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Sickle Cell Disease Case Study
The purpose of this case study is to provide analysis of sickle cell disease (SCD), investigate the involvement of the family in making healthcare decisions, and determine the role of grants and FDA regulations in scientific and pharmaceutical advances. Sickle cell disease is considered as one of the most dangerous conditions since the patients diagnosed with it risk not to reach their adulthood even under the conditions of appropriate care and treatment. Therefore, it is necessary to promote awareness of this disease and discover new testing and therapeutic approaches to this illness. This case study will incorporate the genetic factors of SCD, including chromosomal analysis, gene mutation, the origin and cause of disease along with educational considerations of the provider to the patient. The importance of nutritional assessment and supplementation will also be a focus of treatment and how it relates to prognosis.
FDA Regulations for Introducing New Pharmaceutical Agents
The major purpose of the FDAs activity is to provide US citizens with high-quality food and medical products. The introduction of new pharmaceutical agents makes it possible to make the lives of many people better by improving their health condition. However, the process of introducing these agents is not an easy matter (Ciociola, Cohen, Kulkarni, & the FDA-Related Matters Committee of the American College of Gastroenterology, 2014). Therefore, special FDA regulations are needed to make this process easier and allow people to obtain access to new treatment opportunities sooner (Ciociola et al., 2014).
Currently, the process of producing a new drug is costly and lengthy. Thus, the FDA has introduced several new laws to simplify this process. According to Ciociola et al. (2014), the FDA Safety and Innovation Act of 2013 are aimed at enhancing the process of drug approval and making access to new drugs less complicated. Along with making the process of drug approval fasted, the FDA takes care of checking its quality (Ciociola et al., 2014). Therefore, the guidelines and reasons behind the FDA regulations for introducing new pharmaceutical agents are concerned with providing patients with better access to new drugs while making sure that nothing can threaten their health.
The Role that Money and Grants Play in Scientific Advances
Every day, scientists make incredible discoveries that are aimed at making peoples lives better. Their persistent work could give outstanding results if there were no obstacles in the way. Unfortunately, such barriers exist, and the biggest one of them is the financial burden. Over the past five decades, the federal funding of research projects in the US has decreased considerably (Loria, 2015). In 1968, 10% of the budget was given to research, while in 2015, the number was 3% (Loria, 2015). Since researchers cannot perform their work relying solely on their resources, they resort to philanthropists and grant programs to obtain financial support. Therefore, it is possible to conclude that the role of money in scientific advances is rather significant.
Scientists need to employ assistants and buy equipment. They perform many hours of work which should be compensated appropriately. They need to rent offices and travel to perform experiments and make tests (Weinberg et al., 2014). All of these activities are impossible to complete without financial support. Therefore, researchers rely on their hopes on federal funding and private help from philanthropists. Without money, no scientific advancements can be achieved. Without research breakthroughs, thousands of people may never be cured of their diseases and have a normal lifestyle. Thus, it is crucial to launch grants programs that will help scientists to make valuable discoveries for the future of the world.
The Role and Involvement of Family in Making the Healthcare Decisions
Since sickle cell disease is an inherited condition, the role of the family in making healthcare decisions is the most significant one. The patients parents, siblings, and other caregivers should be aware of the diseases development, complications, and treatment methods to reach the best outcomes for the child (Porter, Graff, Lopez, & Hankins, 2014). Family members need to learn all the aspects of the illness to be able to make correct and beneficial healthcare decisions for their child.
The most common concerns of family members are associated with the transition from pediatric to adult care (Porter et al., 2014). The following issues are frequently discussed in this connection:
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the need to change a familiar provider;
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the barriers and challenges faced during the process of transition;
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the possibility for patients to manage their condition by themselves;
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the apprehension of self-management skills being not enough for a quality lifestyle (Porter et al., 2014).
To minimize the risks for a patient, family members need to learn about the diagnostic and treatment options. Also, the family should make sure that the patient visits doctors regularly, and they should keep notes of each new test and recommendation.
