Molecular Techniques for Prenatal Diagnosis

  • Anita Nadkarni
  • Priya Hariharan


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.


Invasive and non-invasive prenatal diagnosis Molecular diagnosis Haematological disorders 


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Copyright information

© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  • Anita Nadkarni
    • 1
  • Priya Hariharan
    • 1
  1. 1.National Institute of Immunohematology (ICMR)MumbaiIndia

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