WES for short long bones?

[u/charlotte095]

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?

[u/life-lately22]

I don’t want to scare you, because I’m sure there are also stories where WES came back fine. Our baby’s unfortunately did not. Our baby had short long bones. Ours were lower percents though. By 20 weeks we were under 1 percent femur length and some other abnormalities were found.

We had normal NIPT and microarray. WES came back with an extremely rare severe genetic disorder.

[u/charlotte095 → u/life-lately22]

I am so sorry to hear of your loss❤️

If you feel comfortable sharing, may I ask what the diagnosis was?

I think pursuing WES makes the most sense for us.

[u/Beasnessminded → u/life-lately22]

Mine was the same, short long bones at 20 weeks, no other abnormalities. WES revealed an extremely rare genetic condition :(

[u/life-lately22 → u/Beasnessminded]

It’s the worst…. Have you had any luck TTC again?

[u/Beasnessminded → u/life-lately22]

Not trying to :(, leaning towards OAD, it absolutely traumatised me.

[u/Impossible_Cash279 → u/Beasnessminded]

Sorry for your condition, we are also having exact same issue happened two times and aborted our baby boyh times at 20 weeks. but our result did not find any results , we even gave wgs , If you dont mind can you tell the condition name or the gene so that i can see i our raw data

[u/stardewgal21]

My son had shortened long bones and abnormal CBCs and greasey stools. Led to diagnosis of SDS via WES. Very rare.

[u/skerbball]

I’m so sorry you are going through this. We just lost our son to a rare skeletal dysplasia in May. He had a FLNB gene mutation. Found out via amniocentesis about the genetic mutation. There are so many different types of skeletal dysplasia’s and they are very hard to diagnose. The biggest thing we were told about lethality is if the chest is growing and can support the lungs. Unfortunately in our case he had a very small chest and recessed small jaw. Hang in there I know how stressful all the unknowns are.

[u/charlotte095 → u/skerbball]

Thank you for sharing your experience, I am so sorry to hear of the loss of your son ❤️

[u/perfect_fifths]

child had normal cma and karyotype, but invitae skeletal dysplasia panel was positive. he also had short femurs in utero. then after birth, facial dysmorphia + high arched palate + webbed neck, then fell off the growth curve rather fast and took forever to outgrow his clothes and was under the 1st percentile for height and is now 1st percentile and still wears clothes intended for smaller kids (going on 12, wearing 7-8 yr old size), wears a 1y in shoes.

[u/charlotte095 → u/perfect_fifths]

Thank you for sharing❤️ do you happen to know what type of SD your son has?

I think moving forward with WES is our best choice at this point.

[u/perfect_fifths → u/charlotte095]

Yes. Trichorhinophalangeal syndrome, I have it too as does my mom and it goes back to my great grandfather. I am short for whatever reason but everyone else in my family affected by it is