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Genetic Testing and Diagnosis

CHAPTER OBJECTIVES
  • Newborn Screening
  • Heterozygote Screening
  • Presymptomatic Testing
  • Prenatal Genetic Testing and Diagnosis (PND)
  • Indications for PND
  • Non-invasive Testing
    • –Ultrasound
    • –Maternal Serum Screening
    • –Foetal cell sorting
  • Invasive Testing
    • –Amniocentesis
    • –Chorionic villus sampling
    • –Cordocentesis
    • –Preimplantation Genetic Diagnosis

Improvements in our understanding of human heredity and the identification of numerous disease-causing genes have led to the progress of many tests for genetic conditions. The ultimate goal of genetic testing is to recognize the potential for a genetic condition at an early stage. In some cases, genetic testing allows early intervention that may lessen or even prevent ...

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