A crucial aspect of family involvement is presented by learning opportunities (Porter et al., 2014). Parents and caregivers of children diagnosed with SCD should have access to the information about the illness and should have support from the community and medical institutions in which the child is being treated. Sickle cell disease is not a condition to face alone. Strong support from family and their wise decisions are needed to eliminate the risks and increase the childs chances to reach adulthood.
The Description of Disease, Its Prevalence, and Incidence
Sickle cell disease is a hematological disorder that impacts millions of people (Ware, de Montalembert, Tshilolo, & Abboud, 2017). The disease is caused by abnormal erythrocytes that have the shape of a sickle (hence the name). These erythrocytes obstruct blood flow in small vessels. Such vaso-occlusion causes inflammation and distal tissue ischemia (Ware et al., 2017). Knowing that a disease inherited as a complex trait and has a significant hereditary component does not mean that the genes and molecular variants involved are known. The cause of SCD is the inherited abnormal beta-globin alleles carrying the sickle mutation on the HBB gene (Ware et al., 2017). The disease is more prevalent in developing countries and occurs more frequently in the people of Afro-American origin (Ware et al., 2017). Sickle cell disease may cause severe complications such as hypoxia, meningitis, anemia, or organ damage (Ware et al., 2017). Current treatment options include blood transfusion and hydroxycarbamide (Ware et al., 2017). Scientists are working on the development of better diagnostic and treatment methods.
Possible Laboratory Testing
About half of the children having sickle cell disease die before reaching adulthood (Yang et al., 2013). To decrease this number, there is an acute need for accurate diagnostic techniques. The best of the current methods of laboratory testing for SCD is the transcranial Doppler screening (TCD) (Ware et al., 2017). With the help of TCD, it is possible to notice the abnormality in patients blood (Naffaa, Tandon, & Irani, 2015). Another method of testing for the disease is magnetic resonance imaging (MRI) (Naffaa et al., 2015). Yang et al. (2013) discuss future laboratory testing possibilities such as a cheap and fast point-of-care test that will enable physicians to notice the sickle cell carriers in patients blood.
The Chromosomal Analysis
The chromosomal analysis of sickle cell disease is focused on beta-globin mutations. The disorder is provoked by the abnormal beta-globin alleles that are transmitting the sickle mutation on the hemoglobin subunit beta, or HBB gene (Glu6Val, ²S) (Ware, de Montalembert, Tshilolo, & Abboud, 2017). Sickle cell disease is an inherited disorder with the most severe type being homozygous HbSS, or sickle cell anemia (Ware et al., 2017, p. 1). Sickle cell anemia occurs if a child inherits ²S from both of the parents. Under such circumstances, the pathological sickle hemoglobin tetramer is being formed (±2²S2, HbS) (Ware et al., 2017). Other kinds of the disease are represented by compound heterozygous conditions:
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hemoglobin C (HbC) with HbS (HbSC) ;
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HbS with ²-thalassemia (HbS/²0-thalassaemia or HbS/²+-thalassaemia) ;
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HbS with other beta-globin variants such as HbSD or HbSOArab (Ware et al., 2017, p. 1).
Each of these forms expresses enough HbS to provoke intracellular sickling. When a child inherits both HbA and HbS, he or she acquires a condition called sickle cell trait. Although it is not officially a form of sickle cell disease, it may be related to negative health outcomes (Ware et al., 2017).
The Causes of the Disorder
Sickle cell disease is generated by abnormal erythrocytes with the shape of a sickle. As a result of these erythrocytes obstruction of the flow of blood in small vessels, a person may develop inflammation or distal tissue ischemia (Ware et al., 2017). Sickle cell disease is an inherited illness. The complications include anemia, organ damage, meningitis, and hypoxia (Ware et al., 2017).
