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Lysosomes pp 265-291 | Cite as

Prenatal Diagnosis of Lysosomal Storage Disorders Using Chorionic Villi

  • Jyotsna Verma
  • Sunita Bijarnia-MahayEmail author
  • Ishwar C. Verma
Protocol
Part of the Methods in Molecular Biology book series (MIMB, volume 1594)

Abstract

Prenatal enzymatic diagnosis for an array of lysosomal storage disorders (LSDs) can be performed accurately, provided that a confirmed diagnosis by biochemical/molecular study in the index case is available and a strict defined protocol, specific to each individual disorder is followed. The present chapter describes the protocols for reliable and accurate prenatal enzymatic diagnoses by fluorometric and spectrophotometric methods of lysosomal storage disorders: Gaucher, Fabry, Pompe, Niemann Pick A/B, Tay Sach, Sandhoff, GM1, Mucoplysaccharidoses, Wolman, Krabbe, Metachromatic leukodystrophy, and Batten diseases using uncultured chorionic villi samples. The biological reference intervals for enzyme levels in normal and affected fetuses are given for interpretation of prenatal results. It is imperative to establish normal reference interval in each laboratory to take into account the local environment, technical variations, and different ethnicities. Besides, enzyme activity in the fetus should be represented as percentage of the mean activity of enzyme of normal fetuses. The pitfalls and challenges in prenatal diagnosis as well as technical problems in performing enzyme assays are also discussed to help the reader in standardization and performing the assays for correct diagnosis.

Key words

Prenatal diagnosis Lysosomal storage disorders Enzymatic diagnosis Chorionic villi Reference intervals 

Notes

Acknowledgement

We would like to thank our colleagues Ratna D. Puri for clinical suggestions, Renu Saxena and Sudha Kohli for their cooperation in molecular analysis, Divya C. Thomas for scientific discussion, Sandeepika, Geetu and Azad for technical assistance and the Chairman of the Hospital for his support in setting up the genetic facility.

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Copyright information

© Springer Science+Business Media LLC 2017

Authors and Affiliations

  • Jyotsna Verma
    • 1
  • Sunita Bijarnia-Mahay
    • 1
    Email author
  • Ishwar C. Verma
    • 1
  1. 1.Institute of Medical Genetics and Genomics, Sir Ganga Ram HospitalNew DelhiIndia

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