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.
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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)
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Chemical References |
- Sialic Acids
- N-Acetylneuraminic Acid
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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
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