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Pregnancy & children
Screening for sickle cell and beta thalassaemia
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Carrier screening during or before pregnancy :
Carrier screening during pregnancy
Carrier screening for other reasons
Partner carrier screening
Feelings about the results
Views about screening :
Messages to other parents
Telling people you're a carrier :
Telling people you are a carrier: Implications for family
Telling people you are a carrier: Implications for relationships & marriage
Diagnostic tests in pregnancy :
Deciding to have diagnostic tests
Reasons for deciding not to have diagnostic tests
Experience of having diagnostic tests
Getting diagnostic test results
Deciding what to do after diagnosis
Continuing with an affected or at risk pregnancy
Pre-implantation genetic diagnosis :
Pre-implantation genetic diagnosis
Newborn tests :
Newborn screening after screening in pregnancy
Newborn screening without screening in pregnancy
Newborn screening - the effects on parents
Understanding the conditions :
Awareness/understanding about the conditions
Living with sickle cell disorders
Living with beta thalassaemia major & intermedia
Seeing other family members/friends' experiences
Information and communication with professionals :
How well do people understand the tests offered?
What kinds of information do people want?
Explaining genetics and risk
Communicating results
Advising people about their options
Values and religious beliefs
Sources of support
Timing and delay
Improving the system
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Screening for sickle cell and beta thalassaemia
Subject index
Clip
Pregnancy & children
>>
Screening for sickle cell and beta thalassaemia
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Antenatal sickle cell
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Interview 14
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She was upset by the letter telling her she was a sickle cell carrier, but the counsellor reassured her. [Elle était bouleversée par la lettre qui a d
Mother discovered she was a sickle cell carrier in her first pregnancy. Father is not a carrier. He later changed his name and was recalled for screening when she was pregnant again. Audio clips in French.
Pregnancy & children
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Screening for sickle cell and beta thalassaemia
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Newborn
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Interview 27
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Professional learning: Access to an interpreter would have helped, as his wife speaks very little English.
Newborn screening showed the baby was a haemoglobin E carrier. The mother was also found to be a carrier, but the father was not affected.
Pregnancy & children
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Screening for sickle cell and beta thalassaemia
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Newborn
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Interview 25
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At first they worried the baby was ill. There was no interpreter to explain he was a carrier. [Estavam preocupados que o bebê tinha uma doença. Não ti
The parents discovered their baby was a sickle cell carrier as a result of newborn screening. They have since learnt the father is a carrier. Video and audio clips in Portuguese.
Pregnancy & children
>>
Screening for sickle cell and beta thalassaemia
>>
Newborn
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Interview 27
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It was easier to understand what being a carrier is once they talked to a counsellor. The midwife helped them find information in Thai.
Newborn screening showed the baby was a haemoglobin E carrier. The mother was also found to be a carrier, but the father was not affected.
Pregnancy & children
>>
Screening for sickle cell and beta thalassaemia
>>
Newborn
>>
Interview 27
>>
Professional learning: They really needed to talk to someone directly about their results, and they needed help from interpreters.
Newborn screening showed the baby was a haemoglobin E carrier. The mother was also found to be a carrier, but the father was not affected.
Pregnancy & children
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
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Interview 13
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Professional learning: He liked the very detailed information provided by ApoGI, but some people might need a simpler version or a translation.
Routine pregnancy screening showed she is a carrier of beta thalassaemia, and that he carries haemoglobin E. They had amniocentesis, and the baby was unaffected. They would have had a termination if the baby was affected. Interview mainly in English with some brief discussion in Vietnamese.
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