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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
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Screening for sickle cell and beta thalassaemia
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Antenatal sickle cell
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Interview 11
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Professional learning: It would be better if more health professionals knew about sickle cell disorders.
Mother knew she was a sickle cell carrier; partner had screening late in pregnancy. She was shocked when the baby was born with sickle cell anaemia. Although the baby is well, she was so afraid of having another affected baby she ended her next pregnancy.
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 29
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Although she already knew she was a beta thalassaemia carrier, she has been tested again in both pregnancies. She does not mind if it helps keep recor
Mother discovered as a student she was a beta thalassaemia carrier. When she became pregnant the first time her husband was tested and is not a carrier. Video and audio clips read by an actor.
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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Antenatal sickle cell
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Interview 09
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Professional learning: More midwives and GPs should be trained about sickle cell disorders and beta thalassaemia major, as Britain is a multicultural
Mother discovered she was a sickle cell carrier in pregnancy; the baby's father was reluctant to have screening. After the birth, she was shocked to discover the baby had sickle cell anaemia. Video and audio clips read by an actor.
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 19
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Professional learning: The receptionist at her new GP surgery was not aware children with sickle cell disorders should have an annual flu vaccination.
Mother who knew she was a sickle cell carrier. Her partner believed he was not a carrier, but her third baby was born with sickle cell anaemia. In this pregnancy she had CVS; the baby is a carrier only.
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 17
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They were told her husband had to be tested again in another pregnancy. He went to see the nurse but refused to have the test. (Read by an actor.)
Mother who is a beta thalassaemia carrier, and her husband is not a carrier. They have been told in several pregnancies they need to repeat the test, which has caused anxiety. Video and audio clips played by an actor.
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 14
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Her husband changed his name, so he was called for screening again. They called the hospital to explain. [Son mari a changé son nom, alors il a été ra
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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Antenatal beta thalassaemia and other variants
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Interview 17
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She knew she was a beta thalassaemia carrier but has been told she needs to be tested in every pregnancy - which has made her both anxious and annoyed
Mother who is a beta thalassaemia carrier, and her husband is not a carrier. They have been told in several pregnancies they need to repeat the test, which has caused anxiety. Video and audio clips played by an actor.
Pregnancy & children
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Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
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Interview 17
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She asked for screening when she got engaged. She knew there was beta thalassaemia on her father's side of the family. She was upset to discover later
Mother who is a beta thalassaemia carrier, and her husband is not a carrier. They have been told in several pregnancies they need to repeat the test, which has caused anxiety. Video and audio clips played by an actor.
Pregnancy & children
>>
Screening for sickle cell and beta thalassaemia
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Newborn
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Interview 28
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She asked to be tested for sickle cell some years ago. The result came back negative, but she discovered she was in fact a carrier after her son was s
Newborn screening showed the baby was a sickle cell carrier. The mother had been tested years ago and told she wasn't affected, but a new test showed she was a carrier.
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 14
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Midwives need to take more time to explain the aim of the screening test and prepare people for all outcomes. [Les sages-femmes devraient prendre le t
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 17
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Professional learning: There should be better information for staff about who has been tested already and what their results are. Asking people to be
Mother who is a beta thalassaemia carrier, and her husband is not a carrier. They have been told in several pregnancies they need to repeat the test, which has caused anxiety. Video and audio clips played by an actor.
Pregnancy & children
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal sickle cell
>>
Interview 20
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She did not know white people could carry sickle cell so her partner was not tested.
Mother asked for screening in pregnancy because of family history and found she was a sickle cell carrier. Newborn screening showed her baby was also a carrier. Her white partner has not been screened. some of the video and audio clips are in French.
Pregnancy & children
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal sickle cell
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Interview 12
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Professional learning: She does not believe her white partner needs to be tested because she feels it is so unlikely he will be a carrier.
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
>>
Antenatal beta thalassaemia and other variants
>>
Interview 17
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She can't see why she should keep a card with her saying she is a carrier. (Read by an actor.)
Mother who is a beta thalassaemia carrier, and her husband is not a carrier. They have been told in several pregnancies they need to repeat the test, which has caused anxiety. Video and audio clips played by an actor.
Pregnancy & children
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal sickle cell
>>
Interview 20
>>
Professional learning: Her white partner has never been offered screening.
Mother asked for screening in pregnancy because of family history and found she was a sickle cell carrier. Newborn screening showed her baby was also a carrier. Her white partner has not been screened. some of the video and audio clips are in French.
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