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What Causes Achondroplasia?
Question: Hello,
I am a 39yr old mother and now pregnant of my second child. I live in the Netherlands where, due to my age, I had the test conducted to calculate my risk on Down syndrom, trisomie 13 and 18. All came back as <1:5000. A very low risk they told me.
Now at 20w1d I had the structural echoscopic examination where they found nothing off the chart except: short femur (27mm,
What to think of this now?
I am a 39yr old mother and now pregnant of my second child. I live in the Netherlands where, due to my age, I had the test conducted to calculate my risk on Down syndrom, trisomie 13 and 18. All came back as <1:5000. A very low risk they told me.
Now at 20w1d I had the structural echoscopic examination where they found nothing off the chart except: short femur (27mm,
What to think of this now?
Brief Answer:
Do not worry
Detailed Answer:
Hi
I understand your concerns but don't worry. It's too early to suggest a diagnosis of skeletal dysplasia or achondroplasia. If you do not have a family history of skeletal dysplasia then I would recommend you to go for a repeat scan after 2-3 weeks and check for this.
Hopefully it will be of help.
Take care
Do not worry
Detailed Answer:
Hi
I understand your concerns but don't worry. It's too early to suggest a diagnosis of skeletal dysplasia or achondroplasia. If you do not have a family history of skeletal dysplasia then I would recommend you to go for a repeat scan after 2-3 weeks and check for this.
Hopefully it will be of help.
Take care
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Brief Answer:
No, I have not
Detailed Answer:
No, I have not seen it in my practice.
No, I have not
Detailed Answer:
No, I have not seen it in my practice.
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
You said: It's too early to suggest a diagnosis of skeletal dysplasia or achondroplasia.
When (around which weeks of pregnacy) would signs of skeletal displasia or achondroplasis be visible by scans?
When (around which weeks of pregnacy) would signs of skeletal displasia or achondroplasis be visible by scans?
Brief Answer:
You can go for molecular test for definitive answer
Detailed Answer:
Hi
Most cases are picked up at around 26 weeks. But there are some case reports suggestive of early diagnosis at 21 weeks as well with ultrasound along with definitive diagnostic tests such as molecular DNA analysis and 3D helical CT to confirm the diagnosis.
DNA analysis of fetal blood demonstrates the presence of the GR380R fibroblast growth factor receptor 3 (FGFR3), which is specifically associated with achondroplasia. This test can help you to check for achondroplasia at this stage.
You can go for molecular test for definitive answer
Detailed Answer:
Hi
Most cases are picked up at around 26 weeks. But there are some case reports suggestive of early diagnosis at 21 weeks as well with ultrasound along with definitive diagnostic tests such as molecular DNA analysis and 3D helical CT to confirm the diagnosis.
DNA analysis of fetal blood demonstrates the presence of the GR380R fibroblast growth factor receptor 3 (FGFR3), which is specifically associated with achondroplasia. This test can help you to check for achondroplasia at this stage.
Note: For detailed guidance on genetic screening consult a genetics specialist
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
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