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This is the first reported case of a fetus diagnosed with acute myeloid leukemia in utero. The infant was diagnosed with monocytic acute myeloid leukemia but sadly passed away shortly after emergency delivery.

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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.