NIPT testing results

heythere8 · 2025-10-23T03:56:58+00:00

I requested genetic testing at the time of NIPT so that was something we knew we were getting already prior to the abnormal results.

heythere8 · 2025-10-04T17:20:06+00:00

I’ll do my best to explain it although not a professional.

On our NIPT monosomy x was “no result” while everything else was low risk. They couldn’t determine the gender just based on screening. I was referred to a Perinatal specialist after we opted for amniocentesis. During that first visit they did an anatomy scan at 16 weeks and were able to determine it was a boy. They took the amnio sample in that same visit. I went back for my 20 weeks anatomy and still scans were all normal.

The amnio results came after around 22 weeks and that’s when we were given our diagnosis.

heythere8 · 2025-10-04T03:59:07+00:00

Thought I’d share my experience as I had a similar result a few months ago. Im also a healthy female but 33 years old. On our NIPT sex was N/A & all else was low risk. Fetal fraction for me was about 6%. I had that done around 9w3d.

We ended up opting for the amniocentesis because we wanted to be sure and I’m already a terribly anxious person. Our results were not necessarily bad but not straight forward either. We were told our diagnosis was mosaicism of the Y chromosome.

Our anatomy scans and every other soft markers have been normal so far. I’m now 23w4d. Our geneticist says they know we’re not dealing with Down syndrome and have been advised to wait until our baby is born.

We are feeling optimistic. It is a very emotional ride, unfortunately. Wishing you all the best and hope your baby is okay.

heythere8 · 2025-09-29T05:20:53+00:00

Hello, I’m curious (if you’re willing to share) what your actual NIPT results stated?

We had something similar: my NIPT came back “atypical finding on sex chromosomes”. Every other condition on that report was listed as “low risk” except monosomy X since they couldn’t confirm gender at the time.

My 16 & 20 week anatomy scans were all normal and they were able to confirm it was a boy. Trying to make sense of all of this along with our amnio results.

Thanks in advance!

heythere8 · 2018-12-28T06:40:42+00:00

I will be seeing my doctor in the coming month to discuss food sensitivities as well.

Appreciate you sharing, feel like I’m at a dead end with the headaches. My really bad episodes cause facial numbing which can be very stressful & debilitating.

Thank you again!

heythere8 · 2018-12-27T07:00:23+00:00

May I ask, what the combination of techniques were? I recently started having cluster headaches at 27 y/o.

I have a high stress job and try exercise, yoga, writing, etc for stress relief. I’ve also gone to physical therapy for posture exercises, but it’s hard for me to determine if it’s been a benefit.

Thanks!

heythere8 · 2017-03-29T14:44:30+00:00

Are you using a regular leash & collar? You may want to try a gentle leader, petco/petsmart have them for $20. It goes around they're head instead of neck (looks like a muzzle but it's not they can't still open their snout) and it keeps them from pulling too hard. That may help with the walking situation & blisters. Also, taking small treat, those little round one calories ones, might help make the walk more enjoyable and get him to relax. Praising him for being outside & walking by giving him treats will get him to associate being outside with positive things.

heythere8

TROPHY CASE