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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
>>
Antenatal sickle cell
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Interview 01
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His partner and he had screening in pregnancy because they thought it was routine and just something everyone did.
His partner had routine screening in pregnancy and found she was a sickle cell carrier, so he also had carrier screening. Results unknown at time of interview. No family history.
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 02
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She did not realise she was being screened for beta thalassaemia, so was shocked to learn she was a carrier.
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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Even though they had a leaflet about the carrier screening test, they never believed they could be affected.
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 beta thalassaemia and other variants
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Interview 15
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He knew from childhood that he was a beta thalassaemia carrier, and suggested his partner should be tested during pregnancy, but they never expected h
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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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
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Screening for sickle cell and beta thalassaemia
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Antenatal sickle cell
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Interview 10
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She believed it was the law that she had to have screening. She was upset to discover she was a carrier, but she thinks it is important to have the te
Mother discovered from antenatal screening she was a carrier of haemoglobin C. The baby's father was no longer in the UK to be screened. A newborn test showed the baby had SC disorder.
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 17
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She knew she was a beta thalassaemia carrier but has been told she needs to be tested in every pregnancy - which has made her both anxious and annoyed
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.
Pregnancy & children
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal sickle cell
>>
Interview 01
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People have different views, but screening helps you be prepared, even if you would not end a pregnancy.
His partner had routine screening in pregnancy and found she was a sickle cell carrier, so he also had carrier screening. Results unknown at time of interview. No family history.
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 20
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The sickle cell carrier test is easy to do, so she'd recommend it to everyone. [Le test pour les porteurs de la drépanocytose est facile à faire, alor
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
>>
Antenatal beta thalassaemia and other variants
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Interview 29
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Although she already knew she was a beta thalassaemia carrier, she has been tested again in both pregnancies. She does not mind if it helps keep recor
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
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Antenatal beta thalassaemia and other variants
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Interview 17
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Beta thalassaemia major is a very serious condition, and she would advise parents to think about screening before they have children. (Read by an acto
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.
Pregnancy & children
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
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Interview 29
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The earlier you are screened in pregnancy the better, so you have time to make decisions. (Read by an actor.)
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 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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 13
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Screening raises worries and choices you would otherwise not have, especially if the baby is in fact healthy. But he is still glad they discovered the
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 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
>>
Antenatal sickle cell
>>
Interview 09
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The baby's father said he was afraid of needles, and he would not agree to be screened during the pregnancy. She wonders if he already knew he was a c
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 sickle cell
>>
Interview 01
>>
Professional learning: He felt screening in pregnancy was just a routine part of care. He would never have thought of having screening otherwise.
His partner had routine screening in pregnancy and found she was a sickle cell carrier, so he also had carrier screening. Results unknown at time of interview. No family history.
Pregnancy & children
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 02
>>
Professional learning: She did not know what all the blood tests in pregnancy were for. It did not help seeing different midwives each 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
>>
Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 13
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Professional learning: At first they did not take carrier screening seriously. They'd never heard of the conditions and they never expected to discove
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 05
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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
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Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 02
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Professional learning: Her midwife did not tell her much about her results, but the specialist counsellor explained everything in great detail, using
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
>>
Antenatal sickle cell
>>
Interview 03
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She wanted to avoid marrying a carrier, but did not realise that carriers are fit and healthy, so her husband was not tested until she was pregnant. (
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
>>
Antenatal sickle cell
>>
Interview 06
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Her partner had screening first and found he was a carrier. By that time she was already pregnant, and so she asked to be screened too.
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 25
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The baby's health is the most important thing. Parents have to act responsibly and inform themselves. [A saude du bebĂȘ o mais importante. Os pais tem
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
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Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
>>
Interview 22
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She was already pregnant and was screened on arrival to the UK. Her midwife confirmed she was a beta thalassaemia carrier. She realised that she had k
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 sickle cell
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Interview 03
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Choice is really important. Screening and diagnosis help you make choices, whatever your opinions. (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
>>
Newborn
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Interview 27
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Any test that gives you information about your baby's health is definitely worth doing.
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
>>
Antenatal beta thalassaemia and other variants
>>
Interview 22
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They were worried at first when they discovered she was a beta thalassaemia carrier, but it was a relief when her husband's results showed he was not
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 sickle cell
>>
Interview 07
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She thought her partner was not a sickle cell carrier but it turned out he was. She did not have enough information to help her before choosing a part
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 05
>>
Professional learning: When she was a child her family thought she had only a tiny amount of haemoglobin S which would disappear eventually.
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 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
>>
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 sickle cell
>>
Interview 06
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Professional learning: She was very satisfied with the counselling she received. She had not realised what the risks were and it helped her decide to
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
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Professional learning: Her partner assured her he was not a sickle cell carrier but they discovered later he 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 beta thalassaemia and other variants
>>
Interview 22
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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.
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