Genetic Concerns Thread

ReadyForaB · May 2022

This thread is for anyone who has, or has a partner who has, a familial genetic disorder. It is a place to share concerns and ask questions.

Have you or your partner had any genetic testing?

If you would like to share, what type of genetic condition is your baby at risk for?

Anything else you would like to add:

ReadyForaB · May 2022

I thought this might be helpful for some of us!

Have you or your partner had any genetic testing? Yes. My DH.

If you would like to share, what type of genetic condition is your baby at risk for? Long QT Syndrome Type 3.

Anything else you would like to add: We found out my husband had LQT3 when he had a cardiac arrest in our home when I was 8 months pregnant with our son. He went through genetic testing and it was confirmed he carries the gene. It is a dominant gene so each child we have has a 50% of inheriting it. Several of DH's family members were tested after his positive result and several of them also came back positive. Thankfully, our DS was negative. It is a huge worry and source of anxiety for us with this pregnancy. But I keep telling myself, even if this baby does have it, at least we know. Had my husband been receiving treatment, he very well may have never had his cardiac arrest.

Anyone else dealing with anything similar?

etnyah · May 2022

Hi!

Have you or your partner had any genetic testing? Yes, both of us.

If you would like to share, what type of genetic condition is your baby at risk for? I’m not comfortable sharing what it is as it’s so rare, but when we all know each other better I will!

Anything else you would like to add: My son has a rare genetic disorder. People who have it can go their whole lives without knowing, or they can be so affected they’ll never be able to live independently, with very serious physical and cognitive issues. My son is on the milder side for now, but he does have some issues and things can change.

You can’t be a carrier of this specific disorder, if you have it you have it and there’s a 50% chance of passing it on. It can also occur spontaneously, most likely my son’s case is spontaneous. My husband and I have both been tested and are negative. We only did a saliva test however, and in order to be 100% sure we’re in the clear we’d need to do egg and sperm testing as well, since there’s also a small chance of mosaicism.

Sex cell testing is out of our budget, so we’re just crossing our fingers and hoping for the best. There’s a 1-3% chance of any future baby having the same disorder without testing sex cells. If a case is mild or severe is also random.

It’s a really low chance, but with a potentially severe outcome it’s definitely something I’ll worry about through pregnancy. We won’t know until baby is born and can get tested. It’s possible to diagnose in utero, but not possible to rule out.

(edit: typo)

ReadyForaB · May 2022

@etnyah I am sorry we have to worry. Are you in the US? We obtained blood genetic testing for free here. Not sure if blood testing would be more accurate for you or not though.

etnyah · May 2022

ReadyForaB said:

@etnyah I am sorry we have to worry. Are you in the US? We obtained blood genetic testing for free here. Not sure if blood testing would be more accurate for you or not though.

Thanks, it’s definitely on my mind. Like you though, knowing from the start minimizes a lot of risk, so if baby is the 1-3%, they’ll have a better chance than my son. He wasn’t diagnosed until 18 months and although he’s doing well, he would have been better if we had known.

I’m in the US, yes. A blood test wouldn’t be any better than a saliva test in our case since it wouldn’t rule our mosaicism. The only way to be 100% in the clear is testing sex sells which is massively expensive and not covered by insurance. We’re comfortable with the risk though.

fj0523 · May 2022

Hi All,
My husband has a balanced translocation of chromosomes 16;20. This gives me about double the change of a miscarriage from the average woman, it could or could not be passed on to our baby. If they are unbalanced the baby won’t make it. I’m 6w1d and really nervous but grateful to even be pregnant. Hoping and praying this little baby sticks.

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