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Pregnancy & children
Screening for sickle cell and beta thalassaemia
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Full list of topics
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 02
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She had no idea what beta thalassaemia was when she got her results. The 10-day wait for her partner's results to come back was a very emotional time.
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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Antenatal beta thalassaemia and other variants
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Interview 13
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They were given helpful counselling and information to understand their results. They also found a website which was really useful.
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 sickle cell
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Interview 19
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They had a long wait for the appointment. It was painful, but she was determined to have the test and get a firm diagnosis. Her partner found it hard
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
>>
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal sickle cell
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Interview 19
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She had to call to ask about her CVS results because she couldn't bear the uncertainty. It was a relief to learn the baby was only a carrier.
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 06
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Waiting for the CVS results seemed like a death sentence, and she felt very ill. Being told the baby was not affected was a turning point.
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
>>
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 was sad to discover her first baby had SC disorder, but knowing helped her be strong. She was relieved when CVS results showed her second baby was
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 sickle cell
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Interview 03
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She was shocked to be told that the CVS showed her third baby had sickle cell anaemia. She had always thought she would have a termination in this sit
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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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 28
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Waiting for her carrier screening results over Christmas was not good timing, but she wasn't anxious because she knows carriers are healthy.
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 23
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They bought his sister one of the first slow infusion pumps for desferrioxamine. The family dreaded school holidays when blood for transfusions was sc
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
>>
Antenatal beta thalassaemia and other variants
>>
Interview 13
>>
Professional learning: They would have liked more detail about what would be involved in a termination and more support while they were waiting for hi
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 sickle cell
>>
Interview 19
>>
Professional learning: In her current pregnancy, waiting the few weeks between discovering she was pregnant and the earliest time she could have a CVS
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
>>
Professional learning: They would have preferred diagnostic testing earlier in pregnancy. Waiting for the results of his carrier screening test to com
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 sickle cell
>>
Interview 06
>>
Professional learning: By the time she realised she was pregnant and had screening and counselling, she was 17 weeks pregnant when she came for her CV
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 02
>>
Professional learning: When she got a letter saying she was a beta thalassaemia carrier she was terrified. She just wanted to get to the counselling a
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
>>
Screening for sickle cell and beta thalassaemia
>>
Newborn
>>
Interview 26
>>
Professional learning: While they were waiting for their counselling appointment, they asked the health visitor about the letter saying the baby was a
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.
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