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In this lecture ´´Screening of Genetic Diseases´´ are explained. Section one is about ´´Genetic Screening´´. Educator starts this section by explaining genetic screening. Then highlights the principles of genetic screening. Subsequently, discussion continues on timing and types of screening. In the end, educator talks about ethical considerations.
Section two is about ‘’Carrier Testing’’. Initially, educator gives information about screening those at high risk. After that carrier testing for autosomal recessive disorders and X linked disorders is carried out. Then clinical manifestations in carriers are discussed. At last, biochemical abnormalities in carriers are pursued.
Section three is about ‘’Presymptomatic Diagnosis’’. First theme of elucidation is presymptomatic diagnosis of autosomal dominant disorders. Next, presymptomatic diagnostic methods are focused. Then special investigations are pursued. Likewise, biochemical tests are elaborated. Concluding comments are given on direct mutation testing.
Section four is about ‘’Population Screening’’. Educator begins by explaining population screening. Following this, selected population screening is discussed. General population screening is elaborated later on. Moreover, criteria for screening program is highlighted. Afterwards, population carrier screening is focused. Educator also explains positive and negative aspects of population screening. In the end, genetic registers are elucidated.
Prenatal and Postnatal Screening
Section five is about ‘’Prenatal and Postnatal Screening’’. Prime emphasis is on prenatal and postnatal screening. After that fetal anomaly screening is pursued. Then discussion continues on newborn screening: clinical examination. Subsequently, newborn bloodspot screening comes under consideration. Newborn hearing screening is also covered in this part.