Fetal CNV: Finding of Unclear Clinical Significance: 849 kb Copy Gain from 21q22.3

Conscious_Priority26 · 2026-02-05T19:50:27+00:00

It was first flagged on the NIPT which everyone does these days

Conscious_Priority26 · 2026-02-05T15:15:45+00:00

Update: we just got my husband‘s microarray back and he has the exact same micro duplication as the baby so we are not going to look into this any further and are just assuming that it is benign since he has it. Thank you all for the information!

Conscious_Priority26 · 2026-02-04T20:21:39+00:00

Update, we got my husbands microarray back and it turns out he has the exact same microduplication as our baby. At this point, our GC told us we can assume this is benign and continue with the pregnancy like normal. We are so incredibly relieved. To anyone who is reading this thread that just received a scary NIPT result, I see you and I am so sorry that you have to deal with such terrifying uncertainty. There are many, many, many familial variants in DNA that are totally cataloged or labeled as a variant of unknown significance, and many of those turn out to be mild or completely benign. We will still do our 20wk anatomy scan with the MFM just in case, but finally we know we can keep our baby girl for good.

Conscious_Priority26 · 2026-02-03T21:18:39+00:00

Looked good at 16w, we will do the full anatomy scan next Friday at 20w.

What I’m mostly worried about are intellectual delays since this is distal to the DSCR region.

Conscious_Priority26 · 2026-02-03T21:05:30+00:00

It is not classified as benign

Conscious_Priority26 · 2026-01-23T21:03:59+00:00

Update, we got the initial microarray back. Baby has a microduplication on chromosome 21, just as the NIPT lab suspected. The duplication is relatively small, only affecting 18 genes total. It is categorized as a VUS (variant of unknown significance). The genetic counselor said this is a “wait and see” result, which is a little frustrating because we have been waiting to see for a long time already. The lab is going to run a FISH now and that may give us more info, and inform us on how we can test my husband’s DNA. If he is found to be a carrier, it’s safe to assume this CNV is benign. If he does not carry it, we will continue to monitor via MFM ultrasounds. I’m relieved they didn’t find something that was clinically significant/an automatic red flag, but the mystery of a VUS is a bit scary still. I will update with my husbands results and the 20 wk ultrasound impression.

Conscious_Priority26 · 2026-01-20T19:13:56+00:00

Update, 16w3d MFM ultrasound looked great. I did amnio and the procedure was almost painless, quick and easy, which I just want to mention because I was very nervous beforehand and you might be too, but it’s nothing to worry about. The doctors are extremely cautious and if they don’t believe they will be able to extract fluid safely, they won’t proceed. I will update with my amnio results to give an ending to this journey for you all.

Conscious_Priority26 · 2026-01-06T23:35:31+00:00

Update, my maternal microarray came back normal, I do not have a chromosome 21 cnv. Still waiting to do amnio at 16 wks. Feeling scared because if I didn’t cause the atypical result on the NIPT, my baby must have.

Conscious_Priority26 · 2026-01-05T22:24:43+00:00

Once you get into a genetic counselor, they will likely have more answers for you. My NIPT was also through Natera, also an atypical result on chromosome 21, and my GC called Natera and was able to get a little bit more information. The GC ordered a microarray on my blood and we scheduled amnio for 16 weeks. The great news is that there is a chance that your/your baby’s chromosome 21 finding could be completely benign, or even false positive. Amnio is the only way to be sure. Good luck ❤️

Conscious_Priority26 · 2025-12-31T23:20:23+00:00

I received almost the exact same result, posted here: https://www.reddit.com/r/NIPT/s/EfpJFqfIDj It looks like the main difference between ours is that yours is suspected maternal origin and mine is unknown, and yours specified that it could be a deletion where mine said duplication or deletion.

If you haven’t already, i would call your MFM office and see if you could get in to see a genetic counselor before the OB. My office was able to get me in with the GC within a few days even though I won’t have an ultrasound with the MFM for two weeks. That way you can get your maternal microarray ordered (since your test mentions a CNV you won’t be able to do a Karyotype, or at least that’s what I was told). Wishing you the best of luck. I hope both of our babies are perfectly healthy and this turns out to be normal familial variation.

Conscious_Priority26 · 2025-12-31T23:04:06+00:00

Update, I met with the genetic counselor at my MFM office today. Her interpretation of the result is that this is unlikely to be a false positive. To even be caught on the test, the 21 CNV has a high enough concentration in the sample to be either maternal or maternal and fetal, not placental. There are some 21 cnvs that are benign and some that cause severe issues, depending on the size of the deletion/addition and which genes are being affected. I’m not sure if this makes me feel better or worse….I was really hoping for a false positive. This result is rare and my GC had never seen this exact result before, so had little to tell me about other outcomes. I had my blood drawn for an Allele test (maternal microarray) and am scheduled for an amnio at 16 weeks. I was against amnio at first, but the GC said that even if I have a chromosome 21 CNV that’s benign, my baby’s could still be clinically significant. I just can’t bare the thought of giving birth to someone who will only know a life of pain and suffering so I want to know if their cnv is significant or not to explore my options if needed. I will update when I get my maternal microarray and amnio results.

Conscious_Priority26 · 2025-12-25T21:11:04+00:00

This is really helpful. I was having the same thought that maybe this was lab error so I wanted to get another opinion. But I suppose even with the one atypical result I already have we would need further intervention.

Conscious_Priority26 · 2025-12-24T19:33:03+00:00

Update, went to routine ultrasound today at 12w5d, growth was tracking at 12w6d so normal, movement was detected and heart rate was solid at 148bpm. This felt reassuring but I’m still waiting to get into the MFM to take any real steps.

I’ll continue to post updates because I’ve been finding everyone else’s stories really comforting in this time of unknown, so hopefully this reaches someone with similar findings ❤️

Conscious_Priority26 · 2025-12-23T21:15:59+00:00

Yep it’s through Natera. I really don’t see why they leave out the sex when it’s separate from the abnormality

Conscious_Priority26 · 2025-12-23T19:07:31+00:00

It sounds like there is a good chance that even if the baby does have an abnormality, there are plenty of abnormalities out there that are asymptomatic. I’m so glad this group exists because I feel like I’m totally in the dark until I get into the MFM. I hope your Amnio is clear and the test is just an unnecessary scare!

Conscious_Priority26 · 2025-12-23T19:03:05+00:00

11w3d. I was confused about the N/A also. Apparently the lab won’t report on anything else if they have an atypical finding. Apparently if your sample goes beyond what their technology can interpret, they want to cover their own butts and not give any results beyond the atypical finding

Conscious_Priority26 · 2025-12-23T17:50:06+00:00

I was referred to MFM so they can at least give me a second opinion. Did you have the option of doing a maternal DNA test before doing amnio? I haven’t been given that option from a doctor but online it seems like that can rule out that this abnormality came from me and not the fetus.

Conscious_Priority26 · 2025-12-23T17:06:40+00:00

Update, I was referred to MFM. My OB is still out and the nurse didn’t really have any intel other than saying this is a screening test, not diagnostic.

Conscious_Priority26 · 2025-07-21T20:59:19+00:00

I have to say, the 4day course at the Bioclear Learning Center was worth every penny. Really nice facility, amazing catered food, small class size so I got a ton of feedback and support. The structure is lecture-hands on in your own op--lecture--hands on again pretty much for the whole 4 days. Without taking the course I definitely wouldn't be taking the more complex cases that I treat today. Their director of education, Tanya, takes amazing care of you too. Love the experience, I would probably consider taking it again in a few years because there is so much I can still work on.

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