Prenatal diagnosis of a transient myeloproliferative disorder in trisomy 21

A. A. Baschat, T. Wagner, R. Malisius, U. Gembruch

Research output: Contribution to journalArticlepeer-review

26 Scopus citations


We report the prenatal diagnosis of a transient myeloproliferative disorder suggestive of leukaemia in a fetus with hepatosplenomegaly, hydrops and 47,XY,+21 karyotype. The initial fetal white blood cell count at 26 + 5 weeks' gestation was 190/nl with 70 per cent blast cells. Immunophenotyping of the large blasts revealed surface markers suggestive of an early stem cell differentiation arrest resulting in undifferentiated polyclonal myelopoiesis. The fetal heart tracing showed minimal beat-to-beat variability in the presence of high leukocyte counts. Serial fetal blood sampling showed decreasing blast cells in the peripheral blood and normalization of white blood cell counts. Although there was increasing hydrops, this period was marked by improvement of the fetal heart rate pattern. Finally the fetus developed pancytopenia with increasing hydrops, AV-valvular insufficiency and venous Doppler studies indicative of cardiac decompensation prior to intra-uterine death at 31 + 5 weeks' gestation. Post-mortem examination revealed marked liver and splenic necrosis without evidence of residual leukaemic infiltration in any organ. Fetal hydrops and hepatosplenomegaly may indicate an underlying haematopoietic disorder warranting further investigation. Furthermore, this case indicates that transient abnormal myelopoesis may result in a fulminant clinical picture much like true leukaemia. This may be due to increased vulnerability of the fetus or represent a disease mechanism unique to fetuses with chromosomal abnormalities.

Original languageEnglish (US)
Pages (from-to)731-736
Number of pages6
JournalPrenatal Diagnosis
Issue number7
StatePublished - Jul 1998
Externally publishedYes


  • Down syndrome
  • Fetus
  • Hepatosplenomegaly
  • Leukaemia
  • Myeloproliferative disorder
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)


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