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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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Newborn
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Interview 04
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Her husband had been tested in Nigeria and told he was not a sickle cell carrier. It was only when their baby was born with SC disorder that he discov
Mother knew she was a sickle cell carrier; husband was re-tested when their son was diagnosed with SC disorder, and found he was a haemoglobin C carrier. Child is doing well. Pregnant again at time of interview, no further testing.
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 15
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Their baby's health has so far been much better than predicted, so they are glad they decided not to end the pregnancy.
Father knew he was a beta thalassaemia carrier. Mother discovered in pregnancy she was also a carrier. Couple had CVS and were told the baby had beta thalassaemia major. Since birth the baby has been well and has not needed transfusions as expected.
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 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
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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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
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Interview 24
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Professional learning: They have experience of a family member who was diagnosed with beta thalassaemia major but has remained healthy, so they do not
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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