Are short limb measurements on a fetal ultrasound report indicative of dwarfism?
Further inputs needed. Please upload the report.
Thanks for asking on HealthcareMagic.
I have gone carefully through your query and understand your concerns. I would insist you to upload the report. It will help me to correlate. As such, such findings could point to the probability of dwarfism or achondroplasia. However, the doctor says that dwarfism is unlikely. I would therefore need more details to correlate. Furthermore, the zero percentile does not make sense to me.
I would await your response. Based on that I will guide you further.
Let me know if I could help further.
Genetic problems likely
Thanks for uploading the report. It was essential for correlation. I have carefully gone through it. The short limbs point to the possibility of certain genetic syndromes like thrombocytopenia absent radius (TAR) or Holt Oram syndrome. Aneuploidy is not the only genetic risk one may have but the risk of aneuploidy was detected to be low during the first trimester screening (FTS).
You need to talk to the geneticist at the center where the ultrasound was done. Furthermore, a fetal echocardiography is also essential.
Discuss with the geneticist concerned
Unfortunately, it is definite that the limbs are short and that the proportion will not normalize as the child grows. It is just that we do not yet know the genetic significance and the associations involved.
Once again I would insist you to discuss with the geneticist concerned.
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