الفهرس 
Prenatal Diagnosis Of Mucopolysaccharidoses Type II and VI By Using Laser Spectrometry In The Amniotic Fluid
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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