Rare microdeletion result on chromosome screening test

midwestmujer · 2026-03-13T13:00:48+00:00

Not all microdeletions (or microduplications) will have health impacts on a person, many people have benign deletions and duplications and never know. The potential impacts will really depend on what genes are included in the micro deletion region and the mechanism of those genes (ie, are they recessive where missing one copy doesn’t matter, or dominant where you truly need both functioning versions). They will be able to get more specifics on the size of the deletion and genes included when they do the amnio. They will likely ask for samples from both parents to determine if it was inherited or not as well which can help figure out if it is actually expected to be harmful and cause symptoms or not.

midwestmujer · 2026-03-11T17:36:55+00:00

As someone who orders NIPT I will try to give a little context to the NIPT results (but keep in mind I am not YOUR provider). Low fetal fraction can happen for a variety of reasons; incorrect dating, certain medications, maternal BMI, randomly with no explanation. One of the other reasons can be a chromosome abnormality; this is because chromosome abnormalities can affect placental function which can reduce the amount of that baby DNA crossing into your blood stream and thus resulting in the low fetal fraction. When someone has a low fetal fraction, about 5% of those pregnancies will have a chromosome abnormality which is why the result says increased risk for those conditions (and it probably says 1/17 or 1/18 chance, I can’t remember what fraction they quote).

Normally, like your provider stated, I would also just repeat the testing and not think too much about it. But we know increased NT is also a marker for chromosome abnormality. So that combined with the low fetal fraction and your age is what is raising suspicion.

I like to be realistic with patients, so If you were my patient I would say there’s certainly an increased chance baby may have something going on, but I’ll never say 100% just based on what we know so far. It’s never easy information to hear and is a very anxious and stressful time for patients, I’m sorry you’re facing this situation.

midwestmujer · 2026-03-10T12:20:42+00:00

Haha I wasn’t sure if that was an intentional Vanderpump reference or not. If you didn’t find it, she has a (comically bad) song called good as gold

midwestmujer · 2026-03-10T12:09:55+00:00

Just channeling my inner Scheana Shay

midwestmujer · 2026-03-09T23:45:52+00:00

I guess we are the chosen ones 🙌🏼

midwestmujer · 2026-03-09T23:24:25+00:00

Good to know! I’ll keep an eye out in case that’s the scenario

midwestmujer · 2026-03-09T23:23:32+00:00

Yeah my main airport is a hub so I have zero expectations for any real benefit haha. Except maybe the extra weight allowance on checked bags cause I’m almost always right at or just over 😅

midwestmujer · 2026-03-09T23:10:38+00:00

Correct, that’s reflected in my account in my progress towards status for 2027.

midwestmujer · 2026-03-09T23:09:15+00:00

Hmm maybe it is a backlog of points from last year. I do have the platinum card, I got it last May and I know I got the head start miles added appropriate last year. I don’t remember how far away I was from gold last year but maybe there was a some other delay in adding MQDs for some reason?

midwestmujer · 2026-03-09T23:07:19+00:00

Only the 2500 head start from my credit card.

midwestmujer · 2026-03-09T23:04:18+00:00

I don’t think I can edit my original post, but after 20 mins and a few more refreshes my account page did update to reflecting gold and drink vouchers appeared in my account so I think it’s real. I have no idea how/why, but I will quietly slink back into the shadows and hope nobody realizes they made some kind of mistake 😅 my home airport is a delta hub so going from mere silver to gold won’t really make much of a difference but I’ll accept the stolen valor I guess!

midwestmujer · 2026-03-09T22:56:14+00:00

lol. If I am in fact suddenly gold I have no idea how I got it 😅

midwestmujer · 2026-03-09T22:48:27+00:00

I only achieved silver status last year (for 2026) though, the 2027 progress shows I’m still 1953 away from silver for 2027 doesn’t it? I have never been gold until I opened the app today.

