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January 2022 Moms
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Genetic Testing

chelswcu12chelswcu12 member
edited July 2021 in January 2022 Moms
Has anyone done the genetic testing panel? My fiancé and I had it done. I got my results today and it says I’m a carrier for glutaric academia type IIC...which after looking it up sounds really bad. Babies can’t break down fat and proteins and have a slim chance of surviving. My fiancé’s results still aren’t in yet, but if he is a carrier too...then our baby has a 25% chance of having it. My fiancé has a .004% chance of being a carrier too. I know this is a super small risk, but I am just a nervous wreck and just sick over it 😢 anyone else been through anything like this? Also, asking for good vibes/prayers whatever you’ve got! Our Nuchal Scan and chromosome testing came back great and this was the last testing we have been waiting for 😢
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Re: Genetic Testing

  • fifilala516fifilala516 member
    Thinking good thoughts...it's very, very slim that your FI is also a carrier. 

    We did genetic testing prior to TTC. 
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  • chelswcu12chelswcu12 member
    @fifilala516 thank you! I wish we would have done it before TTC too, because now I’m 13 weeks and so scared! :( 
    did you or your husband test positive for anything? I was shocked to see this on mine, but I guess with this stuff you just never know :( 
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  • karenmarie9karenmarie9 member
    @chelswcu12 - we did it before IVF and my husband and I were both potentially carriers for a condition.  We wound up having both sets of our parents tested and luckily that ruled us out out being carriers.  Best of luck to you!  
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  • fifilala516fifilala516 member
    chelswcu12 said:
    @fifilala516 thank you! I wish we would have done it before TTC too, because now I’m 13 weeks and so scared! :( 
    did you or your husband test positive for anything? I was shocked to see this on mine, but I guess with this stuff you just never know :( 
    We were both carriers for different conditions. I myself am a Cystic Fibrosis carrier and something called Mucolipidosis IV, which the genetic counselor wasn't even familiar with! My husband is a carrier for something called PMM2. Luckily the counselor classified as low risk, but cautioned that nothing is 100%. 

    I think you will be ok - that's a very low chance of you both being carriers, and your other tests came back negative.
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  • chelswcu12chelswcu12 member
    @fifilala516 @karenmarie9 thank you both for the feedback! Just hoping and praying for the best! We are getting married August 7th and plan to announce the pregnancy at the wedding so that adds another layer of stress! 🙏🏻🙏🏻🙏🏻
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  • AshleyGemini24AshleyGemini24 member
    I would say not to worry until you habe something sokid to worry about. Look into what resources you might need in advance. But dont stress over it. 
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  • comtessedeclecomtessedecle member
    I have a twin brother with a degenerative eye disease that will lead to blindness. We are 37 now and he has 30 percent of his vision.  He's been in a long range study and through that, I learned that I am a carrier and IF we have a boy, he has a 50 percent chance of having the same disease. I found out last week that I AM having a boy.  My twin is very upset and wants us to do whatever genetic testing we can in utero to find out about the baby.  I'm more of the mindset that we should wait until we have something to worry about (my twin starting showing symptoms in grade school).  My SO feels like if we know we can prepare, but I feel like we could spend potentially years feeling anxious but nothing being an issue.  

    Any advice appreciated!!

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  • beckylookatherbumpbeckylookatherbump member
    @comtessedecle while I understand not wanting to stress without knowing I think there’s a few benefits to finding out. 1. If you find out he doesn't have it you can truly forget about it. 2. If he does have it it gives you extra time to teach him things that can be beneficial if his vision does go such as Braille etc. 
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  • fifilala516fifilala516 member
    @comtessedecle I'm of the mindset that it's better to know whatever you can to get ahead of the game and potentially prepare, but it's up to you and your SO.

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  • Lisa3379Lisa3379 member
    @chelswcu12 Great news!! 
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  • fifilala516fifilala516 member
    Great!!!
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  • AshleyGemini24AshleyGemini24 member
    Great
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