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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 sickle cell
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Interview 20
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She asked to have carrier screening in pregnancy because of a family history of sickle cell.
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
>>
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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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
>>
Screening for sickle cell and beta thalassaemia
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Antenatal sickle cell
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Interview 20
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She was not very surprised or worried by her own carrier screening results, although it was more surprising to learn her daughter was a carrier.
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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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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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
>>
Screening for sickle cell and beta thalassaemia
>>
Newborn
>>
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal sickle cell
>>
Interview 20
>>
She asked for her daughter to have newborn screening. She was surprised that she was also a sickle cell carrier.
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
>>
Screening for sickle cell and beta thalassaemia
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Newborn
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Interview 26
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They knew about the heel prick test, but they never gave it a second thought until the letter arrived saying the baby was a sickle cell carrier.
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
>>
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 25
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At first they worried the baby was ill. There was no interpreter to explain he was a carrier. [Estavam preocupados que o bebê tinha uma doença. Não ti
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
>>
Screening for sickle cell and beta thalassaemia
>>
Newborn
>>
Interview 26
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They did not understand at first what it meant that their baby had 'abnormal haemoglobins', and they were worried she might have sickle cell anaemia.
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
>>
Screening for sickle cell and beta thalassaemia
>>
Newborn
>>
Interview 28
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Even though the letter said her son's health was not affected, she did not feel reassured and wanted to talk to a counsellor straight away.
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
>>
Newborn
>>
Interview 27
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It was easier to understand what being a carrier is once they talked to a counsellor. The midwife helped them find information in Thai.
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
>>
Newborn
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Interview 26
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The counsellor explained what being a carrier meant and reassured them the baby was healthy.
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
>>
Screening for sickle cell and beta thalassaemia
>>
Newborn
>>
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
>>
Screening for sickle cell and beta thalassaemia
>>
Newborn
>>
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
>>
Screening for sickle cell and beta thalassaemia
>>
Newborn
>>
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
>>
Screening for sickle cell and beta thalassaemia
>>
Newborn
>>
Interview 26
>>
She wasn't sure if anyone needed to know they were carriers if she or the baby were ever ill.
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
>>
Screening for sickle cell and beta thalassaemia
>>
Newborn
>>
Interview 26
>>
Professional learning: After a difficult birth, she did not pay much attention to the heel prick test. The results were a shock.
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
>>
Screening for sickle cell and beta thalassaemia
>>
Newborn
>>
Interview 27
>>
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
>>
Newborn
>>
Interview 04
>>
Professional learning: She remembers the midwife taking some blood samples from the baby, but she was not sure at the time what they were all for.
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
>>
Newborn
>>
Interview 28
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Professional learning: It helped to have a diagram to explain inheritance, and reassure her that her children will not have sickle cell anaemia, becau
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 11
>>
Professional learning: Her partner did not understand that he could be a carrier and still be healthy.
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
>>
Screening for sickle cell and beta thalassaemia
>>
Newborn
>>
Interview 28
>>
Professional learning: Getting results by telephone rather than a letter would still have been a shock but at least then you can ask questions straigh
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
>>
Newborn
>>
Interview 26
>>
Professional learning: They received newborn screening results in a letter with a leaflet in which 'sickle cell' was highlighted. They would have pref
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
>>
Screening for sickle cell and beta thalassaemia
>>
Newborn
>>
Interview 27
>>
Professional learning: They really needed to talk to someone directly about their results, and they needed help from interpreters.
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
>>
Newborn
>>
Interview 28
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Professional learning: Being dyslexic, she finds reading long medical terms hard. She would have found it easier and less frightening to talk to someo
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 beta thalassaemia and other variants
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Interview 17
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Professional learning: When her second baby was born, she felt the consultant paediatrician talked to her as if she didn't know anything about being a
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.
Topic
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Screening for sickle cell and beta thalassaemia
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Newborn screening - the effects on parents
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Newborn screening - the effects on parents
Newborn screening - the effect on parents
Pregnancy & children
>>
Screening for sickle cell and beta thalassaemia
>>
Newborn screening - the effects on parents
>>
Newborn screening - the effects on parents
Newborn screening - the effect on parents
>>
Screening for sickle cell and beta thalassaemia
>>
Newborn screening after screening in pregnancy
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Newborn screening after screening in pregnancy
Newborn screening after screening in pregnancy
Pregnancy & children
>>
Screening for sickle cell and beta thalassaemia
>>
Newborn screening after screening in pregnancy
>>
Newborn screening after screening in pregnancy
Newborn screening after screening in pregnancy
>>
Screening for sickle cell and beta thalassaemia
>>
Newborn screening without screening in pregnancy
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Newborn screening without screening in pregnancy
Newborn screening without screening in pregnancy
Pregnancy & children
>>
Screening for sickle cell and beta thalassaemia
>>
Newborn screening without screening in pregnancy
>>
Newborn screening without screening in pregnancy
Newborn screening without screening in pregnancy
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