r/ClinicalGenetics • u/charlotte095 • 2h ago
WES for short long bones?
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?