u/chichirescue

Hi all,

Hoping folk with similar results can share--

I had a karyotype recently after 3 IVF cycles and a recent aneuploid pregnancy that ended with termination. The karyotype only sampled 20 cells, but it showed 20% X and 5% XXX and 75% XX. I don't have any classic signs, I had normal periods, am above average in height, good fertility numbers but below average quality and euploid rates (I've had all aneuploids so far which is below average for my age). I had never gotten pregnant naturally, but husband has male factor and I also have significant endometriosis, so I thought that may explain it. My REI suggested the karyotype just to make sure there weren't other factors at play with aneuploid results and our history of infertility.

It's possible there could be subtle physical signs, like a minimally broad chest or thicker neck, but I also could be wrong. ,. As a child, I had recurrent ear infections, obesity (and as an adult - but thank goodness for the GLPS). I have hashimotos, mild scoliosis, functional ADHD, terrible depth perception some other autoimmune issues, dental crowding and thin enamel issues despite good care of teeth. Most of these are pretty non specific

Lab corps originally said "likely to be age related X aneuploidy" but the IVF genetics team picked up on the findings and even there explanation made no sense. It's above average monosomy X, there was no commentary on the XXX cell line. I'm 40, so this is way above the cut off for normal age related X aneuploidy, and the presence of an XXX is more suspicious for a real mosaicism.

With that said, have any of you had a preliminary karyotype with 20% monosomy X, 5% XXX (this is more rare based on what I've read) and either done an expanded karyotype or more confirmatory testing? What did it show? Did the percent mosaicism change? Were there any unexpected results (like addition of Y).

I will get a genetics consult, do cardiac clearance and I'll push for better or more confirmatory testing because I'd like to know what's what, but until then, I appreciate hearing your stories.

Hi all

I posted before. I have the +21 from qnatal. Does anyone know of physicians in the northest or New England US that offer early amnios at 13-14 weeks?

I am waiting for my CVS fish and karyotype. I anticipate it being positive but I just wanted to see if there were any options to obtain an early amnio.

Thank you

Hi all,

It's been an incredibly long road to get here. I am pregnant for the first time at age 40. I am 10 weeks 6 days today. Everything has looked perfect until this test. My last ultrasound was at 10w3days. But from what I read here that's not unusual for the ultrasounds, especially the early ones, to be completely normal.

My nipt qnatal via quest is + for trisomy 21 (fetal fraction was 11.7%, completed at 10 weeks) I am assuming it is accurate and waiting for the mfm referral from my OB. I will terminate if confirmed (please don't suggest other options). I would like to schedule the CVS asap. I want to get this nightmare over with as soon as possible.

In an ideal world, I would insist on an amnio before considering medical termination but I don't think I can handle waiting another 1.5 months if it's confirmed +21.

I didn't realize it but it seems like the CVS could show mosaic findings, as well? In rare chance it's an unusual finding, I may consider amnio, but most likely I anticipate a confirmation of a true trisomy via CVS.

I am really hoping they can accommodate me this week.

How long does the CVS testing take?

Thank you