Screening of Genetic Diseases

by Abid, Abira

Genetics

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Tsmp4rjzteugoxplzrxk 180905 s0 abid abira screening of genetic diseases intro
04:30
Screening of Genetic Diseases
Pfp48wrgqeml6andznq9 180905 s1 abid abira genetic screening
17:23
Genetic Screening
Cqacsri3svcfgzogy5jt 180905 s2 abid abira carrier testing
10:25
Carrier Testing
3gmmmp3qkynmlanihzr6 180905 s3 abid abira presymptomatic diagnosis
08:05
Presymptomatic Diagnosis
Jls7hjkttte6nwbgvtvv 180905 s4 abid abira population screening
17:29
Population Screening
Hsb46tspquuzf2ncbklw 180905 s5 abid abira prenatal and postnatal screening
15:26
Prenatal and Postnatal Screening

Lecture´s Description

Genetic Screening
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.


Carrier Testing
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.


Presymptomatic Diagnosis
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.


Population Screening
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.

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