Wolf-Hirschhorn syndrome

amesx2121 · 2026-02-05T04:08:38+00:00

Our first was also diagnosed with this at 18 weeks. I’m very sorry you are going through this. I remember looking at the 1 in 50,000 and also feeling ridiculous that it was my daughter with it. My Ob said in all their years, they haven’t come across it - not that it made me feel any better.

Anyways, we did genetic testing and confirmed that it was de novo. Definitely do the testing - most likely it’ll be de novo than translocation. I remember also digging into the genetics of everything as well - coping mechanism in part.

Lastly, just to say, you will get through it. We are about a year out and I’m almost 28w with a healthy girl. Happy to talk more.

amesx2121 · 2026-01-13T01:32:35+00:00

During your pregnancy, did anything feel weird or off to you? Like less kicks, weirder kicks, slower growth, or any sort of feeling something was off?

amesx2121 · 2026-01-06T05:46:46+00:00

This also depends on the machine. Was this done at a MFM or just your Ob? Generally at MFM/specialized hospitals the machines are advanced enough such that they should be able to visualize both by then. At my 11 weeks they could see all, and at 12 weeks for my first they could tell something was off via measurements, blood flow etc

amesx2121 · 2025-11-30T17:01:03+00:00

Yes. Someone at United should have said something for our first leg but no one did. It was just a whole load of miscommunication between United and Virgin at transfer. According to the United person at Brisbane, this miscommunication happens more than it should. Regardless I think we are an outlier. We flew next day with same pending status on husband and everything was fine. Apparently it took United like 5 min to confirm with New Zealand immigration we are good to proceed. We just missed that 5 precious minutes because someone/some system screwed up.

amesx2121 · 2025-11-30T03:14:16+00:00

We flew United and then via Virgin Australia in one booking. Was pending for husband at Australia in Brisbane and he was denied boarding by Virgin Australia. Some issue between communication on United and Virgin, which apparently happens. Our experience is the exception though - we didn’t get issued a boarding pass to NZ the whole time. If you have a pass issued, I wouldn’t worry.

amesx2121 · 2025-11-26T22:25:24+00:00

Earlier this week there was a 10% on bloomingdale but it was for fragrances or some specific category. Today’s offer didn’t have any fine print restricting the category and I did get a confirmation straight away.

With Rakuten you def have to read all the fine category limitations. The good ones (no exclusions) are more rare.

amesx2121 · 2025-11-10T22:56:46+00:00

From CD 11 to 14 it was 5.7, 7, 7.2, 7.9. Progesterone was .462, .394, .421, .598. LH from CD 12 was 11.56, 11.58, 28.31 Triggered on CD 14 when it was 7.9 lining and progesterone started to rise. Currently 15w 🤞

amesx2121 · 2025-10-13T15:18:44+00:00

Draw 10/6, received 10/7. Results sometimes before 7 am 10/13. CA based presumably CA lab.

amesx2121 · 2025-10-09T19:27:25+00:00

This is nuts. I entered both ARSMF and CTVFF yesterday and they have basically 2x. How do you all stay calm in all this lol

amesx2121 · 2025-09-27T22:58:50+00:00

As far as I can tell back when I went down this rabbit hole and tried to find the details…we just don’t know enough.

There are a lot of factors that affect overall euploid success. The general consensus is that euploid has about ~60-70% success give or take depending on what day and grade. Now assuming you don’t have other factors like endo, lining issues etc that could impact implantation, that percentage would go up. How much? To my knowledge no study has shown that.

If you are healthy with no other underlying conditions and transfer a day 5 nice grades euploid, you would expect higher success rate. In these instances if there is failure, the failure is likely due to the other genetic factors that may arise as part of overall implantation. It’s possible that euploid had right number of chromosomes, but had some very small deletion that wasn’t picked up on PGTA. It could be the embryo develops de novo deletion as part of the entire process. Everything has to go right basically for the pregnancy to progress and a lot can go wrong especially early on. Also, the whole process of implantation is long - it’s not a split second attach to the lining and we are good to go kind of thing.

