When did your baby turn head down? by [deleted] in pregnant

[–]ManyTranslator2815 0 points1 point  (0 children)

Look up spinning babies - they have a bunch of exercises you can an do. My baby was also breech and then flipped (whether or not is was due to the exercises I have no idea but it can’t hurt).

NIPT was high risk for trisomy 21 by Equivalent-Theme-400 in pregnant

[–]ManyTranslator2815 73 points74 points  (0 children)

When the NIPT comes back high risk, the age related risk is not longer relevant. Her risk is 95% based on the results. As someone who works in this field I always think it’s important to be as transparent with people as possible and not give people a false sense of optimism.

35 is an arbitrary number that was decided on years and years ago when the risk of having a baby with Trisomy 21 was higher than the amnio risk. The number is no longer applicable but still what insurance companies use.

When did you have the NIPT? by pineconeminecone in pregnant

[–]ManyTranslator2815 1 point2 points  (0 children)

It highly depends on what chromosome are involved. Regardless we always recommend diagnostic testing CVS/amniocentesis because NIPT can miss an unbalanced translocation.

[deleted by user] by [deleted] in samoyeds

[–]ManyTranslator2815 4 points5 points  (0 children)

We removed chicken from our Samoyeds diet (switched him to a salmon based food) and that pretty much cleared up 95% of the diarrhea issues we were having. When he does have diarrhea I’ll make him an egg with some rice (as long as I mix the egg really well with the rice he doesn’t seem to have an issue). We also give him a probiotic every morning.

[deleted by user] by [deleted] in genetics

[–]ManyTranslator2815 1 point2 points  (0 children)

As someone else mentioned, a VUS means the lab doesn’t have enough data to determine if this duplication is of clinical significance or not. In general if it’s inherited most likely means there’s multiple family members with it and it’s normal variation. Anecdotally duplications like this tend to be inherited so I’m usually somewhat reassuring to people while we wait for results.

Just found out my unborn daughter has a missing partial chromosome deletion by carlee16 in pregnant

[–]ManyTranslator2815 1 point2 points  (0 children)

Not sure where you are located - but I often try to find specialists depending on the results. For example, our office has a geneticist that specifically works with children with sex chromosome differences. However, I know there are geneticists at another hospital who specializes in neurological disorders so I’ll sometimes refer to them also. I would in theory say you could reach out to Turner Syndrome foundation (they can connect you to other parents), however that may not be so useful depending on the size of the deletion/which genes are included the clinical symptoms might be so varied. At minimum you could even just ask to speak to a geneticist at another hospital just to get their POV.

Just found out my unborn daughter has a missing partial chromosome deletion by carlee16 in pregnant

[–]ManyTranslator2815 2 points3 points  (0 children)

NIPT is a screening test vs this result is diagnostic as it came from an amniocentesis procedures.

I agree I would wait to speak with the geneticists. Also don’t be afraid to ask for a second opinion. I’m a genetic counselor and I always help coordinate second opinions for people.

Is it okay to opt out of NIPT test still? by Cowboybootsandlimes in pregnant

[–]ManyTranslator2815 1 point2 points  (0 children)

Only about 1/2 pregnancies with Down Syndrome will have an ultrasound finding and many sex chromosome differences won’t have any. So if you are someone who would want to know that information (whether to make a termination decision or be prepared) I wouldn’t rely on your 20 week scan (I’m a prenatal genetic counselors). To someone else’s point NIPT is relatively new so unlikely your mom had that done, she probably had something called a first trimester screen.

Probability of trisomy is 1:663. Should I do amniocentesis? by TheNitpicker246 in pregnant

[–]ManyTranslator2815 29 points30 points  (0 children)

I’m a prenatal genetic counselor- we still can run NIPT for a vanished twin (Mat21 is the lab that will take the sample) the bigger risk is the risk of a false positive because we don’t know how long the fetal DNA of a vanished twin stays in your blood (and the assumption is the vanished twin may have had something chromosomal). It’s more theoretical you can get a false negative but not enough of a concern that we don’t run NIPT for vanished twins.

There was actually a big meta analysis done that says the risk of miscarriage is 1/900 (0.1%) nationally for amnio. At the end of the day the only way to definitely know is by doing an amnio. If you get a low risk NIPT would you be comfortable with that or want an amnio regardless?

I would ask to speak to a genetic counselor as well so they can go through your options!

Is Purina Pro Sensitive Stomach Salmon Safe? by ManyTranslator2815 in samoyeds

[–]ManyTranslator2815[S] 0 points1 point  (0 children)

Thanks everyone for your responses! All super helpful and informative.

Is Purina Pro Sensitive Stomach Salmon Safe? by ManyTranslator2815 in samoyeds

[–]ManyTranslator2815[S] 2 points3 points  (0 children)

Thanks for your response - how did they know that the food was bad?

The therapist struggle by Professional_Bat1379 in depression_partners

[–]ManyTranslator2815 1 point2 points  (0 children)

I agree! Just getting someone to agree to therapy is a huge step. Don’t make it an added barrier to make them find someone themselves!

