    Congratulations! Great u/s picture! :-)
    --Danielle :-)
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    NemoJrNemoJr
    Congrats on a great scan!  It's such a cute picture of the little one!
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    PineappleLanePineappleLane member

    congratulations ! :)

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    kaelarose13kaelarose13 member
    Congrats on all of the good news! Could you give me a bit more information about Spinal Muscular Atrophy? I had a cousin who died of this (also called Werdnik/Hoffman's Syndrome) and I recently asked my doctor about it and she didn't really have much good information. Are you a carrier? I'm not sure if I need to see a genetic specialist or what...hopefully you don't mind all of my questions. Thanks so much :)
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    huskymomma94huskymomma94 member
    Yay! Adorable picture!


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    annerz22annerz22 member

    imagekaelarose13:
    Congrats on all of the good news! Could you give me a bit more information about Spinal Muscular Atrophy? I had a cousin who died of this (also called Werdnik/Hoffman's Syndrome) and I recently asked my doctor about it and she didn't really have much good information. Are you a carrier? I'm not sure if I need to see a genetic specialist or what...hopefully you don't mind all of my questions. Thanks so much :)

    First off, I am so sorry about your cousin.

    I am a carrier of this gene (as well as cystic fibrosis). My dr ran a prelim genetic blood screen on me about a month ago which tested me for all different types of issues that may come up when having a baby. She reccomended that DH and I see a genetic counselor to learn more about SMA and to have DH checked. Basically SMA is a recessive genetic mutation in which BOTH parents have to carry the mutated gene for the baby to have SMA. Even then it is only a 25% chance that the baby will actually have SMA. If the baby does have SMA, it affects the muscles and motor skills. Basically, the baby is born with very little muscle mass and normally the child won't live a very long life. There are different severities of the problem depending on the type of mutation you have.

    I'm sorry that your dr didn't give you anymore information. I would suggest talking to your DR again about you and your SO getting tested and/or seeing a genetic counselor. I believe there is a slightly higher chance if a family memeber has SMA (as in any genetic disorder) and it's better to be safe than sorry. It was an easy blood draw and we have our results back in about a week. If you both are carriers, I believe an Amnio can test the baby. Good luck, and I hope this helped!!

    1st BFP- March 2011. Natural MC @ 8 weeks
    2nd BFP- July 2011.  Chemical Pregnancy
    3rd BFP- Sep 2011. My beautiful son was born May 2012.
    4th BFP-August 2014- Due May 12, 2015

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    kaelarose13kaelarose13 member
    It helped very much, thank you! I'll be calling my doctor's office again to request that blood test and a referral to a genetic counselor as well if needed.
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    ashleym373ashleym373 member
    Aw, what a cute picture. I would have to say a girl is looking favorable if you go by the angle of the dangle theory. 
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    My first :)
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    Bemmas221Bemmas221 member

    SOOOO EXCITED for you! I hope your DH is negative for being a CF carrier and you have a very healthy happy baby!

    From what I know about angle of the dangle, it looks like a girl to me too ;-) 

    I loved that you came out on FB today - we will probably tomorrow after our NT scan.  

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    SaintCitySaintCity
    Congrats on a great appt!  You must be so excited to be "out"!  Enjoy!  Wishing your DH good results on the CF.
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    missbrooklyn1missbrooklyn1 member
    Missed this yesterday somehow.  Congratulations!!  
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