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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 beta thalassaemia and other variants
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Interview 21
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Professional learning: She wants diagnostic tests as early as possible in pregnancy, so she could have an early termination if the baby had beta thala
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 21
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After seeing how hard life with beta thalassaemia major is for her son, she wanted diagnostic tests early in every pregnancy. In his case she found ou
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 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 sickle cell
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Interview 34
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She has talked to an imam and been advised that ending a pregnancy is allowed in Islam if the baby has a life-threatening illness. (Read by an actor.)
Mother who has a child with sickle cell anaemia diagnosed through newborn screening. If she had known in pregnancy what she now knows about the condition she might have had a termination. 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 15
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They had CVS to help them prepare for having a baby with beta thalassaemia major. They might have thought about ending the pregnancy if the baby had o
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 sickle cell
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Interview 19
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She feels she couldn't cope with another child with sickle cell anaemia. Her daughter has been well so far, but she knows another child who has had a
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
>>
Screening for sickle cell and beta thalassaemia
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Antenatal sickle cell
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Interview 19
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She comes from a strongly Christian family, but she would end a pregnancy if she thought the child would have a poor quality of life.
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 13
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They would have liked to hear other parents' experiences of making a decision. They were worried what life would be like for the baby and for themselv
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 15
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They gathered lots of information and decided to continue the pregnancy but it was a difficult choice. In the end only the parents can make this decis
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 15
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She tried to enjoy the rest of pregnancy but it wasn't always easy. Her partner felt guilty sometimes about what their son might go through.
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 15
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They worried about how they'd manage transfusions and chelation [iron removal] therapy but she felt sure they'd cope somehow.
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal sickle cell
>>
Interview 19
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She discovered her partner was a carrier late in her third pregnancy. She planned to have the baby adopted if she had sickle cell anaemia, but couldn'
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 21
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Since her son was three months old he has had blood transfusions every three weeks and chelation therapy three days a week. Recently he has had an inf
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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Newborn
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Interview 18
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Her 9-year-old son with sickle cell anaemia has been in intensive care with respiratory problems. [Son fils âgé de 9 ans avec la drépanocytose s'est r
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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Newborn
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Interview 18
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Sickle cell can be managed. She tells friends what to do, so her son can have a normal social life. [On peut vivre avec la drépanocytose. Elle dit ce
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 15
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They were told the baby would have beta thalassaemia major and would almost certainly be dependent on blood transfusions, but in fact he has remained
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 24
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Her daughter remained well till she was four, then started blood transfusions. Sometimes she asks why she is ill but her brothers are well. (Audio cli
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 16
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Her baby son was very unwell for a while before beta thalassaemia major was diagnosed. The treatment was distressing. At first she did not realise the
Mother discovered she was a beta thalassaemia carrier in first pregnancy. Husband still in Bangladesh and wasn't screened. Son born with beta thalassaemia major but has now had a bone marrow transplant. Video and audio clips in Sylheti.
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 16
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Eight months after the bone marrow transplant their 11-year-old son is doing well and needs no transfusions. It was hard at the time, but they are del
Mother discovered she was a beta thalassaemia carrier in first pregnancy. Husband still in Bangladesh and wasn't screened. Son born with beta thalassaemia major but has now had a bone marrow transplant. Video and audio clips in Sylheti.
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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Professional learning: The sickle cell counsellor explained that advances in medical care have led to improvements in survival and quality of life.
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 03
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From her experiences in hospital she was worried what life would be like for a child with sickle cell anaemia. (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 sickle cell
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Interview 03
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She would have liked someone to tell her that although many people with sickle cell anaemia have lots of problems, some live fairly normal lives. (Rea
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
>>
Antenatal sickle cell
>>
Interview 03
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When she has a crisis, it's the worst kind of pain she has ever had. Keeping warm helps her avoid getting crises. (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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal sickle cell
>>
Interview 07
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Her daughter with sickle cell anaemia had been well but suddenly started having strokes. She had three strokes before the doctors realised what was wr
Mother has hameoglobin SC disorder; partner is a sickle cell carrier. Had CVS in two pregnancies. In third pregnancy chose not to have diagnosis; baby born with sickle cell anaemia and has since had a stroke, which the mother did not realise could happen.
Pregnancy & children
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Screening for sickle cell and beta thalassaemia
>>
Antenatal sickle cell
>>
Interview 03
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Professional learning: She would have liked more positive examples of how people live with sickle cell anaemia. (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
>>
Screening for sickle cell and beta thalassaemia
>>
Newborn
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Interview 18
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Professional learning: Caring for her son with sickle cell anaemia is a cross she bears, and she is supported by the example of Christ. [Soigner son f
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal sickle cell
>>
Interview 19
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Professional learning: She would consider ending a pregnancy, even though she comes from a strongly Christian family.
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 13
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Professional learning: In the UK their only close family is his mother. His wife rang family back home in Vietnam, but they found it hard to understan
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 23
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Professional learning: They were shocked that an Italian doctor told them living with beta thalassaemia major and having transfusions would be quite e
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 sickle cell
>>
Interview 03
>>
Professional learning: Her worries about having a baby who could be in a lot of pain made her consider termination even though she was a Christian. (R
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.
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