u/ashramswithinanut

We tfmr’d our baby girl for HLHS on July 31. It was an isolated structural heart defect. There was also a suspected Blake’s pouch cyst and hypoplastic nasal bone, but given the clean NIPT (and then normal microarray) these were disregarded. So technically there was only one thing wrong.

Given the normal microarray, our genetic counsellor offered us the option of joining a Whole Genome Sequencing research study or stopping further testing with a recurrence risk of 4%. From my understanding, there’s only around a 10% chance of the WGS actually finding a cause for the HLHS, and greater chances of it uncovering variants of uncertain significance or worse, a random genetic issue that was completely missed. To me that just sounds like even more anxiety on top of the anxiety I will already have in my next pregnancy.

Also from what I understand, even if we do find a genetic cause for the heart defect, it’s not as though future pregnancies with the same genetic issue will present with the same severe heart defect; it could turn out to be a completely heart healthy baby regardless. We would only find an issue in the anatomy scan regardless. So I’m really unsure if there’s a point to further testing.

Did any of you guys choose to test further after a normal microarray? If yes, did you find something? If no, did you go on to have heart healthy children? I’m just trying to make sure I’m not making the wrong decision and holding out for some hope here.

(TW: I do have a heart-healthy 2.5 year old).

Hi everyone,

I had my D&E at 20+3 on July 31, so about 2 weeks out. My doctors didn’t set up a follow-up appointment nor did they recommend waiting to TTC again (though they did say waiting for the first period after makes it easier to date the next pregnancy). Is that common? Especially the no follow up?

I’m planning to wait for the first period anyway, but is there anything I should try and keep in mind/do before TTC? Should I try to get an appt with a GYN anyway? I’m at a big university hospital system so I don’t have a dedicated OBGYN.

I TFMR’d for an isolated heart defect and our microarray was normal.

TW: LC

Hi everyone,

I’m so sorry that we’re all here. My husband and I had to tfmr last Friday via D&E. Our anatomy scan showed a hypoplastic left heart syndrome and possible Blake’s pouch cyst and hypoplastic nasal bone. Our genetic counsellor wasn’t concerned about the last two because of our negative NIPT test, but also seemed to have very few theories or hypotheses about what happened and why. We’re doing a microarray but from what I understand that only gives us a 6% chance of actually finding anything wrong? I feel like none of this makes sense to me… I just want to figure out why this happened and it seems like the chances of me finding out are low.

Has anyone else here been through something similar and found anything? We have a healthy 2.5 year old.