First trimester screening for trisomy 21; Do the parameters used detect more pathologies than just Down syndrome?
Since PAPP-A is a protease that specifically degrades insulin-like growth factor binding proteins we would conclude that the control of the insulin-like growth factor system in the first trimester of pregnancy might play a key role in determining subsequent pregnancy outcome.
This is the first report of a large pedigree with the clinical phenotype of HCH plus AN due to a FGFR3 mutation, p.Lys650Thr. This finding demonstrates the coexistence of both conditions due to the same mutation and it might represent a true complex, which should be further established by searching for AN in mild HCH patients or for HCH in patients with AN.