we just got back from our 20 week sonogram and the Dr. said they found a short femur along with a cyst on the brain. The Dr. told us not to worry, however the more I search on the internet the more it seems that these 2 combined are a fairly accurate indicator of a chromosomal problem.
Should I be worried?
If the maternal age is advanced following are taken to be pointers towards chromosomal abnormality like Down's which is trisomy 21-- Sonographic markers include thickness of the nuchal fold, cardiac abnormalities, duodenal atresia, shortened femur, shortened humerus, renal pyelectasis, absence of the nasal bone , a hyperechogenic bowel, and a choroid plexus cyst. None of these markers are specific, and false-positive rates have been reported. Radiologist alone would not be able to make the decision, a multidisciplinary approach with involvement of a medical geneticist or a genetic counselor is required. Fetal echocardiography should also be performed.
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