Abstract | OBJECTIVE: The aim of this study was to quantify glycosaminoglycans (GAGs) in amniotic fluid (AF) from an MPS VII fetus compared with age-matched fetuses obtained from normal pregnancies. METHOD:
Disaccharides were measured by liquid chromatography tandem mass spectrometry, compared to age-matched controls. Enzyme assay was performed in AF supernatant or cultured amniocytes. GUSB was analyzed by next generation sequencing using Ion Torrent Personal Genome Machine with a customized panel. RESULTS: CONCLUSION: This is the first report of specific GAG analysis in AF from an MPS VII fetus, indicating that GAG elevation in AF occurs by 21 weeks of gestation and could be an additional tool for prenatal diagnosis of MPS VII and potentially other MPS types. © 2017 John Wiley & Sons, Ltd.
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Authors | Francyne Kubaski, Ana Carolina Brusius-Facchin, Robert W Mason, Pravin Patel, Maira G Burin, Kristiane Michelin-Tirelli, Rejane Gus Kessler, Fernanda Bender, Sandra Leistner-Segal, Carolina A Moreno, Denise P Cavalcanti, Roberto Giugliani, Shunji Tomatsu |
Journal | Prenatal diagnosis
(Prenat Diagn)
Vol. 37
Issue 5
Pg. 435-439
(May 2017)
ISSN: 1097-0223 [Electronic] England |
PMID | 28207930
(Publication Type: Case Reports, Journal Article)
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Copyright | © 2017 John Wiley & Sons, Ltd. |
Chemical References |
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Topics |
- Adult
- Amniotic Fluid
(metabolism)
- Case-Control Studies
- Female
- Fetal Diseases
(metabolism, pathology)
- Fetus
(metabolism, pathology)
- Glycosaminoglycans
(metabolism)
- Humans
- Mucopolysaccharidosis VII
(embryology, metabolism, pathology)
- Pregnancy
- Up-Regulation
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