Curriculum Mapping System
Learning Activity - Copy of Copy of 07 Obstetric Genetics
TypeLecture
ModuleLINMED - Copy of Lincoln Medicine 1 (Copy of Copy of 07 Genes and Early Embryology)
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Understand the common inheritance patterns, X linked recessive and Autosomal Recessive inheritance will be discussed in more detail in this lecture.

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Calculate carrier risks through a pedigree for an AR condition.  In particular, know the 2/3 adult sibling carrier risk for an early onset recessive condition.

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Know the carrier rates in the general population for common autosomal recessive conditions e.g. cystic fibrosis, phenylketonuria.

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Understand the Hardy-Weinburg equilibrium and how to use it to calculate carrier rates from the incidence of a condition in the general population.

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Understand the factors that can influence the Hardy-Weinburg equilibrium and their effects on gene frequency in the general population.

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Understand the basis of population screening programmes e.g. antenatal down syndrome, haemoglobinopathy, PKU, CF.

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Understand the differences between Mendelian and multifactorial inheritance (an example such as neural tube defects can be used to illustrate the interaction between genes and the environment).

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Understand the concepts of heretibility, and the liability threshold model.

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Know the factors that can influence empiric recurrence risks e.g. gender, family history, severity of condition etc.

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Know the screening tests offered during a routine pregnancy e.g. scans and trisomy screening.

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Understand the techniques used during a pregnancy for targeted prenatal diagnostic testing, in particular CVS and amniocentesis.

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Be aware of preimplantation genetic diagnosis and its clinical use for families at risk of a serious genetic condition.

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