Recurrent nonimmune hydrops fetalis: a rare presentation of sialic acid storage disease

Genet Couns. 1999;10(3):277-84.


A case of recurrent hydrops fetalis, diagnosed on second trimester's ultrasonography, has led to the diagnosis of sialic acid storage disease. No classic etiology was found after the first accident. The recurrence in subsequent pregnancy raised the possibility of a storage disease that was confirmed by amniocentesis. The diagnosis of Salla's disease was based on high levels of free sialic acid in amniotic fluid and fetal cells culture and by specific histologic features on fetopathologic examination. Diagnosis of inherited diseases is important because it implies a high risk of recurrence which makes mandatory genetic counseling and prenatal care in subsequent pregnancies.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Diagnosis, Differential
  • Female
  • Fetal Diseases / etiology*
  • Fetal Diseases / genetics
  • Fetal Diseases / metabolism
  • Fetal Diseases / pathology
  • Humans
  • Hydrops Fetalis / etiology*
  • Hydrops Fetalis / genetics
  • Hydrops Fetalis / metabolism
  • Hydrops Fetalis / pathology
  • Metabolism, Inborn Errors / complications*
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / genetics
  • Metabolism, Inborn Errors / metabolism
  • Metabolism, Inborn Errors / pathology
  • N-Acetylneuraminic Acid / metabolism*
  • Pregnancy
  • Pregnancy Outcome
  • Prenatal Diagnosis
  • Recurrence


  • N-Acetylneuraminic Acid