Possible TFMR- skeletal dysplasia
Good evening- I guess I’ll start by saying I never thought I’d be joining this subreddit, as I’m sure all of you once felt before. I’m a 29 y.o female, mom of 1 (healthy pregnancy) who suffered a MMC July 2024 at 10 weeks resulting in dnc. This time around, I’m now 20w1d pregnant with what was supposed to be our rainbow baby- and received unexpected and heartbreaking news my anatomy scan that he more than likely has skeletal dysplasia. I’m at a total loss- I’m angry, confused, crippling and just an overall wreck. They did vistara testing on me today and want to do an amnio on Thursday but I’m so hesitant and scared about it. Is it just delaying the inevitable? Is it worth it knowing exactly what it is- knowing it most likely won’t change the outcome? I know not all scans are 100%, but from the report in my chart- it’s not looking promising at all. Obviously not looking for “medical advice” but I need support and I don’t know where else to go. If you’ve made it this far, thank you. I’m so sorry for all who have had to experience this. I’m in shambles as I feel each movement from my very much alive child inside of me. 💔
Findings today:
Short and Bowed long bones (Rhizomelia and Mesomelia)
Very curved Femurs
Hands and feet appear to be normal
FL/AC ratio is 0.11 (<0.16 suggests lethality))
FL/ Foot ratio:0.70 (<1 suggests skeletal dysplasia)
ThC: AC ratio: 0.55 (< than 1 suggests lethal)
Bell shaped chest
Thoracic circumference less than 5th percentile
Abnormal cranium (cloverleaf)
Cardiac thoracic ratio 0.63
Abnormal cardiac axis (77.98 )
Abnormal curvature of the spine