PRECONCEPTION

1. Heather & Ian.

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PREGNANCY & PERINATAL PERIOD

1. Tom & Louise.

Learning Context:

This case study relates to a couple (Tom & Louise) who have experienced two previous miscarriages. Louise is currently 19 weeks pregnant but has just found out from an amniocentesis test that the foetus has a chromosome pattern of XYY. The case study highlights the role of genetic testing during pregnancy and also the importance of making informed decisions regarding pregnancy management. It also highlights the ethical issues involved when the exact effect of disorders are unknown and severity of the resulting condition is variable.

Core Competencies Explored: 1, 2, 3, 4, 5, 6, 7.

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2. Emily.

Learning Context:

This case study relates to a young woman (Emily) who is pregnant with her first child. Emily has an aunt who has a child with Down Syndrome and Emily is concerned for her own unborn baby's health. This case study highlights the importance of being able to distinguish a hereditary condition (eg. trisomy 21 due to a translocation) from a sporadic non-disjunction occurrence of trisomy 21, possibly due to increased maternal age. It shows the value of pedigree analysis and genetic testing where relevant and how this knowledge can alleviate health worries.

Core Competencies Explored:1, 2, 3, 4, 5 ,6 ,7

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3. Sivia

Learning Context:

This case study relates to Ehlers-Danlos syndrome in a 26 year old woman who is pregnant for the first time. The case study highlights the importance of a midwife noticing several unusual (and seemingly unrelated) clinical features in her client, which may have implications for a successful outcome regarding her client's pregnancy and the wider family's health.

Core Competencies Explored: 1,2,3,4,5,6,7

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4. Mara

Learning Context:

This case study relates to von Willebrand’s Type 1 in a 35 year old woman (Mara) who is pregnant for the first time. The case study highlights the fact that a condition such as vW Type 1 can present with such mild symptoms that the client is unaware of having the condition. This highlights the importance of the midwife recognising unusual clinical features and making the appropriate referral. This will have implications for health care in future pregnancies. The case also highlights the importance of pedigree analysis and the awareness of family members of the heritable nature of some conditions. An important issue raised here is the right of family members to know about any inherited conditions that they may also be at risk of passing on to their own children.

Core Competencies Explored: 1,2,3,4,5,6,7

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INFANCY

1. Joe.

Learning Context:

This case study relates to the genetic condition osteogenesis imperfecta (type I), in an undiagnosed infant, Joe, admitted to Accident & Emergency.
The case study also highlights the importance of family history in diagnosis and awareness amongst patients/clients of the inheritable nature of some diseases.
An important issue addressed here is the confusion that can arise with OI individuals where fractures associated with the disease could be confused with physical abuse.

Core Competencies Explored: 1, 4, 5, 6, 7

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2. Chloe.

Learning Context:

This case study relates to a couple (Melanie & Dan) who have a baby (Chloe) with serious congenital problems, caused by an unbalanced chromosome arrangement. The baby's parents are reluctant to share information regarding Chloe's condition with the rest of the family and this is worrying Dan's sister (Julie), as she believes any children that she may have in the future could also be at risk. This case study highlights the importance of family history in diagnosis and awareness amongst patients/clients of the inheritable nature of some conditions. An important issue raised here is the right of family members to know about any inherited conditions that they may also be at risk of passing on to their own children.

Core Competencies Explored: 1, 2, 3, 4, 5, 6, 7.

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3. Ellie.

Learning Context:

This case study relates to a 3 month old baby (Ellie) who has been diagnosed with cystic fibrosis and the concerns that Ellie's mother has, regarding possible risks to future offspring. The case study highlights the importance of family history in diagnosis and awareness amongst patients/clients of the inheritable nature of some diseases. In addition, it highlights the role of genetic testing and also the importance of making informed decisions regarding having more children.

Core Competencies Explored: 1, 2, 3, 4, 5, 6, 7,

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CHILDHOOD & ADOLESCENCE

1. Jasmine.

Learning Context:

This case study relates to the genetic condition Prader-Willi syndrome in a recently diagnosed young girl, Jasmine. It highlights the role of genetic testing in providing a clear diagnosis for a range of signs and symptoms, and also in providing guidance regarding future children's risk of devloping the same condition. This case study also highlights that genetic diseases may be sporadic or inherited and the challenging nature of both social and physical aspects of genetic disease.

