Children with Down syndrome who develop transient myeloproliferative disorder or acute megakaryoblastic leukemia harbor somatic mutations in theGATA1 gene, a phenomenon specific to this syndrome. Heald and colleagues report the first case of a stillborn fetus with Down syndrome-associated acute megakaryoblastic leukemia/transient myeloproliferative disorder and a GATA1mutation. The authors discuss the management of fetuses with suspected or confirmed diagnosis of Down syndrome and highlight the need for genetic screening and counseling based on maternal age.
- Brandie Heald
- Joanne M Hilden
- Charis Eng
