Transient abnormal myelopoiesis requiring advanced neonatal intensive care treatment

Acta Paediatr. 2024 May;113(5):980-988. doi: 10.1111/apa.17142. Epub 2024 Feb 8.


Aim: Five to thirty percent of neonates with trisomy 21 develop transient abnormal myelopoiesis (TAM) with a high mortality rate. The aim of the study was to identify contributing factors that determine mortality and need for chemotherapy in this patient group.

Methods: Six-year, single-centre, retrospective study of neonatal TAM cases requiring admission to intensive care. Data were collected from electronic patient records, laboratory and genetic results. The odds ratio was calculated to assess the likelihood of neonates with certain clinical characteristics having short-term mortality and needing chemotherapy.

Results: Twenty-one neonates were studied with a mortality rate of 28%. Neonates requiring inotropic support (OR 19, 95% CI: 0.9-399, p = 0.05) and inhaled nitric oxide (iNO) (OR 13, 95% CI: 1.4-124.3, p = 0.03) were less likely to survive to discharge. Neonates needing mechanical ventilation (OR 14, 95% CI: 1.1-185.5, p = 0.04), or a white cell count >50 × 109/L (OR 27, 95% CI: 1.2-605.7, p = 0.04) were more likely to receive chemotherapy.

Conclusion: A high mortality rate was identified in TAM neonates with symptomatic pulmonary hypertension (PH) needing active treatment strategies, such as inotropes and iNO. The presence of PH should be considered in the clinical management, prognosis and parental counselling.

Keywords: Down syndrome; GATA‐1 mutations; blasts; neonate; transient abnormal myelopoiesis; trisomy 21.

MeSH terms

  • Administration, Inhalation
  • Down Syndrome*
  • Humans
  • Hypertension, Pulmonary*
  • Infant, Newborn
  • Intensive Care, Neonatal
  • Leukemoid Reaction*
  • Nitric Oxide
  • Retrospective Studies


  • Nitric Oxide

Supplementary concepts

  • Myeloproliferative Syndrome, Transient