Fetal ascites and oligohydramnios: prenatal diagnosis of a sialic acid storage disease (index case)

Prenat Diagn. 1995 Sep;15(9):864-7. doi: 10.1002/pd.1970150913.

Abstract

In a 20-year-old primiparous patient, a routine ultrasound scan performed at 28 weeks revealed fetal ascites, bilateral talipes, and oligohydramnios. This woman, married to possibly her first cousin, was at risk for an autosomal recessive disease, a metabolic disorder. At 29 weeks, an amniotic fluid biochemical study revealed the presence of an abnormal band of free sialic acid, leading to a diagnosis of a congenital form of sialic acid storage disease. Termination of pregnancy was performed at 30 weeks. Measurement of free sialic acid in cultured fetal skin fibroblasts confirmed the diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amniocentesis
  • Ascites / diagnosis*
  • Ascites / diagnostic imaging
  • Ascites / etiology
  • Cells, Cultured
  • Consanguinity
  • Facies
  • Female
  • Fetal Diseases / diagnosis*
  • Fetal Diseases / diagnostic imaging
  • Fibroblasts / metabolism
  • Humans
  • Liver / ultrastructure
  • Lysosomal Storage Diseases / diagnosis*
  • Lysosomal Storage Diseases / diagnostic imaging
  • N-Acetylneuraminic Acid
  • Oligohydramnios / diagnosis*
  • Oligohydramnios / diagnostic imaging
  • Oligohydramnios / etiology
  • Pregnancy
  • Sialic Acids / metabolism*
  • Ultrasonography, Prenatal

Substances

  • Sialic Acids
  • N-Acetylneuraminic Acid