Prenatally Diagnosed Infant AML

Area of Science:

• Perinatology
• Pediatric Hematology
• Medical Genetics

Background:

• Prenatal diagnosis of fetal hematologic malignancies is rare.
• Acute myeloid leukemia (AML) is a significant concern in pediatric oncology.

Observation:

• A fetus was diagnosed with acute myeloid leukemia, monocytic type, in utero via cordocentesis.
• The diagnosis was made during an investigation for fetal hepatomegaly.

Findings:

• Cytogenetic analysis revealed mixed lineage leukemia (MLL) duplication without gene disruption or trisomy.
• The fetus had AML without concurrent Down syndrome.

Implications:

• This case highlights the possibility of in utero diagnosis of fetal AML.
• There is a critical need for established management guidelines for fetal hematologic malignancies.