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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
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Screening for sickle cell and beta thalassaemia
Subject index
Clip
Pregnancy & children
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 15
>>
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
>>
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 beta thalassaemia and other variants
>>
Interview 15
>>
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 21
>>
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 23
>>
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.
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