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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 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 sickle cell
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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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Antenatal beta thalassaemia and other variants
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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
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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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Antenatal sickle cell
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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
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Screening for sickle cell and beta thalassaemia
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Antenatal sickle cell
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Interview 19
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In her second pregnancy she knew she was a carrier, but her then husband believed he could not be a carrier because he was so healthy. It was only in
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 beta thalassaemia and other variants
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Interview 02
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She had no idea what beta thalassaemia was when she got her results. The 10-day wait for her partner's results to come back was a very emotional 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
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Screening for sickle cell and beta thalassaemia
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Antenatal sickle cell
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Interview 14
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She was upset by the letter telling her she was a sickle cell carrier, but the counsellor reassured her. [Elle était bouleversée par la lettre qui a d
Mother discovered she was a sickle cell carrier in her first pregnancy. Father is not a carrier. He later changed his name and was recalled for screening when she was pregnant again. 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 13
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When his wife's screening results first came through, they did not realise it was anything serious till they went to see the counsellor.
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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They opened the letter telling her she was a carrier late one evening. They searched the internet for information, and were very frightened by what th
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 01
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He was not really worried once he understood that being a carrier does not affect your own health.
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 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
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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
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Screening for sickle cell and beta thalassaemia
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Antenatal sickle cell
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Interview 09
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She would have liked to know if she or her partner were carriers before they got together. Choosing your partner carefully is important for the baby.
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
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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 sickle cell
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Interview 11
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Asking a partner if they are a carrier is difficult, but having a baby with sickle cell anaemia or terminating a pregnancy is also very upsetting.
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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Antenatal sickle cell
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Interview 06
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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
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Screening for sickle cell and beta thalassaemia
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Newborn
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Interview 18
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In her second pregnancy, she had no diagnostic tests, because she wouldn't want to end the pregnancy. [La deuxième fois, elle n'a pas eu des tests dia
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 15
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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
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Screening for sickle cell and beta thalassaemia
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Antenatal sickle cell
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Interview 07
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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
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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 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
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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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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
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Screening for sickle cell and beta thalassaemia
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Antenatal sickle cell
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Interview 07
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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
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Screening for sickle cell and beta thalassaemia
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Antenatal sickle cell
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Interview 03
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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
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Screening for sickle cell and beta thalassaemia
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Antenatal sickle cell
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Interview 11
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When she became pregnant again she was so worried about having another baby with sickle cell anaemia that she decided to have an abortion straight awa
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
>>
Antenatal beta thalassaemia and other variants
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Interview 15
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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
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Screening for sickle cell and beta thalassaemia
>>
Antenatal beta thalassaemia and other variants
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Interview 24
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It was very stressful knowing in pregnancy that the baby had beta thalassaemia major, especially because other family members had died from the same c
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 sickle cell
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Interview 19
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She discovered her partner was a carrier late in her third pregnancy. She planned to have the baby adopted if she had sickle cell anaemia, but couldn'
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
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Interview 10
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During pregnancy she had so many other problems she wasn't really worried about being a carrier. She was upset when the newborn test showed her baby h
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
>>
Antenatal sickle cell
>>
Interview 11
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The newborn results showing the baby had sickle cell anaemia arrived at the same time as her partner's results. She felt very sad, and they argued at
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
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Interview 04
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It was a shock to discover the baby had SC disorder when they thought they were not at risk, but they knew they just had to live with it.
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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Newborn
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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
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Screening for sickle cell and beta thalassaemia
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Newborn
>>
Interview 18
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She was so upset she couldn't see the information video about sickle cell anaemia through her tears. [Elle était si triste qu'elle ne pouvait pas voir
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 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
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Screening for sickle cell and beta thalassaemia
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Newborn
>>
Interview 18
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They found it hard to talk to each other when the baby was diagnosed. They each felt guilty and alone. [Ils ont trouvé la communication entre eux très
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
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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 sickle cell
>>
Interview 11
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She worries all the time about her 2-year-old daughter's health, even though she has not yet had any crises.
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 14
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She has a friend with a son with sickle cell anaemia. It's better to separate if both parents are carriers [Elle a une copine dont le fils a la drépan
Mother discovered she was a sickle cell carrier in her first pregnancy. Father is not a carrier. He later changed his name and was recalled for screening when she was pregnant again. Audio clips in French.
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 sickle cell
>>
Interview 19
>>
Professional learning: Her husband believed he could not be a carrier because he was fit and strong. She trusted in him.
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 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 beta thalassaemia and other variants
>>
Interview 15
>>
Professional learning: When they opened the letter telling her she was a carrier it was too late in the evening to call anyone. People need reliable,
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 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
>>
Newborn
>>
Interview 18
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Professional learning: It was hard to support each other. She did not want her family's pity. [Ils l'ont trouvé difficile de se donner le soutien mutu
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 sickle cell
>>
Interview 19
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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 13
>>
Professional learning: They would have preferred diagnostic testing earlier in pregnancy. Waiting for the results of his carrier screening test to com
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.
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