HUM-MOLGEN DIAGnostics/Clinical Research


Down Syndrome Management Query

I have been reviewing the recent literature available

to pediatricians regarding the primary care managment of patients with Trisomy 21. I have been unable to find a recommendation for screening blood counts. The practice of general pediatrics does not include complete blood counts for 'normal' patients at any point, though hematocrits are checked on a schedule by some. The overall risk of malignant myelodysplasias in Tri 21

is quoted generally at ~1%, which is low, but significantly increased over the general childhood population.

My question is: is the risk of leukemia or leukemoid reaction in Trisomy 21 high enough that patients should have a screening CBC on some scheduled basis (once every few months to some age then once annually?)? If not, are the indications for diagnostic CBC in any way different from those in non-Down children who are suspected to have leukemia?

Thanks for your help!

Angela Scheuerle M.D.
"Without courage you cannot practice any other virtue consistently" -Maya Angelou