Achondroplasia

[Faerie]

Hi everyone.

Just to give a little background - at my nuchal scan they told me that my hormone results were abnormally low, and that this can be an indication of problems with the baby.

I've since had one indepth scan, and they couldn't see anything wrong, baby's right size etc but said they wouldn't be able to confirm until the next scan at around 20 weeks.

My sister had a baby boy who had a severe form of Achondroplasia and died in the womb over 8 years. She didn't find out until much later on in the pregnancy, and has no clue whether her hCG levels were low, I think she's blocked most of it out anyway. We're getting her medical reports on Monday as my hospital were asking for a full report.

I was just wondering if anyone has had a baby diagnosed with this and what was picked up and when.

Even though they haven't seen anything they were offering me an aminocentesis, which I refused because unless they give me a good reason for having one it seems stupid to risk the pregnancy.

 

[b23]

I can't speak from experience, but if your baby has achondroplasia, I thought this was a condition that could be diagnosed before birth? According to wikipedia, "The diagnosis can be made by fetal ultrasound by progressive discordance between the femur length and biparietal diameter by age" so if the sonographer said that baby looks to be a good size, that sounds promising. Maybe they want to wait until 20 weeks so that they can get a better idea of the proportions of your little one's limbs before they get concerned? I hope all is well for you and your baby x

 

[Faerie]

Hi, thanks for answering. Yes, they can pick it up via ultrasound but often not until 20+ weeks. They offer an aminocentesis now because you can see it with that, also shows whether it's a form which will mean the baby will definitely not decide, which I guess then gives the option to terminate the pregnancy