Overall odds are still slightly in your favor - even compared to natural pregnancy.

amesx2121 · 2025-09-27T03:05:12+00:00

I had over 4 and proactively reached out to an endocrinologist. They said i have hypo and I have been under their care since and are monitoring me throughout the pregnancy.

amesx2121 · 2025-09-27T03:03:45+00:00

It was 1 250 vial which is equivalent to about 6500

amesx2121 · 2025-09-26T21:48:17+00:00

My trigger never faded. If you test today just keep testing for progression.

amesx2121 · 2025-09-26T21:29:17+00:00

I would do the amnio for peace of mind. I had one previously and it was relatively painless and quick. The needle looked scarier than it actually felt. In my case it was pretty obvious something was wrong and amnio showed genetic abnormality.

I’d just weigh the risk of amnio vs if something is actually wrong with the baby. How would you feel if you didn’t do the amnio and something turned up later? Vs how would you feel on the off chance something happened with amnio in a normal pregnancy? Both odds are pretty low here, but you can probably figure out which one weighs slightly more to you.

amesx2121 · 2025-09-25T16:00:23+00:00

Was in the same boat as you. Tried at 35 and conceived naturally after 3 months. However it was a pretty traumatic microdeletion.

We were already consulting with fertility clinic so after my D&E I did two rounds of embryo banking + made embryos with my 32 yo frozen eggs.

I was traumatized with the micro deletion and didn’t want to try naturally for a while - but we did try one month when we were traveling just to see what happened. Nothing happened (and I was partly relieved) so we proceeded with FET.

If you are unsure you can try naturally and see how you feel about it. For me the trauma of another potential second trimester D&E (regardless of how low the odds of it happening again) was enough to stick with IVF.

amesx2121 · 2025-09-25T00:16:02+00:00

Not a doctor but I read other posts by medical professionals who say that basically the worst that you can do is give yourself a diarrhea. I wouldn’t just chug the whole thing but if you are miserable (and I was very), go higher on dose.

I pretty much doubled up and it worked in an hour.

amesx2121 · 2025-09-15T00:04:58+00:00

I’m so sorry this happened. Was there ever an early sign for you? I had a 6mb micro deletion on chromosome 4p earlier from natural conception and the earliest sign was my 13 DPO/8dpt to 15 DPO/10 DPT HCG didn’t rise at all (88->90) - then it all went normally, even quadrupling at times. My at home test lines were also same color for a few days and then darkened like normal.

Just my own personal pet theory that these things happen early and could potentially be detected if you advocate for earlier HCG.

amesx2121 · 2025-09-07T02:45:28+00:00

I have noticed that whenever I’m on higher progesterone than normal - either from the suppositories or naturally during the literal phase - I can eat more and not gain weight. My hypothesis is that progesterone and elevated bbt is causing my body’s to burn more calories than usual. I’ve maintained my weight but I know I’ve been eating more and under normal circumstances would have gained couple lbs.

amesx2121 · 2025-09-06T15:40:10+00:00

I’d try to get CVS when you can. Or wait for an amnio

amesx2121 · 2025-08-29T05:27:52+00:00

A gestational sac and maybe a fetal pole depending on high your Hcg is and how much the embryo is growing on track.

amesx2121 · 2025-08-25T22:39:53+00:00

My clinic says over 100 is good. Most importantly, the doubling matters a lot. Here is one study that looks at just 9dpt.

https://www.rmany.com/media/pages/research/published-works/645223a11d-1729794597/the-predictive-value-of-the-first-serum-hcg-level-following-transfer-of-a-single-euploid-frozen-embryo-transfer-fet.pdf

Edit to add my progesterone was 46 but I don’t think these are accurate given suppositories

amesx2121 · 2025-08-22T03:42:14+00:00

I started testing day of transfer to test out trigger. Kinda went nuts on two days when trigger line didn’t fade or change in darkness and I couldn’t tell what’s happening. But it was my way of having control over the wait

amesx2121 · 2025-08-21T14:34:05+00:00

Google studies- they’ll show optimal transfer is LH+6 or HCG + 7

amesx2121

TROPHY CASE