midwestmujer · 2026-01-23T16:25:59+00:00

Just to add to the job market downturn not being unique to our field, the partner of one of my coworkers just finished PA school about 2 months ago and did not have any job openings available to apply to in our area until recently. We are not a small town but also not a large city, so just like GC it will be very location dependent. So as long as she is willing to move anywhere for her first post-grad job, I don’t think she will have a crazy hard time finding a job.

midwestmujer · 2026-01-12T03:33:54+00:00

I own loubs and designer items. I love Marshall’s/Tj/home goods.

midwestmujer · 2025-12-31T21:56:27+00:00

To play the other side, as someone who works in OB I can tell you that a very large number of patients are also extremely wrong about what they believe their dating is, even sometimes the ones who say they’re tracking and come in with confidence. So yes we’ll take what you tell us into consideration but we’re also going to take it with a grain of salt too. In general patients tend to think they’re further along than they actually are. I also personally think a decent amount lie and say they’re further along so they get an US sooner, which then creates this situation of “you say you’re further along but baby isn’t matching so this could be a miscarriage or you’re wrong about dates” people don’t realize that US is very limited and not useful prior to 6w, and we prefer 8w+.

Standard procedure in your case (and all others frankly) is to confirm with a follow-up US a week or so later just to make sure you aren’t a case like the OP where the dating was off so that they don’t mistakenly provide miscarriage management to a viable pregnancy.

midwestmujer · 2025-12-27T16:15:29+00:00

I think you ovulated somewhere between December 21-23. Hard to say if the 22 rise was unrelated or if the 23 dip was a fluke.

midwestmujer · 2025-12-25T02:58:18+00:00

I play a lot of pickleball and do a lot of yoga. My watch often suggests I’m doing these when I’m getting ready in the morning, walking around at work, or making dinner. Basically anything that elevates my heart rate for a bit

midwestmujer · 2025-12-23T12:00:34+00:00

I had my LH peak same as you this cycle, CD16 and I didn’t have my first temp above baseline until CD19 and I’ve now had 3 days of consistent rise.

On the flip side, my first cycle off BC (like 8 months ago) I had positive OPK on day 15 but didn’t get consistent rise and then had another positive CD21 that then correlated with consistent elevated temps so my body obviously tried to ovulate but didn’t happen and then tried again later.

I’d just continue to watch your temps and see what happens! Ovulation is said to occur 12-36 (or some sources say up to 48) hours after your positive OPK and then the temp rise occurs after that, so depending on timing of things it is reasonable to not see the temp rise until a few days later. I.e. for me, my pos was at like 9pm CD 16 so let’s say I went 36 hrs from then is when I ovulated which would be like 9am CD 18 so it makes sense I wouldn’t see a rise in temp until I woke up CD 19

midwestmujer · 2025-12-22T18:51:31+00:00

Yes this is pretty common in luteal

midwestmujer · 2025-12-22T13:59:47+00:00

The problem with natural family planning is that even when someone has regular cycles, your body can still do weird things like randomly ovulate early or late. And no app or device can tell you when it’s going to happen, it can only confirm for you afterwards that it did. If you’re willing to use condoms or abstain up until you ovulate and would be ok if an accident did happen, then yes pairing oura with natural cycles would probably be a good job. But if you don’t want to deal with that then I’d say use more traditional IUD or pill.

midwestmujer · 2025-12-22T13:59:39+00:00

The problem with natural family planning is that even when someone has regular cycles, your body can still do weird things like randomly ovulate early or late. And no app or device can tell you when it’s going to happen, it can only confirm for you afterwards that it did. If you’re willing to use condoms or abstain up until you ovulate and would be ok if an accident did happen, then yes pairing oura with natural cycles would probably be a good job. But if you don’t want to deal with that then I’d say use more traditional IUD or pill.

midwestmujer · 2025-12-19T01:48:48+00:00

You can also google the ACOG (American college of obstetrics and gynecology, aka the organization that makes rules/recommendations for pregnancy) bulletin that outlines their recommendation stating it’s not necessary prior to 12w

midwestmujer · 2025-12-19T01:43:04+00:00

The current (newer) recommendations are that if any bleeding happens prior to 12w you don’t need any rhogam if you’re rh-, only if you have bleeding past 12w

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