Origin of the Disorder
Sickle cell disease has a single gene inheritance (Ribeil et al., 2017). The disease is caused by a homozygous missense mutation in the beta-globin gene that leads to polymerization of hemoglobin S (Ribeil et al., 2017, p. 848). Beta-globin is one of the elements constituting hemoglobin. Hemoglobin contains two alpha-globin subunits and two beta-globin subunits. Mutations in the HBB lead to the creation of different forms of beta-globin. One of HBB gene mutations provoke an abnormal type of beta-globin called hemoglobin S. In individuals with sickle cell disease, hemoglobin S substitutes the minimum of one beta-globin subunit.
Sickle cell disease belongs to the most frequent inherited monogenic illnesses (Ribeil et al., 2017). This condition was the first to have the molecular basis established: a single amino acid substitution in adult ²A-globin (Glu6Val) stemming from a single base substitution (A’T) in the first exon of the human ²A-globin gene was explored in 1956 (Ribeil et al., 2017, p. 848). Sickle hemoglobin decreases the ability of red cells to deform through polymerization on deoxygenation (Ribeil et al., 2017). People suffering from SCD frequently experience vaso-occlusive crises that cause irrevocable damage to organs, low quality of life, and decreased life expectancy (Ribeil et al., 2017). There is only one illness-modifying therapy accepted for sickle cell disease hydroxyurea that can increase fetal hemoglobin amount in some people (Ribeil et al., 2017). The only curative choice is allogeneic hematopoietic stem-cell transplantation (Ribeil et al., 2017, p. 848). Still, only less than one-fifth of patients has a matched sibling donor (Ribeil et al., 2017). There is a high probability of reaching positive treatment results with the use of therapeutic ex vivo gene transfer into autologous hematopoietic stem cells (Ribeil et al., 2017, p. 848).
Considerations for Practice and Patient Education
There are some difficulties presented by the identification of pain as that of resulting from sickle cell disease (Matthie & Jenerette, 2015). Patients frequently complain of nurses insufficient knowledge of the illness and their inability to relieve the pain crises promptly. As a result, it is crucial to develop a relevant care plan that would contain the most significant issues that should be known by nurses (Matthie & Jenerette, 2015). There are no objective signs of a sickle pain crisis, and every patients reaction to pain and coping techniques vary. Therefore, when creating a care plan, it is necessary to consult with patients as experts in their condition. It is crucial to arrange advocacy for patients because it will allow more efficient communication with medical workers (Matthie & Jenerette, 2015). With the help of care plans, nurses will be more aware of the peculiarities of the disease and will be able to give the most suitable care necessary for their patients to manage pain crises.
Another aspect of successful management of SCD is patient education and self-care (Matthie, Jenerette, & McMillan, 2015). As well as in any chronic condition, home management of the disease helps patients to prevent crises and relieve pain. The most significant aspects influencing patients level of self-care, as reported by Matthie et al. (2015) are social support, self-efficacy, and the number of years of education.
Patients should be instructed to contact their provider as soon as they notice any of the following:
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symptoms of a stroke: weakness in extremities, dizziness, difficulty speaking;
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signs of a heart attack: chest pain, vomiting, shortness of breath, discomfort in stomach, neck, or back;
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excessive tiredness;
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inability to think clearly;
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coughing up blood;
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hematuria;
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inability to cope with the pain ( Sickle cell disease, n.d.).
The Gene Mutation of the Disease
Sickle cell disease is an inherited illness. The disease results from a single point mutation in the seventh codon of the beta-globin gene (Hoban et al., 2015, p. 2597). The most common characteristics of this condition are severe painful crises and anemia. Sickle cell disease is caused by a mutated variant of a gene that takes part in the production of hemoglobin; having the responsibility of carrying oxygen in red blood cells. When a person has two copies of the sickle cell gene, they have got the illness. When a person has only one copy of the sickle cell gene, they dont have the illness, however, they can pass it to their children.
