Amniotic fluid for screening of lysosomal storage diseases presenting in utero (mainly as non-immune hydrops fetalis)

Seventy amniotic fluids (AF) were sampled because of abnormal ultrasound findings (mainly non-immune hydrops fetalis (54 cases) or of the presence of vacuolated lymphocytes in fetal blood (3 cases)). They were analysed by a procedure involving AF supernatant analysis (glycosaminoglycans, oligosaccha...

Full description

Saved in:
Bibliographic Details
Published in:Clinica chimica acta 1996-04, Vol.248 (2), p.143-155
Main Authors: Piraud, Monique, Froissart, Roseline, Mandon, Ginette, Bernard, Annie, Maire, Irène
Format: Article
Language:English
Subjects:
Amniotic fluid
Amniotic Fluid - chemistry
Biological and medical sciences
Cells, Cultured
Diseases of mother, fetus and pregnancy
Female
Glucuronidase - deficiency
Glycosaminoglycans - analysis
Gynecology. Andrology. Obstetrics
Humans
Hydrops Fetalis - diagnostic imaging
Lysosomal Storage Diseases - diagnosis
Lysosomal storage disorder
Medical sciences
N-Acetylneuraminic Acid - analysis
Non-immune hydrops fetalis
Oligosaccharides - analysis
Pregnancy
Pregnancy. Fetus. Placenta
Prenatal Diagnosis
Screening
Ultrasonography, Prenatal
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Seventy amniotic fluids (AF) were sampled because of abnormal ultrasound findings (mainly non-immune hydrops fetalis (54 cases) or of the presence of vacuolated lymphocytes in fetal blood (3 cases)). They were analysed by a procedure involving AF supernatant analysis (glycosaminoglycans, oligosaccharides, free sialic acid and acid hydrolase activities) and biochemical study of cultured AF cells. Ten cases of lysosomal storage diseases (LSD) were diagnosed. The reported procedure allows an orientating screening within 3 days by analysis of 15 ml of third trimester AF supernatant (except for Gaucher and Niemann-Pick diseases). In some cases, the results allow an LSD diagnosis and a medical abortion without waiting for the formal diagnosis (in cultured AF cells that needs 3 more weeks), considering the poor prognosis of these LSD presenting in utero. Furthermore, the formal assessment of the diagnosis in the cultured fetal cells allows accurate genetic counselling for the couple.
ISSN:0009-8981
1873-3492
DOI:10.1016/0009-8981(95)06250-5