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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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