The mutation is called homozygous missense, and it takes place in the beta-globin gene (Ribeil et al., 2017, p. 848). As a result, hemoglobin S is polymerized, and it replaces at least four of the subunits of beta-globin (Ribeil et al., 2017). To reduce the detrimental impact of gene mutation leading to SCD, professionals work on the development of new therapeutic approaches. Sun and Zhao (2014) suggest the use of disease-specific patient-derived human induced pluripotent stem cells (hiPSCs) as a highly promising option for the treatment of disorders induced by gene mutations (p. 1048). According to Sun and Zhao (2014), when the illness-causing mutations are corrected in place, patient-derived hiPSCs have the potential for renovating the functions of cells and acting as a renewable autologous cell source for the management of genetic illnesses (p. 1048). Therefore, SCD is caused by a single point mutation, and scientists are working on the development of relevant treatment methods to prevent the detrimental outcomes of the disorder.
The Impact of Genetics on Policy Issues
When dealing with sickle cell disease, it is necessary to pay attention to the impact of genetics on policy issues. The genetic screening and testing of children are typical activities in the process of diagnosing SCD. However, it is necessary to take into consideration the best interest of children when performing these operations (Ross, Saal, David, & Anderson, 2013, p. 234). According to Ross et al. (2013), more and more research studies are dedicated to the clinical and psychological outcomes of genetic testing and screening.
Genetic testing is identical to other medical diagnostic assessment tools when it is done with diagnostic aims. A laboratory technician has to notify a childs parents or guardians of the probable benefits and damages of the testing procedure (Ross et al., 2013). The benefits incorporate the likelihood of therapeutic or preventive procedures, resolutions concerning surveillance, the simplification of diagnostic and prognostic measures, and the risks of the repeated occurrence of the disease. The medical damages may happen when the childs parents demonstrate an inappropriate reaction to the test outcomes. These may include trying unverified preventive or therapeutic measures, especially if they are unproductive or may lead to severe adverse consequences (Ross et al., 2013).
One of the greatest risks of some genetic tests is the disclosure of misattributed parenting (Ross et al., 2013, p. 235). Apart from that, genetic screening discoveries may be psychologically confusing or life-saving. Positive findings include the establishment of a gene that is associated with preventable cancer. Psychologically challenging results may involve diagnosing a gene sequence variant of unidentified clinical relevance (Ross et al., 2013, p. 235). Several factors undermine the rationalization of doing genetic testing or screening. Such reasons include the situations when the medical advantages of the results are doubtful, when their realization is postponed, or when the test does not outweigh the possible dangers (Ross et al., 2013). Therefore, genetics has a great impact on policy issues since it may change peoples decision on performing the tests.
Nutritional Influences for the Cause of Sickle Cell Disease
Scientists have not succeeded in finding widely accessible treatment methods for sickle cell disease. However, many efforts have been put forth analyzing the causes of this serious illness. One of the relatively understudied issues is the nutritional problems associated with SCD (Hyacinth, Gee, & Hibbert, 2010). The growing interest in this subject has led to several research studies focused on looking for the nutritional alternatives as an approach to eliminating morbidity and enhancing the patients quality of life (Hyacinth et al., 2010). Scholarly interest in under-nutrition as a severe complication of SCD started only about three decades ago.
The first significant confirmation of poor micronutrient intake proved by a dietary intervention was made by Heyman et al. in 1985 (Hyacinth et al., 2010). The results of the study performed on growth-retarded children indicated that the addition of calories and nasogastric protein supplements to the participants regular diets resulted in growth acceleration and clinical improvements. The findings also demonstrated that whereas mineral and vitamin supplements could not improve the growth of the children, energy and protein supplements had a positive impact on this factor (Hyacinth et al., 2010). Although the study was limited by a rather small sample (only five children), it was a significant contribution to the analysis of the role of nutrition in patients with SCD. It was proved that malnutrition was one of the aggravations of the illness (Hyacinth et al., 2010).
