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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 bebê 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 sickle cell
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Interview 20
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The sickle cell carrier test is easy to do, so she'd recommend it to everyone. [Le test pour les porteurs de la drépanocytose est facile à faire, alor
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
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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 22
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When her daughter grows up, the family will ask for her future marriage partner to be screened to check if he too is a carrier before agreeing to the
Discovered she was a beta thalassaemia carrier during her first pregnancy. Her husband was tested and is not a carrier. Their first daughter is a carrier. Video and audio clips read by an actor recorded in Urdu.
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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Their doctor advised her husband to be screened too and said that being a carrier was important information to share when they arrange marriages for t
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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Antenatal beta thalassaemia and other variants
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Interview 21
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Parents should not arrange marriages when the couple are still children, because it makes it harder to cancel the arrangement later on if they are bot
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 30
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She will advise her daughter not to marry another carrier. Parents have a duty to protect their children. If she and her husband had both been carrier
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 beta thalassaemia and other variants
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Interview 29
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She felt the risk that her partner would also be a carrier was very small, so she did not ask him to get screened before marriage. (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 29
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Her parents' generation would not want to tell other families because they feel there is a stigma associated with being a beta thalassaemia carrier. (
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 sickle cell
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Interview 09
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She would have liked to know if she or her partner were carriers before they got together. Choosing your partner carefully is important for the baby.
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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Newborn
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Interview 04
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Her husband said if he'd known they were both carriers, they probably wouldn't have got married. In a way she is glad they didn't know.
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 sickle cell
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Interview 11
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Asking a partner if they are a carrier is difficult, but having a baby with sickle cell anaemia or terminating a pregnancy is also very upsetting.
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 sickle cell
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Interview 12
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If she discovered her partner was carrier she might change partner rather than not have a child.
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 27
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If they had both been carriers they would have had no more children together.
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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Newborn
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Interview 28
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She plans to explain to her children in their early teens what being a carrier means, so they know they have to be careful.
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 beta thalassaemia and other variants
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Interview 15
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The decisions you make in a first pregnancy may be different to those you make once you know what it feels like to be a parent.
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 11
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When she became pregnant again she was so worried about having another baby with sickle cell anaemia that she decided to have an abortion straight awa
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 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
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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 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
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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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She decided not to have antenatal diagnosis because she didn't want to feel stressed during pregnancy, but it was still hard not to worry about the ba
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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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
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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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Newborn
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Interview 27
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They had never heard of haemoglobin E until they discovered the baby was a carrier.
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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Newborn
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Interview 27
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It was worrying waiting for their results and wondering if they'd be able to have more children. It was a relief that only one parent was a carrier.
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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Newborn
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Interview 26
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They are glad they discovered the baby was a carrier, but the mother worried her partner might think she'd been unfaithful and the baby had a differen
The parents were shocked when newborn screening results showed the baby was a sickle cell carrier. Both parents were screened and the mother is also a carrier.
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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They found it hard to talk to each other when the baby was diagnosed. They each felt guilty and alone. [Ils ont trouvé la communication entre eux très
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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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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Newborn
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Interview 18
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It was hard to combine work with caring for her son. Eventually she stopped working. [C'était difficile de combiner le travail avec ses responsabilité
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
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Antenatal sickle cell
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Interview 06
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Having seen family and friends with sickle cell anaemia, she felt if her child had the condition it was something she could manage. Her partner was le
During first pregnancy couple discovered they were both sickle cell carriers. CVS confirmed the baby did not have the condition and was not 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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She has a friend with a son with sickle cell anaemia. It's better to separate if both parents are carriers [Elle a une copine dont le fils a la drépan
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
>>
Newborn
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Interview 27
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Professional learning: They had the heel prick test believing it was compulsory. The results took them by surprise.
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 22
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Professional learning: As a Muslim, she feels screening can be useful, but termination is absolutely forbidden. You should accept your fate and pray.
Discovered she was a beta thalassaemia carrier during her first pregnancy. Her husband was tested and is not a carrier. Their first daughter is a carrier. Video and audio clips read by an actor recorded in Urdu.
Pregnancy & children
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal sickle cell
>>
Interview 03
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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.
Pregnancy & children
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Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 13
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Professional learning: His wife is a practising Buddhist. Her faith would not have prevented her from considering termination, though it would have be
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
>>
Newborn
>>
Interview 18
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Professional learning: It was hard to support each other. She did not want her family's pity. [Ils l'ont trouvé difficile de se donner le soutien mutu
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
>>
Newborn
>>
Interview 28
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Professional learning: She would have liked to know before pregnancy that she was a carrier.
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 sickle cell
>>
Interview 09
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Professional learning: It would be better if the NHS could screen people before they become pregnant. (Read by an actor.)
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.
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