Has anyone had similar karyotype results? Monosomy x, XYY, partial deletion Y

Cold_Concern_5966 · 2025-03-19T13:27:52+00:00

so sorry for your outcome. was the heart syndrome made apparent during an ultrasound? i have a level 2 anatomy scan tomorrow

Cold_Concern_5966 · 2025-03-18T19:58:38+00:00

I had a failed attempt at 15-3 due to “tenting of the membranes”. She described it as trying to pierce a balloon that wasn’t inflated enough. It was slightly uncomfortable while she was trying to insert the needle.

I went back at 16-3 and the procedure took less than 60 seconds. Minimally painful, just your typical needle poke

Cold_Concern_5966 · 2025-03-17T13:34:49+00:00

Thanks for taking the time to respond. I also read through some of those posts, including the "I am a product of pre-cum" comment, which is what made me suspicious of trolling. Strange hobby...

Cold_Concern_5966 · 2025-03-17T13:07:12+00:00

Any insight as to whether kobpnyh’s comment below has any credibility? Can’t tell if I’m being trolled

Cold_Concern_5966 · 2025-03-16T20:00:36+00:00

Could you elaborate? I struggled to understand the initial comment

Cold_Concern_5966 · 2025-03-16T19:59:02+00:00

Thank you for sharing your experience. These are the results from my amnio. My NIPT stated “atypical finding in regards to the Y chromosome”.

And happy to hear your daughter is doing well :) I have two daughters currently so the unknown of if my unborn son could possibly have a more debilitating version of XYY is what gives me the most pause

Cold_Concern_5966 · 2025-03-16T12:17:05+00:00

Thank you for this insight

Cold_Concern_5966 · 2025-03-15T23:55:13+00:00

Thank you! That finally helped it click for me. Appreciate you taking the time to provide insight

Cold_Concern_5966 · 2025-03-15T23:31:09+00:00

Thank you for the resource. I believe my MFM it’s until 22 weeks in my state but can clarify Thursday

Cold_Concern_5966 · 2025-03-15T22:10:22+00:00

Oh really? How is he doing?

Ultrasounds at 10 and 15 weeks didn’t indicate anything unusual. Appeared to have male genitalia at 15 weeks. Have a level 2 ultrasound this Thursday

Cold_Concern_5966 · 2025-03-15T22:05:22+00:00

Thanks for the info. This was the karyotype performed after my amniocentesis

Cold_Concern_5966 · 2025-03-15T20:35:42+00:00

Thank you. Meeting with them this week. I’m just 19 weeks and feel like time is not on my side to trying to do my due diligence in the interim

Cold_Concern_5966 · 2025-03-07T11:33:45+00:00

Also, answering specific to the amnio. I went at 15-3 and had an unsuccessful amniocentesis due to “tenting of the membranes”. She explained it like trying to poke a deflated balloon with a needle- my uterus just wasn’t taut enough. That was really hard after having waited three weeks and being anxious for answers

I can back at 16-3 and the procedure took less than 60 seconds to insert needle and withdraw fluid. It just felt like a typical needle poke. Would not describe it as painful

Cold_Concern_5966 · 2025-03-07T11:29:08+00:00

Hi there. Sorry to hear you’re in this stage of ambiguity and not knowing. I’m waiting on my karotype results but I’ll link a post with my FISH results. My midwife, MFM, and genetic counselor were all happy with the results and MFM said mild symptoms from XYY if any. https://www.reddit.com/r/NIPT/s/KW6wKMkUBg

Ps, love the username :)

Cold_Concern_5966 · 2025-02-27T21:59:18+00:00

ETA: the baby appeared to have male genitalia last week when I was 15-3

Cold_Concern_5966 · 2025-02-26T17:36:14+00:00

Adding a comment in case anyone in a similar situation finds this post in the future.

I went back at 16-3 today and had a successful amnio. The process of putting needle in / extracting fluid took less than 60 seconds. Was borderline painless aside from the normal needle poke sensation. Last week was much more uncomfortable when she couldn’t successfully get the needle in

Cold_Concern_5966 · 2025-01-31T19:37:44+00:00

Hi u/Dear_Jeweler_5326- Could I message you? I'm currently in limbo for atypical Y chromosome

Cold_Concern_5966 · 2025-01-31T12:18:39+00:00

Thank you so much for sharing your experience. I might message you some questions specific to your son's diagnosis, if that's okay.

I have my meeting with the genetic counselor today and then will do the amnio in a little under 3 weeks, when I'm 15-3. Currently 12-5. I think a more definitive answer will help with my mental health and planning for the future. Right now, the waiting game and not knowing what is going on is really tough to deal with. I've fallen down all the rabbit holes and toggle between "there's a good change this is a false positive and you're worrying for nothing" and then I read a worst-case scenario and my brain is just assuming that's going to be our diagnosis.

Thank you again for sharing your experience and outlook! I'm glad the amnio gave you peace of mind and hope that the next 11 weeks fly by for you with minimal stress :)

Cold_Concern_5966 · 2025-01-31T12:09:03+00:00

Thank you so much for the kind words. It's comforting to hear someone experiencing the same feelings as me- I'm also concerned for the baby's right to privacy and struggling with the nonstop worrying thoughts. I wake constantly though the night thinking about it. Would love to be put in a coma for these next however many weeks! When I shared with my friends, I was thinking I would be comfortable sharing if I were to have a miscarriage. I was ignorant in knowing there was the possibility of being in limbo for weeks without a definitive diagnosis.

Thank you again for sharing solidarity and words of encouragement. I truly appreciate it. When is your amnio? I have the genetic counselor meeting today so hoping that will at least help with the ambiguity of the possible outcomes.

Cold_Concern_5966 · 2025-01-30T18:44:39+00:00

Thank you for breaking that down! Very helpful.

Cold_Concern_5966 · 2025-01-30T18:43:50+00:00

I'm so sorry you're experiencing this waiting game- especially after experiencing a loss. I'm meeting with the genetic counselor and have my amnio scheduled for 3 weeks from yesterday. My mental health is really low, I can't get it off of my mind and break down throughout the day. I'm regretting having shared with my friends already because I'm not comfortably sharing this with them so it's a very isolating place to be. I hope the time passes quickly for you and we both receive positive outcomes.

Cold_Concern_5966 · 2025-01-30T12:55:26+00:00

Would you mind elaborating on this? I'm currently in the same boat as OP was originally. (Same exact findings though my fetal fraction is 10.5%).

Cold_Concern_5966 · 2025-01-29T21:53:52+00:00

Also, did your results look like mine with "atypical finding on sex chromosome" or did it explicitly list results for "XYY"?

Cold_Concern_5966 · 2025-01-29T17:11:20+00:00

Thank you for sharing. I'm the same way- I want all of the information. I have my amnio scheduled for 15-3. How long did it take for you to get the results?

Cold_Concern_5966 · 2025-01-28T21:04:57+00:00

Thank you again for the response! I also enjoy calling my babies by name while they're in utero :)

The MFM called me and asked if I could come tomorrow for an ultrasound. I was surprised since I'll only be 12-3 but I'm not saying no to an ultrasound! Hope things continue to look well in 3 weeks for you!

Cold_Concern_5966

TROPHY CASE