The most comprehensive data concerning the impact of nutrition on patients with SCD is related to micronutrient deficiencies in minerals (iron, zinc, copper, and magnesium) and vitamins (B vitamins, antioxidants, and vitamin D) (Hyacinth et al., 2010). Many scholars dedicate their research to finding the most appropriate approaches to manage malnutrition with the help of interventions (Hyacinth, Adekeye, & Yilgwan, 2013). Both single-nutrient and combined supplementation measures have been proposed. A recent study of vitamin D supplements indicates that children receiving a higher amount of it demonstrate an increase in serum vitamin D and vitamin D precursor level (Hyacinth et al., 2013, p. 28). Moreover, research indicates that children in the experimental group have a higher quality of life and a reduced level of pain. Scholars emphasize that combined nutrition is more efficient than single-nutrient supplements are (Hyacinth et al., 2013).
Al-Saqladi, Cipolotti, Fijnvandraat, and Brabin (2008) note that the nutritional status of children with SCD is highly dependent not only on the genetic background but also on social and environmental factors. Research by Adegoke, Adeodu, and Adekile (2015) supports this observation. According to Adegoke et al. (2015), patients from underdeveloped countries are reported to have more complications associated with SCD, and their quality of life is much lower than of the children in developed countries. Ansong, Akoto, Ocloo, and Ohene-Frempong (2013) remark that malnutrition is one of the factors contributing to the development of infections in SCD. To eliminate the negative outcomes of the illness in developing countries, scholars suggest educational interventions, vaccinations, and screening (Ansong et al., 2013).
Nutritional Assessment and Counseling
The process of nutritional evaluation and guidance involves the analysis of the patients growth retardation (Reid, 2013). In particular, wasting is related to frequent hospitalizations and bad clinical outcomes. The poor growth develops due to escalated metabolic demands and relative hypophagia. These conditions are driven by the resting metabolic rate, the advanced turnover of whole body proteins, and lipid and glucose fluxes (Reid, 2013). Therefore, the assessment and counseling of nutrition-related issues that may impact the choice of screening and diagnostic approaches and preventive and therapeutic methods should involve the mentioned manifestations. Taking care of nutritional evaluation will enable physicians to monitor the effectiveness of treatment and improve patient outcomes.
The Prevalence Rates, Testing, Treatment, and Prognosis
The prevalence rates of sickle cell disease are highest in the people of Hispanic and African-American descent (Hassel, 2010). However, the exact number of individuals affected by this illness is not known. In Nigeria, the estimated number is 20-30 in every 1000 births (Adegoke et al., 2015). In Africa, 200,000 children are born every year with SCD (Ansong et al., 2013). The rates in the US that are taken from a report prepared three decades ago amount to 32,000-50,000 newborns (Hassel, 2010). The most promising approach to determining the prevalence rates is the introduction of genetic screening of newborns. Scholars remark that there may be positive changes in the progress of the disease if considerable changes are made in the nutritional choices of patients. In particular, it is noted that it is possible to decrease growth retardation using adding specific vitamins and minerals in patients nutrition.
Sickle cell disease is one of the most serious life-threatening health conditions in which timely diagnosis and effective treatment may help to save a persons life. SCD is most prevalent in Hispanic and African-American descent with thousands of newborns annually. The role of family members in making healthcare decisions is rather significant. No less important is the development of new testing options and drugs which depends on financial support from the government or philanthropists. Only when the efforts of family, society, and science are combined, is there a possibility to enhance the level of life for patients suffering from SCD. Being a single gene inheritance, genetics plays a huge role in the transmission of this disease. With several diagnostic options, the only known way to cure is via a bone marrow transplant. However, decreasing the risk of crisis involves lifestyle changes, including nutrition assessment and counseling, and proper pain management.
Ethical Considerations for Sickle Cell Disease
Besides several lifelong health issues, SCD brings about some ethical problems that are difficult to manage. Ethical issues caused by SCD are concerned with genetic counseling and prenatal diagnosis. These measures have great potential for preventing the spread of the illness. However, at the same time, they are connected with serious ethical choices and dilemmas. One of the most crucial topics for discussion about SCD ethics is the possibility of making a non-invasive prenatal diagnosis (NIPD) (Hill, Compton, Karunaratna, Lewis, & Chitty, 2014). Such diagnoses for single-gene disorders suggest more choices for people carrying SCD. However, while it seems that this option is solely beneficial, there are ethical problems that prevent couples from preferring it to others. Also, it is not always easy for doctors to propose NIPD.
