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Molecular Techniques for Prenatal Diagnosis

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Hematopathology

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Abstract

Inherited haematological diseases are the disorders that primarily affect the fundamental process of haematopoiesis and blood components. Any change in DNA sequence could be pathogenic if it has abnormal effect on biologic pathways within the cell. In present medical diagnosis, prenatal examination plays an important role. The era of prenatal diagnosis has evolved tremendously over the last two decades. The recent advances in molecular genetics and cytogenetic methods along with development in ultra-sonographic techniques made earlier and reliable prenatal diagnosis possible. With the evolvement of human genome project, there is a rapid increase in the number of genetic disorders for whom we can offer the prenatal diagnosis. Amniocentesis and chorionic villus sampling are two widely used invasive prenatal diagnostic procedures. To obtain complete foetal genetic information and avoid endangering the foetus, non-invasive prenatal diagnosis has become the vital goal of prenatal diagnosis. In this chapter, we have tried to summarize the current methodology and the newer techniques for the prenatal diagnosis of inherited haematological disorders.

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Author information

Authors and Affiliations

  1. National Institute of Immunohematology (ICMR), Mumbai, India

    Anita Nadkarni & Priya Hariharan

Authors
  1. Anita Nadkarni
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  2. Priya Hariharan
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Editor information

Editors and Affiliations

  1. Department of Hematology, All India Institute of Medical Sciences, New Delhi, India

    Renu Saxena

  2. Department of Hematology, All India Institute of Medical Sciences, New Delhi, India

    Hara Prasad Pati

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Nadkarni, A., Hariharan, P. (2019). Molecular Techniques for Prenatal Diagnosis. In: Saxena, R., Pati, H. (eds) Hematopathology. Springer, Singapore. https://doi.org/10.1007/978-981-13-7713-6_28

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  • DOI: https://doi.org/10.1007/978-981-13-7713-6_28

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  • Publisher Name: Springer, Singapore

  • Print ISBN: 978-981-13-7712-9

  • Online ISBN: 978-981-13-7713-6

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