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

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.

• Authors: P Poulain, S Odent, I Maire, J Milon, J F Proudhon, H Jouan, B Le Marec
• Journal: Prenatal diagnosis (Prenat Diagn) Vol. 15 Issue 9 Pg. 864-7 (Sep 1995) ISSN: 0197-3851 [Print] England
• PMID: 8559759 (Publication Type: Case Reports, Journal Article)

Chemical References

• Sialic Acids
• N-Acetylneuraminic Acid

Topics

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