Abstract
Several genetic disorders can have a variable age of onset from newborn period to adulthood. Some of the disorders cause significant morbidity and mortality. Definitive therapy is not available for many disorders of childhood onset. Some of the common genetic disorders of childhood onset include Down syndrome, thalassemia, hemophilia, congenital adrenal hyperplasia, Gaucher disease, and cystic fibrosis. Prenatal diagnosis offers hope in prevention of early-onset disorders associated with significant morbidity and mortality including single or multisystem involvement. Preimplantation diagnosis is also an option especially in countries where prenatal diagnosis and selective termination of affected fetuses are not legally allowed. The individual’s deoxyribonucleic acid (DNA) carries the genetic code or genetic uniqueness for that person. For the disorders caused by single-nucleotide variants (SNVs), a DNA profiling by Sanger sequencing is a commonly used option. We cover all the techniques used in DNA profiling, the indications, and limitations of the genetic testing using human DNA in the present write-up.
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Panigrahi, I., Srivastava, P. (2022). Prenatal Diagnosis of Genetic Disorders by DNA Profiling. In: Dash, H.R., Shrivastava, P., Lorente, J.A. (eds) Handbook of DNA Profiling. Springer, Singapore. https://doi.org/10.1007/978-981-16-4318-7_28
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DOI: https://doi.org/10.1007/978-981-16-4318-7_28
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