Core Competencies Explored:1, 2, 4, 5, 6, 7

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2. Janie.

Learning Context:

This case study relates to a young girl (Janie) who has lost an older brother to Duchenne Muscular Dystrophy. Janie is concerned about the health risks for any children she may have in the future and also for any children her sister (or other members of the family) may have. The case study highlights the value of genetic testing regarding a sex-linked condition; to determine whether female members of an affected family are carriers, and so able to pass on DMD to their own offspring.

Core Competencies Explored: 1, 2, 3, 4, 5, 6, 7

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3. James.

Learning Context:

This case study relates to a young boy (James) who would like to be a driving instructor when he leaves school. However, there is a potential vision problem in his family and so the careers' advisor seeks support from the school nurse regarding an eye test. This case study highlights the importance of family history in diagnosis and awareness amongst patients/clients of the inheritable nature of some conditions. It also highlights how knowledge and vigilance regarding one's own health can help to monitor conditions eg. by an eye test.

Core Competencies Explored: 1, 2, 3, 4, 5, 6, 7

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ADULT 1

1. Bob & Carol.

Learning Context:

This case study relates to the genetic condition Huntington's Disease in a middle aged man (Bob), who has received a positive screening result for the dominant condition but has not yet been able to tell his teenage children. The case study also highlights the importance of family history in diagnosis and awareness amongst patients/clients of the inheritable nature of some late onset diseases. An important issue raised here is the right of offspring to know about any inherited conditions that they may be at risk of developing at a later age, and so passing the condition on to their own children.

Core Competencies Explored: 1, 3, 4, 5, 6, 7

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2. Cathy.

Learning Context:

This case study relates to a middle-aged woman (Cathy) who is fearful of developing breast cancer due to other incidences of cancer in the family. Cathy is referred to the genetic service and after discussion with a genetic nurse, learns that she is not at an increased risk of breast cancer but still finds it difficult to shake-off decades of worry. This case study highlights the importance of being able to distinguish a hereditary form of breast cancer (eg. BRCA1 or BRCA2) from a sporadic occurrence of breast and other cancers in the family, most likely due to increased age. It shows the value of pedigree analysis and genetic testing where relevant, and how communication of this knowledge can alleviate health worries.

Core Competencies Explored: 1, 2, 3, 4, 5, 6, 7

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3. Dennis.

Learning Context:

This case study relates to a young man (Dennis) who, has a family history of Familial adenomatous polyposis (FAP). Dennis is reluctant to attend a screening appointment but finally agrees after the birth of his daughter. Unfortunately, a colonoscopy finds hundreds of polyps and a tumour. Dennis has surgery to remove the bowel cancer and consequently needs a colostomy bag. This case study highlights the importance of being able to distinguish a hereditary condition from a sporadic occurrence, showing the value of pedigree analysis and genetic testing. It also highlights how knowledge and vigilance regarding one's own health can help to prevent life-threatening conditions.

Core Competencies Explored: 1, 2, 3, 4, 5, 6, 7

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ADULT 2

1. Gordon.

Learning Context:

This case study relates to a middle-aged man (Gordon) who develops a form of early-onset dementia. Due to the family history of dementia, Gordon is referred to the genetic services for further investigation. The case study highlights the importance of family history in diagnosis and awareness amongst patients/clients of the inheritable nature of some late onset diseases; in this case Familial Alzheimer's Disease. An important issue raised here is the right of offspring to know about any inherited conditions that they may be at risk of developing at a later age, and so passing the (autosomal dominant) condition on to their own children.

Core Competencies Explored: 1, 2, 3, 4, 5, 6, 7

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2. Eleanor.

Learning Context:

This case study relates to the genetic condition Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Eleanor, who is undergoing regular dialysis for the condition. She has never been screened for PKD but her close family history suggests that she is also suffering from its effects and consequently, she may also have passed the condition to her two adult (currently healthy) granddaughters. The case study highlights the importance of family history in diagnosis and awareness amongst patients/clients of the inheritable nature of some late onset diseases. An important issue raised here is the right of offspring to know about any inherited conditions that they may be at risk of developing at a later age, and so passing the condition on to their own children.

Core Competencies Explored: 1, 2, 3, 4, 5, 6, 7

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