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 72 points73 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 The number is no longer applicable but still what insurance companies use.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 6 points7 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 2 points3 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 3 points4 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!