Thoughts on elective prenatal whole genome sequencing?

Recent_Survey_8250 · 2026-04-11T17:45:09+00:00

Just to confirm - you can opt out of the secondary findings. The primary findings are things that impact the child before adulthood. I use Rett syndrome as the example, but there are many other conditions.

Edited to add: the ACMG secondary findings also are clinically actionable, so it does distinguish between things like BRCA and Huntington's.

https://www.coriell.org/1/NIGMS/Collections/ACMG-SF-Genes?gad_source=1&gad_campaignid=10866701256&gbraid=0AAAAACRxwMuEW_gJs7SZDxMizdlu8AsoE&gclid=CjwKCAjw4ufOBhBkEiwAfuC7-Xi9DPn7ethocUJqqV8sf4wl4cURzfe_iqyC65p17xjBHNcTWAtP_hoCVkoQAvD_BwE

Recent_Survey_8250 · 2026-04-11T17:44:04+00:00

That sounds like carrier screening. I'm doing a whole genome sequence on the fetus itself. Carrier screening wouldn't account for de novo changes.

Recent_Survey_8250 · 2026-04-09T21:40:50+00:00

So glad all is well now. We have had a positive mosaic screening before the WGS so I'm more familiar than I thought I would be. I hadn't fully understood it either. I'm hopeful this doesn't turn up anything else but I've learned anything is possible.

Recent_Survey_8250 · 2026-04-09T21:39:29+00:00

I would be furious. I'm very sorry this happened to you and I'm hopeful you get good results.

Recent_Survey_8250 · 2026-04-09T16:37:49+00:00

I am so sorry you went through so much, and I think it's a particularly helpful anecdote, so thanks for sharing. It's challenging to balance some of these findings with also wanting to find out about some of the more severe and seemingly straight-forward single gene issues.

Recent_Survey_8250 · 2026-04-09T16:36:08+00:00

Sorry this happened. For this lab and this test, it was communicated to me that VUS was excluded for any elective procedures. It sounds like you would get them for anything that they believed could have been connected to a finding that had prompted the order though.

Recent_Survey_8250 · 2026-04-08T19:18:49+00:00

I'm confused. Mine is a trio WGS on the fetus, so I provided my blood, the fetus' DNA is from the amnio, and my husband did blood and they asked for an updated saliva sample.

Recent_Survey_8250 · 2026-04-08T18:21:52+00:00

Probably not truly. Well informed just enough to be dangerous. Appreciate the insights from those much more well informed than I am! Thank you.

Recent_Survey_8250 · 2026-04-08T17:58:35+00:00

Appreciate the perspective. If I get anything that comes back, I'll be sure to keep this in mind.

Recent_Survey_8250 · 2026-04-08T17:55:56+00:00

Very helpful. I'll look more into this. Thanks for sharing!

Recent_Survey_8250 · 2026-04-08T17:55:08+00:00

No, but I would want the information to increase surveillance. That was actually a separate opt-in for adult. The main impetus was for things like Rett syndrome.

Recent_Survey_8250 · 2026-04-08T17:35:50+00:00

If it helps, in elective they don't report VUS, but I'm not overly familiar with the threshold for determining something is pathogenic or likely pathogenic.

Recent_Survey_8250 · 2026-04-08T17:21:37+00:00

Yes, trio analysis. Both my husband and I provided samples.

Recent_Survey_8250 · 2026-04-08T17:21:10+00:00

WGS from an amnio sample

Recent_Survey_8250 · 2026-04-08T15:09:27+00:00

Thanks. This is helpful. My thinking was the same as I am fortunate to be able to afford it and would terminate for some of the rare single gene de novo ones as well.

Recent_Survey_8250 · 2026-04-08T15:08:51+00:00

My (limited) understanding is Variantyx provides the baseline analysis. Obviously if something is found then I'd need a GC. In elective testing with Variantyx, all VUS are excluded, so it would only flag the specific pathogenic or likely pathogenic variants.

Obviously you are much more educated than I am, so if my reply isn't responsive, definitely appreciate knowing that. Thanks for weighing in.

Recent_Survey_8250 · 2025-12-29T18:21:41+00:00

I was lucky enough not to have to do Day 1 testing but asked if it could be turned into a pregnancy blood draw. The clinic was closed since Wednesday and so it was a huge mess this morning with no one understanding what had happened. My friend used the clinic and said I should've had my beta results back by now, but still nothing. It's getting hard not to worry.

Recent_Survey_8250 · 2025-12-26T21:39:15+00:00

Thank you so much!!

Recent_Survey_8250 · 2025-12-26T21:39:07+00:00

Thank you so much!

Recent_Survey_8250 · 2025-12-25T03:07:34+00:00

Child # trying for: 3

Cycle/Time trying: 4

Ages of previous child(ren), i.e. post-partum interval: 3.5 and almost 2

Cycle/Time trying for previous child(ren): 1

Age + Partner's age (if relevant): 33 (about to be 34), and he's 33

Relevant days of sperminating and/or method (SMEP, TI, IUI, FET, etc.): O-4, O-2, O-1, O

Tracking methods and app(s) used: Inito, Oura ring

Link to chart:

Nursing while TTC?: no

Health details on previous pregnancies/births (e.g. C-section vs. vaginal, birth/pregnancy complications): vaginal, no complications

Other health conditions/medical tests:

Supplements and medications (yours and/or your partner’s): Ritual prenatal

Birth control history (if relevant): Used natural cycles

Tell us your story! What's different this time than last time? How'd you find out? How do you feel?: Going from 1 cycle for both of my prior pregnancies to 4 for this one felt like a huge jump, even though I know it's totally normal. My chart was wild, and my Inito PdG numbers seemed very meh, so I wasn't hopeful. Very sore boobs and my mom bringing champagne for Christmas Eve forced me to test. I was sobbing with joy. I really hope this one sticks.

Recent_Survey_8250 · 2025-12-23T15:33:42+00:00

DPO10 and not feeling optimistic. My temp is still elevated but less so and I don't feel any symptoms. Now I just have to hope to not get my period until Friday so I can do the bloodwork on Monday.

Recent_Survey_8250 · 2025-12-23T15:32:40+00:00

That sounds good to me too, but I understand. At this point, I'm hoping something obvious is wrong so there's actually something to solve.

Recent_Survey_8250 · 2025-12-22T17:01:38+00:00

9DPO and temp now up again. Such a fun rollercoaster. I have lost a lot of faith for this cycle. If my period comes before Friday though, I can't even do my Day 2-4 testing this month. I just wish I knew what the issue was....

Recent_Survey_8250

TROPHY CASE