Prenatal sonographic findings and hematological abnormalities in fetuses with transient abnormal myelopoiesis with Down syndrome

Abstract

To determine relevant prenatal findings of transient abnormal myelopoiesis (TAM) that have important prognostic implications. The prenatal and postnatal medical records of all cases with confirmed TAM associated with Down syndrome were reviewed retrospectively, with emphasis on prenatal sonographic findings, fetal blood analysis, neonatal outcomes, and causes of death. From January 1992 to December 2005, seven cases were confirmed postnatally as having TAM associated with Down syndrome. Sonography demonstrated hydrops with hepatomegaly in four, and isolated hepatomegaly in two of these seven cases. There were no findings suggestive of cardiac failure in cases of hydrops. Fetal blood analysis revealed elevated liver enzyme levels in six cases and hypoalbuminemia in four cases. Comparison of sonographic findings with fetal blood findings demonstrated an association between hydrops and hypoalbuminemia. Four of the seven cases were fatal. All fatal cases were associated with hydrops and the main cause of death was coagulopathy due to liver failure, which may have resulted from infiltration of the liver by blast cells. Fetal TAM is associated with hepatomegaly and elevated liver enzyme levels. The prenatal finding with prognostic implications is hydrops, which may result from hypoalbuminemia due to liver failure.