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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 beta thalassaemia and other variants
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Interview 30
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Screening helps parents find out as much as they can about their children's health.
Mother discovered through screening in pregnancy that she carries Haemoglobin D Punjab. Her husband is not a carrier. Newborn screening showed her second baby is also a carrier. Video and audio clips in Urdu.
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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People have different views, but screening helps you be prepared, even if you would not end a pregnancy.
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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Newborn
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Interview 25
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The baby's health is the most important thing. Parents have to act responsibly and inform themselves. [A saude du bebĂȘ o mais importante. Os pais tem
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
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Screening for sickle cell and beta thalassaemia
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Antenatal sickle cell
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Interview 03
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Choice is really important. Screening and diagnosis help you make choices, whatever your opinions. (Read by an actor.)
Woman with haemoglobin SC disorder. Husband discovered he was a sickle cell carrier. Had CVS in all three pregnancies. The first and second babies had SC disorder, but the third 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 beta thalassaemia and other variants
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Interview 08
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It is better to know in advance if your child has beta thalassaemia major, but as a Muslim she is against termination.
Mother tested in first pregnancy and discovered she was a beta thalassaemia carrier. Husband was also tested and is not a carrier. Both their daughters are carriers. Interview translated into English from original in Urdu and Mirpuri.
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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Any test that gives you information about your baby's health is definitely worth doing.
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 19
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Having seen the effects of sickle cell anaemia in her family, she thinks screening is the best decision any parent can make.
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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Beta thalassaemia major is a very serious condition, and she would advise parents to think about screening before they have children. (Read by an acto
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 beta thalassaemia and other variants
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Interview 29
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The earlier you are screened in pregnancy the better, so you have time to make decisions. (Read by an actor.)
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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Antenatal beta thalassaemia and other variants
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Interview 13
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Screening raises worries and choices you would otherwise not have, especially if the baby is in fact healthy. But he is still glad they discovered the
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.
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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They see pre-implantation genetic diagnosis as a responsible way to protect their future child's health. They do not feel it is in conflict with their
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
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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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Their GP gave them little help in getting tests done or finding information. They feel PGD is seen as an expensive luxury, rather than a way of preven
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
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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 24
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Professional learning: Her brother and sister-in-law felt pressured into having CVS and considering termination in their first pregnancy. They did 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.
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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Professional learning: For them pre-implantation genetic diagnosis is compatible with their Christian beliefs, though the Catholic Church might not ag
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
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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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Professional learning: She feels personal choice and attitudes are becoming more important than religion for Sikhs of her age compared to her parents'
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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Antenatal beta thalassaemia and other variants
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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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