Bilateral renal agenesis, cardiac hypertrophy and pancytopenia, a new syndrome?

Abstract

We report a fetus with an unusual combination of features including bilateral renal agenesis, hydrops, cardiac hypertrophy and pancytopenia. There was haematological evidence of apoptosis with nuclear degeneration of megakaryocytes. The combination of structural anomalies associated with pancytopenia has many features reminiscent of Fanconi's anaemia although Mitomycin C studies were normal. There was no evidence of infection as a cause for the pancytopenia. We suggest that fetal blood sampling should be considered in similar cases with renal agenesis. Some may have a milder form of pancytopenia and may not present with hydrops thereby not prompting further haematological investigation.