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

Clinica Chimica Acta

Volumn 248, Issue 2, 1996, Pages 143-155

  Piraud, Monique ^a   Froissart, Roseline ^a   Mandon, Ginette ^a   Bernard, Annie ^a   Maire, Irène ^a  

^a HÔPITAL DEBROUSSE   (France)

Author keywords

amniotic fluid; fetalis; lysosomal storage disorder; non immune hydrops; screening

Indexed keywords

BETA GALACTOSIDASE; BETA GLUCOSIDASE; GLYCOSAMINOGLYCAN; N ACETYLNEURAMINIC ACID; OLIGOSACCHARIDE; PHOSPHODIESTERASE; SIALIDASE;

AMNION FLUID; ARTICLE; CONTROLLED STUDY; CYTOCHEMISTRY; FETUS; GEL ELECTROPHORESIS; HUMAN; HUMAN TISSUE; LYSOSOME STORAGE DISEASE; PRIORITY JOURNAL; THIN LAYER CHROMATOGRAPHY;

EID: 0029915457     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/0009-8981(95)06250-5     Document Type: Article

References (29)

1. Machin GA. Hydrops revisited: literature review of 1414 cases published in the 1980s. Am J Med Genet 1989;34:366-390.
2. Van Maldergem L, Jauniaux E, Fourneau C, Gillerot Y. Genetic causes of hydrops fetalis. Pediatrics 1992;89:81-86.
3. Fensom AH, Bensom PF. Recent advances in the prenatal diagnosis of the mucopolysaccharidoses. Prenat Diagn 1994;14:1-12.
4. Abramovich DR. Fetal factors influencing the volume and composition of liquor amnii. J Obstet Gynaecol 1970;77:865-877.
5. Philip N. Bases embryologiques et physiologiques. In: Mattei JF, Dumez Y. eds. Le Diagnostic Prénatal. Progrès en Pédiatrie 1. Paris: Doin, 1986;13-20.
6. Guibaud P, Cottin X, Maire I, et al. Ascite foetale révélatrice d'une sialidose infantile. Intérêt de l'étude des oligosaccharides du liquide amniotique. J Genet Hum 1985;3-4:317-324.
7. Piraud M, Boyer S, Mathieu M, Maire I. Diagnosis of mucopolysaccharidoses in a clinically selected population by urinary glycosaminoglycan analysis: a study of 2000 urine samples. Clin Chim Acta 1993;221:171-181.
8. Humbel R, Collart M. Oligosaccharides in urine of patients with glycoprotein storage diseases. Rapid detection by thin-layer-chromatography. Clin Chim Acta 1975;60: 143-145.
9. Warren L. The thiobarbituric acid assay of sialic acids. J Biol Chem 1959;234: 1971-1975.
10. Roboz J, Suttajit M, Bekesi JG. Elimination of 2-deoxyribose interference in the thiobarbituric acid determination of N-acetylneuraminic acid in tumor cells by pH dependent extraction with cyclohexanone. Anal Biochem 1981;110:380-388.
11. Saifer A, Perle G. Automated determination of serum hexosaminidase A by pH inactivation for detection of Tay-Sachs Disease heterozygotes. Clin Chem 1974;20:538-543.
12. Inui K, Yutaka T, Okada S, Yabuuchi H, Wenger DA, Desnick RJ. Hexosaminidase A activity in skin fibroblasts from various types of GM2 gangliosidosis using a fluorogenic sulphated substrate. J Inherit Metab Dis 1985;8:149-150.
13. Gehler J, Cantz M, Tolksdorf L, Spranger J, Gilbert E, Drube H. Mucopolysaccharidosis VII: β-glucuronidase deficiency. Humangenetik, 1974;23:149-158.
14. Wood S. A sensitive fluorimetric assay for alpha-L-fucosidase. Clin Chim Acta 1975;58:251-256.
15. Peters SP, Coyle P, Glew RH. Differentiation of β-glucocerebrosidase from β-glucosidase in human tissues using sodium taurocholate. Arch Biochem Biophys 1976;175: 569-582.
16. Besley GTN, Moss SE. Studies on pyrophosphate diesterase activity in cultured human fibroblasts: a deficiency in Niemann-Pick disease. Clin Chim Acta 1981;117:75-84.
17. Van Hoof F, Hers HG. The abnormalities of lysosomal enzymes in mucopolysaccharidoses. Eur J Biochem, 1968;7:33-44.
18. Potier M, Beauregard G, Belisle L, et al. Neuraminidase activity in the mucolipidoses (type I, II and III and the Cherry Red Spot Myoclonus Syndrome). Clin Chim Acta 1979;99:97-105.
19. Lowry OH, Rosebrough NJ, Farr AL, Randall RJ. Protein measurement with the Folin phenol reagent. J Biol Chem 1951;193:265-275.
20. Zaidman JL, Waron M, Meyer S, Micle S. Amniotic fluid components and changes due to storage conditions. Eur J Clin Chem Clin Biochem 1992;30:43-45.
21. Lee TY, Schafer IA. Glycosaminoglycan composition of human amniotic fluid. Biochim Biophys Acta 1974;354:264-274.
22. Mitra SK, Blau K. An improved determination of total glycosaminoglycans in body fluids by formation of complexes with quinacrin: changes in amniotic fluid total glycosaminoglycans during normal pregnancies and in pregnancies at risk for mucopolysaccharidoses. Clin Chim Acta 1978;89:127-134.
23. Warner TG, Robertson AD, Mock AK, Johnson WG, O'Brien JS. Prenatal diagnosis of GM1 gangliosidosis by detection of galactosyl-oligosaccharides in amniotic fluid with high performance liquid chromatography. Am J Hum Genet 1983;35:1034-1041.
24. Piraud M, Maire I. Interference of amikacin in thin-layer chromatographic screening of urine for oligosaccharidosis. Clin Chem 1990;36:809.
25. Clements PR, Taylor JA, Hopwood JJ. Biochemical characterization of patients and prenatal diagnosis of sialic acid storage disease for three families. J Inherit Metab Dis 1988;11:30-44.
26. Meizner I, Levy A, Carmi R, Robinson C. Niemann-Pick disease associated with non-immune hydrops foetalis. Am J Obstet Gynecol 1990;163:128-129.
27. Maconochie I, Chong S, Mieli-Vergani G, et al. Fetal ascites: an unusual presentation of Niemann-Pick type C. Arch Dis Child 1989;64:1391-1393.
28. Vanier MT, Rodriguez C, Lafrasse R, et al. Prenatal diagnosis of Niemann-Pick type C Disease: current strategy from an experience of 37 pregnancies at risk. Am J Hum Genet 1992;51:111-122.
29. Platt LD, Devore GR, Horenstein J, et al. Performing cytogenetic studies on ascitic, amniotic and hygroma fluid. J Reprod Med 1990;317:1145-1146.