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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
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Screening for sickle cell and beta thalassaemia
Subject index
Clip
Pregnancy & children
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal sickle cell
>>
Interview 06
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She didn't find CVS too bad, but her partner felt faint and had to leave the room.
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 sickle cell
>>
Interview 07
>>
In her first pregnancy she decided to have CVS so she could prepare for the birth, but she would not have wanted to end the pregnancy.
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 15
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They had CVS to help them prepare for having a baby with beta thalassaemia major. They might have thought about ending the pregnancy if the baby had o
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 sickle cell
>>
Interview 03
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The risk of miscarriage from CVS was less important than finding out whether her baby had sickle cell anaemia. (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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal sickle cell
>>
Interview 06
>>
She took a long time to decide to have CVS. She became ill with worry and in the end decided it was better to know if the baby was all right.
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 21
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After seeing how hard life with beta thalassaemia major is for her son, she wanted diagnostic tests early in every pregnancy. In his case she found ou
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 24
>>
Although she had CVS in her first pregnancy she knew she would not terminate. In her other pregnancies she had no tests and has left it to Allah. (Aud
Both parents are beta thalassaemia carriers. Had CVS in first pregnancy. Baby diagnosed with beta thalassaemia major and they continued the pregnancy. In three pregnancies since they chose not to have antenatal diagnosis and none of the children is affected. Some audio clips in Mirpuri. Sister-in-law also interviewed in English.
Pregnancy & children
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 15
>>
They might consider testing again for other conditions such as Down's syndrome but not for beta thalassaemia, given how well their first child is [now
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 sickle cell
>>
Interview 03
>>
She was given a clear explanation of what CVS would involve, and did not find it too painful. (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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal sickle cell
>>
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 15
>>
She was upset during the CVS. It was not especially painful, but she was feeling emotional and worried about the baby.
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 sickle cell
>>
Interview 07
>>
She found CVS so painful she decided not to have it for her third baby, who was born with sickle cell anaemia. Another time she would have CVS again.
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal sickle cell
>>
Interview 19
>>
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal sickle cell
>>
Interview 06
>>
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
>>
Antenatal sickle cell
>>
Interview 07
>>
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal sickle cell
>>
Interview 03
>>
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 21
>>
She had CVS in her second pregnancy after her mother-in-law had a baby with beta thalassaemia major, but felt it was too late to have a termination wh
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 15
>>
Professional learning: He never felt any pressure from staff over what they should do, but in some ways he wished someone could have given them more d
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 sickle cell
>>
Interview 09
>>
Professional learning: If the midwives had booked diagnostic tests for her in pregnancy she might have gone, but they didn't pursue it very actively.
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 24
>>
Professional learning: Her brother and sister-in-law felt pressured into having CVS and considering termination in their first pregnancy. They did not
Both parents are beta thalassaemia carriers. Had CVS in first pregnancy. Baby diagnosed with beta thalassaemia major and they continued the pregnancy. In three pregnancies since they chose not to have antenatal diagnosis and none of the children is affected. Some audio clips in Mirpuri. Sister-in-law also interviewed in English.
Pregnancy & children
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal sickle cell
>>
Interview 19
>>
Professional learning: The first person she turns to with any queries is her specialist sickle cell counsellor, who provides excellent care and suppor
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 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 21
>>
Professional learning: She wants diagnostic tests as early as possible in pregnancy, so she could have an early termination if the baby had beta thala
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 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.
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