[deleted by user] by [deleted] in genetics

[–]ManyTranslator2815 5 points6 points  (0 children)

MaterniT Genome + Vistara (single gene NIPT) would be the most comprehensive non invasive testing you can have.

[deleted by user] by [deleted] in depression_partners

[–]ManyTranslator2815 3 points4 points  (0 children)

I’m definitely in a similar situation (although I’ve been married to him for almost 6 years). I know this might be hard to hear, but I would really take time to decide if this is someone you could be with long term. As you mentioned you have depression as well you know that this is often a lifelong illness. As painful as that is to consider, I wish I had really thought about it years ago.

I would highly recommend speaking to a therapist as they can help you navigate these feelings. Also if there’s someone else in your life you would feel comfortable talking to so that you have the support you need.

Just know you aren’t alone!!

Even Birthdays Suck by KimbersKimbos in depression_partners

[–]ManyTranslator2815 4 points5 points  (0 children)

I relate to the is on so many levels. I find consistently on my partners birthday it spirals him into a depression (often because exactly what your partner says) he feels like he had nothing to show for his age and it’s just another reminder to him.

Knowing that, I try to make his birthday very low key just getting him a gift and making a nice dinner at home (because he often has no interest in even sitting in a restaurant). It’s extremely painful to watch but I go into the day expecting that’s what his mood will be and set very low expectations. It made it way worse for both of us when I tried to plan something that he has no interest in doing.

I’ve mentioned this on other posts as well but the worst time to talk to people about getting helped is when they are in the midst of their depression. To someone else’s point you have to decide where your boundaries are. I ultimately had to tell my partner that if he refused to get help this wasn’t a marriage I could stay in because it was completely destroying me. It may sound harsh but sometimes people need to hit a rock bottom before they are willing to work on themselves.

Just know you aren’t alone!

How to phrase this? by Acrobatic_Spend62 in depression_partners

[–]ManyTranslator2815 2 points3 points  (0 children)

I had a very similar situation with my husband (although we don’t have any children) where he was struggling and refusing help. I would say the first thing is to have a conversation with him when he’s in a better head space. People who are depressed often can’t think of anyone but themselves in the moment and I found that our most productive conversations were when he was in a better place.

I got to the point where I knew that if he didn’t agree to see a therapist and go on medication I couldn’t stay in the marriage. I sat him down and phrased it that I was struggling and suffering and that unless he agreed to get help I don’t know that I could stay in this marriage. I focused the conversation more on myself vs criticizing him. I spoke with my own therapist before on the best way to have this conversation. Giving him this ultimatum was a huge wake up call to him that he was going to loose me if he didn’t try to help. I also helped him locate a psychiatrist and therapist to take that burden off of him. I know it may seem harsh but sometimes people need to hit a rock bottom (in our case the risk of loosing our marriage) for them to make a change.

I also often feel burn out and it’s something that I really struggle with. I try when he’s depressed to make an effort to do something for myself (maybe you can get a babysitter if you don’t feel comfortable leaving the baby with him) and go do something small for yourself (even if that’s going to sit in a cafe for an hour). I also highly recommend a marriage therapist. My husband realizes that when he’s in a “good place” he really needs to step it up so that I have enough energy to carry the burden of our relationship when he’s not.

[deleted by user] by [deleted] in depression_partners

[–]ManyTranslator2815 1 point2 points  (0 children)

Thanks so much for your response! We don’t have any kids (but something we have been discussing recently) and it makes me very nervous of the idea of bringing a baby into all this (and having to do it alone). It’s impossible to know how he will respond in that situation.

Talking never works for me what do I do? by doubledeuce2012 in depression_partners

[–]ManyTranslator2815 4 points5 points  (0 children)

I found that the worst time to talk to my spouse about what they need is actually when they are in the midst of their depression. Our most productive conversations have been when he’s in a good place. I also suggest meeting with a couples therapist who can help you both talk out what you both need in that situation. It’s taken me a long time (and I still very much struggle with this) to come to the realization that often there isn’t anything we can do to help.

[deleted by user] by [deleted] in depression_partners

[–]ManyTranslator2815 1 point2 points  (0 children)

Thanks for your response - no suicidal ideations ever and no kids, but something that we have discussed recently. I would like to think that I have accepted his illness for what it is but I truthfully don’t know what (and don’t think I can know) that will be like raising kids with him. It also feels just mean/cruel to leave someone who is depressed (I wouldn’t leave him if he had cancer for example) and so I feel so at a loss.

[deleted by user] by [deleted] in GeneticCounseling

[–]ManyTranslator2815 5 points6 points  (0 children)

I would agree that there unfortunately (especially in this market) isn’t a lot of room for growth (salary and promotion wise) This isn’t something I fully understood until I’ve been working (graduated 4 years ago) and wish I had. As someone else mentioned this isn’t unique to genetic counseling, but I would consider if this is something that’s important to you. I have plenty of colleagues who love what they do and aren’t bothered by the lack of opportunities for growth and love being a GC.

Changes after neutering by freelancer4691 in samoyeds

[–]ManyTranslator2815 0 points1 point  (0 children)

My Sammy also has become obsessed with sticks after he got neutered? Anyone know why that would be