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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 05
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She was shocked when she got a phone call to tell her she was a sickle cell carrier. She found it hard to take in what she was being told.
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
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Interview 08
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It is better to know in advance if your child has beta thalassaemia major, but as a Muslim she is against termination.
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 21
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Women should check if they are pregnant as soon as possible, so they can have screening and diagnosis early in pregnancy and have a termination if the
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 04
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Her husband said if he'd known they were both carriers, they probably wouldn't have got married. In a way she is glad they didn't know.
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 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
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Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 21
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She has heard Islamic religious leaders explain the soul enters the unborn baby around four months. Ending a pregnancy after this is a sin, but not be
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
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Antenatal sickle cell
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Interview 19
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She comes from a strongly Christian family, but she would end a pregnancy if she thought the child would have a poor quality of life.
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 34
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She has talked to an imam and been advised that ending a pregnancy is allowed in Islam if the baby has a life-threatening illness. (Read by an actor.)
Mother who has a child with sickle cell anaemia diagnosed through newborn screening. If she had known in pregnancy what she now knows about the condition she might have had a termination. 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 05
>>
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 24
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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
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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 24
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She is glad their daughter who has beta thalassaemia major was born and that they did not agree to termination. (Audio clip in Mirpuri.)
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
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Antenatal beta thalassaemia and other variants
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Interview 15
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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
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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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Now she has a son with SC disorder, she decided to have no tests in her current pregnancy because she would never end a pregnancy for this 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 03
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She couldn't decide what to do at first. Her husband said he'd support her whatever her decision. Ringing a confidential church helpline helped her th
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
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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 sickle cell
>>
Interview 05
>>
She would not want to know in pregnancy if her baby had a sickle cell disorder, because it would make pregnancy too stressful.
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
>>
Screening for sickle cell and beta thalassaemia
>>
Newborn
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Interview 18
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A friend plans to have preimplantation genetic diagnosis, and has asked God's forgiveness. [Une amie va avoir le diagnostique génétique de préimplanta
First baby diagnosed with sickle cell anaemia after birth. As a Christian, the mother chose not to have prenatal diagnosis in her next pregnancy. The second baby is a carrier. Her third baby is not a carrier. Video and audio clips in French.
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 see pre-implantation genetic diagnosis as a responsible way to protect their future child's health. They do not feel it is in conflict with their
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 beta thalassaemia and other variants
>>
Interview 29
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In her area there had been an information campaign to raise awareness about beta thalassaemia. This included a talk at the local Sikh temple. (Read by
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.
Pregnancy & children
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Screening for sickle cell and beta thalassaemia
>>
Newborn
>>
Interview 04
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In Nigeria her son with SC disorder was very ill with malaria. Since they have been in London, he has been as healthy as any other child. He is now 5.
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 beta thalassaemia and other variants
>>
Interview 24
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Her daughter remained well till she was four, then started blood transfusions. Sometimes she asks why she is ill but her brothers are well. (Audio cli
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
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Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 16
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In her second pregnancy she learnt the new baby could be a donor match for her son to have a bone marrow transplant. There was a risk the baby might h
Mother discovered she was a beta thalassaemia carrier in first pregnancy. Husband still in Bangladesh and wasn't screened. Son born with beta thalassaemia major but has now had a bone marrow transplant. Video and audio clips in Sylheti.
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 16
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Eight months after the bone marrow transplant their 11-year-old son is doing well and needs no transfusions. It was hard at the time, but they are del
Mother discovered she was a beta thalassaemia carrier in first pregnancy. Husband still in Bangladesh and wasn't screened. Son born with beta thalassaemia major but has now had a bone marrow transplant. Video and audio clips in Sylheti.
Pregnancy & children
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Screening for sickle cell and beta thalassaemia
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Antenatal beta thalassaemia and other variants
>>
Interview 21
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She knew a boy locally with beta thalassaemia major who postponed his blood transfusion for a week. He collapsed and died when he arrived at the hospi
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 05
>>
Professional learning: She was willing to go along with whatever tests the NHS offered, but she did not know much about what she was being screened fo
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 23
>>
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal sickle cell
>>
Interview 05
>>
Professional learning: Rather than getting results in a letter or a phone call, she would have been less worried to be told to come for an appointment
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 24
>>
Professional learning: They have experience of a family member who was diagnosed with beta thalassaemia major but has remained healthy, so they do 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
>>
Newborn
>>
Interview 18
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Professional learning: Caring for her son with sickle cell anaemia is a cross she bears, and she is supported by the example of Christ. [Soigner son f
First baby diagnosed with sickle cell anaemia after birth. As a Christian, the mother chose not to have prenatal diagnosis in her next pregnancy. The second baby is a carrier. Her third baby is not a carrier. Video and audio clips in French.
Pregnancy & children
>>
Screening for sickle cell and beta thalassaemia
>>
Newborn
>>
Interview 04
>>
Professional learning: As a Christian, she believes that God will not send you a situation you cannot manage with faith.
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 beta thalassaemia and other variants
>>
Interview 16
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Professional learning: They have drawn strength from their Islamic faith in caring for their son during his bone marrow transplant. They believe medic
Mother discovered she was a beta thalassaemia carrier in first pregnancy. Husband still in Bangladesh and wasn't screened. Son born with beta thalassaemia major but has now had a bone marrow transplant. Video and audio clips in Sylheti.
Pregnancy & children
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 22
>>
Professional learning: As a Muslim, she feels screening can be useful, but termination is absolutely forbidden. You should accept your fate and pray.
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 23
>>
Professional learning: For them pre-implantation genetic diagnosis is compatible with their Christian beliefs, though the Catholic Church might not ag
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 21
>>
Professional learning: She explains the teaching of some Islamic scholars about the possibility of ending a pregnancy before the soul enters the unbor
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 19
>>
Professional learning: She would consider ending a pregnancy, even though she comes from a strongly Christian family.
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 03
>>
Professional learning: Her worries about having a baby who could be in a lot of pain made her consider termination even though she was a Christian. (R
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 13
>>
Professional learning: His wife is a practising Buddhist. Her faith would not have prevented her from considering termination, though it would have be
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 beta thalassaemia and other variants
>>
Interview 29
>>
Professional learning: She feels personal choice and attitudes are becoming more important than religion for Sikhs of her age compared to her parents'
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.
Pregnancy & children
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal sickle cell
>>
Interview 05
>>
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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal sickle cell
>>
Interview 09
>>
Professional learning: She believes God does have the power to heal her son, but she would never stop giving him his medicine. (Read by an actor.)
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
>>
Newborn
>>
Interview 18
>>
In Africa sickle cell has sometimes been seen wrongly as a curse brought to the family by one partner. [En Afrique parfois on a vu la drépancytose à t
First baby diagnosed with sickle cell anaemia after birth. As a Christian, the mother chose not to have prenatal diagnosis in her next pregnancy. The second baby is a carrier. Her third baby is not a carrier. Video and audio clips in French.
Pregnancy & children
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 16
>>
Professional learning: The mother had to care for her son on her own until her husband's visa could be arranged. It was hard for her husband not to be
Mother discovered she was a beta thalassaemia carrier in first pregnancy. Husband still in Bangladesh and wasn't screened. Son born with beta thalassaemia major but has now had a bone marrow transplant. Video and audio clips in Sylheti.
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.
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