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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 03
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She wanted to avoid marrying a carrier, but did not realise that carriers are fit and healthy, so her husband was not tested until she was pregnant. (
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 11
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Her partner was reluctant to be screened during pregnancy. He could not believe there could be anything wrong with him.
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 17
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She told her fiancé when she discovered she was a beta thalassaemia carrier, but they found it difficult to get him tested in Pakistan. (Read by an ac
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 07
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She thought her partner was not a sickle cell carrier but it turned out he was. She did not have enough information to help her before choosing a part
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
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Antenatal beta thalassaemia and other variants
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Interview 13
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Waiting for the amniocentesis results was very hard. They had decided they would have ended the pregnancy if the baby had the condition.
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 21
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She found out she was a beta thalassaemia carrier when she came to the UK from Pakistan to join her husband. He already knew he was a carrier. (Read b
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 06
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When she discovered both she and her partner were sickle cell carriers, she called her mum for support.
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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Newborn
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Interview 28
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When she got her son's newborn screening test results, she rang her father to ask about family history. She discovered he knew he was a sickle cell ca
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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Newborn
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Interview 26
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They tried to work out with the family where the sickle cell gene had come from. She made sure her sister and a female cousin knew about it, but her p
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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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 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 sickle cell
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Interview 05
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She felt strongly as a Christian that she did not want any diagnostic tests, and has faith her baby will be healthy.
The couple discovered in pregnancy they were both sickle cell carriers. She felt strongly as a Christian that she did not want any diagnostic tests, and has faith her baby will be healthy.
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 23
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Professional learning: He sees a 25% risk as being like putting your child in the middle of a four-lane road, knowing a car will come along in one of
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 sickle cell
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Interview 05
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Professional learning: Her family are not worried that she is a sickle cell carrier, because they draw strength from their Christian faith.
The couple discovered in pregnancy they were both sickle cell carriers. She felt strongly as a Christian that she did not want any diagnostic tests, and has faith her baby will be healthy.
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 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
>>
Newborn
>>
Interview 04
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She had known from childhood she was a sickle cell carrier. Others in her family were carriers but no-one had the condition.
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal sickle cell
>>
Interview 19
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In her second pregnancy she knew she was a carrier, but her then husband believed he could not be a carrier because he was so healthy. It was only in
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 02
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Her mum (who is part Greek-Cypriot) knew she herself was a beta thalassaemia carrier but did not realise it could affect her daughter.
Discovered she was a beta thalassaemia carrier from routine screening during pregnancy. She was not aware she was being tested. Partner was tested and is not 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 04
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When her husband's family discovered he carried haemoglobin C and the baby had SC disorder they were scared at first. Most of them have since been tes
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 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.
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