Prenatal diagnosis of neonatal hemochromatosis: it is possible?

  • Helena Isabel Lopes Obstetrics / Gynecology Department of Centro Materno Infantil do Norte, Centr Hospitalar do Porto
  • Ana Luísa Montes Prenatal Diagnosis Unit of Obstetrics Service , Centro Hospitalar Vila Nova de Gaia/Espinho
  • Mariana Veiga Novais Prenatal Diagnosis Unit of Obstetrics Service , Centro Hospitalar Vila Nova de Gaia/Espinho
  • Otília Brandão Pathology Development Unit of Anatomy Pathological Service, Centro Hospitalar São João
  • Francisco Valente Prenatal Diagnosis Unit of Obstetrics Service , Centro Hospitalar Vila Nova de Gaia/Espinho
Keywords: fetal ultrasonography, prenatal diagnosis, neonatal hemochromatosis


Introduction: Neonatal Hemochromatosis is a rare liver disease of intrauterine onset, defined by neonatal liver failure associated with extrahepatic siderosis. Gestational alloimmune liver disease has been established as the cause of fetal liver injury. At present, there is no effective approach to prenatal diagnosis.

Case Report: A 23-year-old pregnant woman presented at 32 weeks of gestation with oligohydramnios and hyperechogenic liver focus on ultrasound. The premature newborn developed multisystem organ failure and died at the second day of life despite aggressive support care. The autopsy allowed the diagnosis of Neonatal Hemochromatosis.

Conclusion: The ultrasound identification of hyperechogenic nodular focus on fetal liver may be suggestive of Neonatal Hemochromatosis. Further investigations are needed to identify the specific alloimmune complex in maternal blood. Establishment of the diagnosis in an affected fetus or newborn may have a major impact for the prognosis of disease and for the outcome of future pregnancies.


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How to Cite
Lopes, H. I., Montes, A. L., Novais, M. V., Brandão, O., & Valente, F. (2015). Prenatal diagnosis of neonatal hemochromatosis: it is possible?. NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL, 24(2), 88-90.
Case Reports