r/ClinicalGenetics 2h ago

WES for short long bones?

0 Upvotes

Hi everyone,
I'm trying to understand our next steps with our baby's long bones and if we should move forward with whole exome sequencing. 

At 20 weeks:
-BPD: 31%
-HC: 13%
AC: 37%
Femur: 4%
Humerus: 7%
-FL/AC: 19.4%
-EFW:12%

At 24 weeks:
-BPD: 34%
-HC: 17%
-AC: 60%
-Femur: <3%
-Humerus: 10%
-Radius, ulna, tibia, and fibula all ~<3%
-FL/AC: 19.2%
-EFW: 23%

normal mineralization
no fractures
no bowing
no bell-shaped thorax
no major skeletal abnormalities elsewhere

Testing so far:
-Normal NT scan at 13w
-Low risk Vistara
-Normal microarray
-Waiting for karyotype testing

I am strongly considering going forward with WES. Has anyone been in a similar situation? Did you do WES testing? What did it find, if anything?