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Related Experiment Videos

Rapid prenatal testing for human beta-glucuronidase deficiency (MPS VII).

Marvin R Natowicz1, Ferruh Isman, Elizabeth M Prence

  • 1Department of Medical Genetics, Shriver Center, Waltham, MA 02254, USA. natowim@ccf.org

Genetic Testing
|December 4, 2003
PubMed
Summary

Prenatal diagnosis for mucopolysaccharidosis type VII (MPS VII) can now be performed using amniotic fluid enzyme analysis. This method offers a faster result for detecting MPS VII in at-risk pregnancies.

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Area of Science:

  • Biochemistry
  • Genetics
  • Medical Diagnostics

Background:

  • Prenatal diagnosis of lysosomal storage disorders typically relies on enzyme analysis of cultured amniocytes or chorionic villi.
  • Limited data exist on prenatal diagnosis of lysosomal disorders via amniotic fluid enzyme analysis.
  • Enzyme analysis of amniotic fluid offers a potentially faster method for prenatal testing.

Purpose of the Study:

  • To develop and validate an assay for prenatal diagnosis of beta-glucuronidase deficiency (mucopolysaccharidosis type VII, MPS VII) using amniotic fluid.
  • To confirm the reliability of the amniotic fluid assay by comparing results with established methods.

Main Methods:

  • Enzyme analysis of beta-glucuronidase activity in amniotic fluid.
  • Confirmation of diagnosis through enzyme analysis of cultured amniocytes and fetal fibroblasts.

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Main Results:

  • The study describes a novel assay for prenatal diagnosis of MPS VII using amniotic fluid.
  • The reliability of the amniotic fluid assay was confirmed in detecting an affected fetus.
  • Results from amniotic fluid analysis were consistent with those from cultured cells.

Conclusions:

  • Enzyme analysis of amniotic fluid provides a viable and potentially rapid method for prenatal diagnosis of MPS VII.
  • Confirmation of amniotic fluid results with enzyme or mutation analysis of cultured cells (amniocytes or chorionic villi) is recommended due to the rarity of MPS VII and limited prior use of amniotic fluid analysis for lysosomal disorders.