الفهرس 
English CoverOnly 14 pages are availabe for public view
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Abstract
Objective: to introduce quantitative determination of heparan sulfate and dermatan sulfate by mass spectrometry (MS) and to compare it with two dimensional electrophoresis (2-DEP) of the GAGs in the amniotic fluid in the prenatal diagnosis(PD) of MPS II & VI. Material and Methods: 40 pregnants with single fetus were subjected to amniocentesis at 16 weeks.20 with previous affected MPS sibling(10 MPS II & 10 MPS VI) and 20 pregnants as controls. PD was done by both MS & 2-DEP. Results:2-DEP showed 4 affected & 6 non affected fetuses in MPS II and showed 5 affected and 5 non affected fetuses in MPS VI.MS verified these results. Conclusion: Prenatal diagnosis is recommended for pregnants with either a previous affected sibling or a positive family history of MPS.2-DEP of the GAGs in amniotic fluid is a good qualitative method and MS is a new accurate quantitative method for prenatal diagnosis of MPS type II and type VI. Quantitative determination of GAGs in AF by mass spectrometry takes less working hours. Mass spectrometry could be used more in the future as it gives rapid results.