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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
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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 beta thalassaemia and other variants
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Interview 24
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It was very stressful knowing in pregnancy that the baby had beta thalassaemia major, especially because other family members had died from the same c
Both parents are beta thalassaemia carriers. Had CVS in first pregnancy. Baby diagnosed with beta thalassaemia major and they continued the pregnancy. In three pregnancies since they chose not to have antenatal diagnosis and none of the children is affected. Some audio clips in Mirpuri. Sister-in-law also interviewed in English.
Pregnancy & children
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Screening for sickle cell and beta thalassaemia
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Antenatal sickle cell
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Interview 01
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All he had heard about sickle cell when he lived in Ghana was the belief that people with the condition usually die before they reach twenty-one.
His partner had routine screening in pregnancy and found she was a sickle cell carrier, so he also had carrier screening. Results unknown at time of interview. No family history.
Pregnancy & children
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Screening for sickle cell and beta thalassaemia
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Antenatal sickle cell
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Interview 12
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She has heard that in Nigeria people celebrate if someone with sickle cell anaemia reaches their thirties.
Female partner discovered she was HIV positive when she came to the UK. When she changed HIV consultant, a routine blood test showed she was a sickle cell carrier. Male partner has not yet had carrier screening.
Pregnancy & children
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Screening for sickle cell and beta thalassaemia
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Newborn
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Interview 18
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Awareness is vital. Parents who believe a child with sickle cell will die won't seek help. [La conscientisation est indispensable. Les parents qui cr
First baby diagnosed with sickle cell anaemia after birth. As a Christian, the mother chose not to have prenatal diagnosis in her next pregnancy. The second baby is a carrier. Her third baby is not a carrier. Video and audio clips in French.
Pregnancy & children
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Screening for sickle cell and beta thalassaemia
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Antenatal beta thalassaemia and other variants
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Interview 21
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She knew a boy locally with beta thalassaemia major who postponed his blood transfusion for a week. He collapsed and died when he arrived at the hospi
Both partners knew they were beta thalassaemia carriers. Second child born with beta thalassaemia major. Mother has had CVS in two pregnancies since, and would terminate the pregnancy if the baby was affected. Video and audio clips read by an actor and recorded in Mirpuri.
Pregnancy & children
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Screening for sickle cell and beta thalassaemia
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Antenatal beta thalassaemia and other variants
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Interview 23
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He lost two brothers to beta thalassaemia major, and a sister who died aged 30. She had a fulfilling life but he would have given anything to spare he
Couple knew before marriage they were beta thalassaemia carriers. His sister and two brothers died of beta thalassaemia major. They have tried pre-implantation genetic diagnosis to conceive a baby unaffected by the condition, so far without success. Video and audio clips read by actors.
Pregnancy & children
>>
Screening for sickle cell and beta thalassaemia
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Antenatal beta thalassaemia and other variants
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Interview 23
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They bought his sister one of the first slow infusion pumps for desferrioxamine. The family dreaded school holidays when blood for transfusions was sc
Couple knew before marriage they were beta thalassaemia carriers. His sister and two brothers died of beta thalassaemia major. They have tried pre-implantation genetic diagnosis to conceive a baby unaffected by the condition, so far without success. Video and audio clips read by actors.
Pregnancy & children
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 24
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Professional learning: She felt the specialist counsellor had not advised them very well. The family had more of a bond with the previous counsellor.
Both parents are beta thalassaemia carriers. Had CVS in first pregnancy. Baby diagnosed with beta thalassaemia major and they continued the pregnancy. In three pregnancies since they chose not to have antenatal diagnosis and none of the children is affected. Some audio clips in Mirpuri. Sister-in-law also interviewed in English.
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