Thanatophoric Dysplasia
I’m 21 weeks pregnant and my anomaly scan showed several severe abnormalities. The specialist suspects type 2 thanatophoric dysplasia.
Findings included:
– cloverleaf skull
– very small chest
– very short long bones
– normal spine and heart
I had an amniocentesis today and they’ve sent off a skeletal dysplasia panel and exome sequencing. I’m now waiting for results.
I’m trying to understand what to expect — emotionally, medically, and practically — and would really appreciate hearing from anyone who has been through something similar, whether you continued the pregnancy or chose TFMR.
Just to add the specialist has also mentioned All organs function well and developed. No bowing or fractures . Good mineralisation but the long and short bones are significantly small for this gestation. We are mentally low after hearing the doctor say baby will not survive as the chest is too small for the lungs to develop or function. And even if they baby did survive which it won’t the baby would be severely handicapped. Also the nipt tests all came back as low chance but they suggest it is lethal form of dysplasia even if the amniocentesis come back normal for thanatophoric dysplasia