Short Femur and Humerus bones at 20 weeks

[Exangel]

I am 34 years old, pregnant with my 3rd child. I went in for my 20 week ultrasound and was given that paired with the result of my quad screen where the risk for Down syndrome was 1:2200 and the fact that my baby is also measuring with both a small femur and a small humerus bone that my risk is now significantly higher. Has this happened to anyone else? Is there reassurance that you can provide? Every website I go to basically has a ton of numbers and I get confused, so plain english would be nice. Having a child with Down syndrome is not the end of the world and I know this, I am just trying to assess my risks and find appropriate care for my child in a very very rural community without the use of invasive testing.  Thank you for your answers.

[Beatlejo]

Thanks so much for responding.  I find myself obsessed with these forums searching for some ray of hope that my baby, too, will be just fine.  I read about so many whose baby's femurs are just one to two weeks behind and not so many who are more than five weeks like mine.  I'm single and did in vitro with a donated frozen embryo. I just want to be a mom so bad.  Never expected this as a possible outcome.  I'm so scared about raising a baby with dwarfism on my own.  I am going to talk to the doc Tuesday about an amino just for peace of mind and to prepare for whatever outcome might be.  I will keep you updated as I go thru the rest of my pregnancy. Thanks so much for your support.  And Nathan is adorable!  So happy for you!

[Exangel]

I also just updated my profile picture to show y'all Nathan and how my short femur baby grew up.

[Exangel]

I am the one who started this thread many years ago.  I still get updates on it and I too wished more people would post on how their babies were doing.

When I delivered Nathan at 40 weeks his femurs were 6 weeks behind and his humerus was 7-8 weeks behind according to ultrasounds.  As you might have read above, he was perfectly healthy.

Nathan is 5 years old now.  Still healthy, and definitely the smartest of my brood of 5 kids, but, he is short.  He is only in the 10th percentile for his age for his height.  He has a 3 1/2 year old brother who is exactly the same height as him.

I know I had a best case scenario out of this.  I spent 20 weeks being cared, looking at every outcome, preparing for the worst and what I got was a perfectly awesome, albeit short little boy. He's probably not going to be in the NBA ever, but I'm ok with this.

Good luck to all of you and please post updates, they are so helpful to those looking for answers

[Beatlejo]

I wish more people would post outcomes on how their baby's are doing please.  My baby's femur and humerus lengths have been falling further and further behind since 16 weeks.  I am 29 weeks now and they are now 5-6 wks behind.  No other indicators but specialist says she will have dwarfism. Materni 21 test was neg.  thinking seriously about an amino.  Please people come back and tell us how your babies are doing. Most everyone who has posted has delivered their babies by now.

[Mickey177]

At my 20 week ultrasound, the doctors saw what looked liked a fractured femur.  I've had 2 follow-up ultrasounds since then, and they believe the baby has osteogenesis perfecta.  All the other bones and measurements look good.  I was offered the option to terminate, but I felt based on the limited information that the docs were giving me, I couldn't go through with it.  Anyone else have an experience like this?  And for those who have had their babies, how are the babies doing?

[LWDmom]

Today we went to see our specialist who said our baby boys femurs were still short & looked bowed as well as him having shorter humerus. He basically said we are looking at our son to have dwarfism. He also mentioned possibility of osteogenesis imperfecta. It had been such an overwhelming day. I have looked at so many blogs about different measurements etc....so just wondering if anyone has any information or similar recent stories. I am not accepting this diagnosis & praying that God is going to baffle these doctors & prove them to be wrong & deliver a healthy normal baby boy.