Prenatal diagnosis of Pompe disease: enzyme assay or molecular testing?
We report two cases which illustrate that enzyme assay results alone, may at times be equivocal and inconclusive in the prenatal diagnosis of storage disorders like Pompe disease and therefore, if the probands mutation is known, targeted mutation analysis of fetal DNA is the most reliable method for fetal evaluation.
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
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Prajnya
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Rehder
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Phadke
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Bali
D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*