The major concern of the patients is that NIPD may not be as accurate as invasive testing, which may lead to wrong decisions concerning the decisions on pregnancy termination (Hill et al., 2014). Another ethical dilemma is that the anticipated ease of having a blood test may cause a heightened pressure to do the testing because having a blood test may be considered with less thought than an invasive test (Hill et al., 2014). Therefore, patients express their preference for having both options available at healthcare facilities. Also, they say that they should be thoroughly instructed by practitioners about the benefits and limitations of each method before making their choice (Hill et al., 2014). By doing so, it will be possible to mitigate the risk of not knowing about the severe health complications of a fetus, and counseling concerning abortion will be done in proper time and manner.
The Potential of Genetics to Improve Care and Health Outcomes While Reducing Costs
There is evidence of genetic testing serving as a good basis for improving health outcomes in patients with SCD. Even though such testing may bring some undesirable ethical complications, it is still considered as a highly effective method of identifying the disease and enhancing patients health (Ross et al., 2013). Moreover, genetic testing helps to reduce costs on disease management since it is a relatively inexpensive approach. Such testing allows healthcare practitioners to examine the patients condition and choose the most appropriate treatment options. Therefore, genetics has a strong potential to improve care and health outcomes and simultaneously reduce costs. Moreover, in the case of SCD, genetic testing also gives a possibility to save peoples lives by putting diagnoses promptly.
Changes in Approaches to Care
While there are several different methods of managing SCD available, it is necessary to develop more efficient approaches to care based on evidence-based practice. A possible way of improving SCD treatment is the use of genetic testing results to create a special plan of education and treatment for each patient. Such innovation may bring several positive outcomes. First of all, an individual approach allows practitioners to note the peculiarities in the course of disease of each patient. Secondly, it will allow doctors to choose the most effective treatment and save time and costs both for patients and hospitals. Therefore, it is necessary to keep investigating the disease peculiarities and develop innovative methods of genetic testing.
Patient Education Plan on SCD
Since SCD is an inborn disease, it is necessary to teach people who have it about the severity of outcomes for their children. They should be aware of the most probable complications as well as the ways of dealing with them. The major issue to be included in the education plan is that children with this disease have a high risk of silent cerebral infarcts that are related to lowered full-scale intelligence quotient (King et al., 2014). Therefore, parents should be informed about this problem and instructed on the ways of stroke identification. Silent strokes may occur without a patients awareness. To eliminate such occurrences, it is necessary to keep the childs blood pressure under control, keep a healthy diet and weight, and sustain regular levels of blood sugar. According to research performed by Quinn et al. (2013) recently, the incidence of acute silent cerebral ischemic events was 47.3 per 100 patient-years. Thus, it is necessary to emphasize to parents the prevalence of such cases as compared to previous decades. They should always remember that the brain of a patient suffering from SCD is at constant risk of ischemia.
Parents whose children go to school should be taught about the additional possibilities available for their children. For instance, it is necessary to inform the school nurse about the childs diagnoses so that she would pay close attention to the child. Also, schoolchildren with SCD need to have easy access to school staff or the nurse in case of an emergency. Another thing that should be arranged for such children is the possibility to have a simplified program at physical activity classes. Also, parents need to arrange a possibility for their children to have more time for assignments and ask for a chance to make up for homework that a child has missed due to health issues.
With every particular case, the education plan will have some slight differences. However, all families need to be instructed on the complications of the disease as well as the possibilities the children should be given at school and in other social institutions. With a carefully selected plan of education, it becomes easier to manage the condition and eliminate the difficulties that patients face.
Conclusion
The purpose of the present case study was to investigate the peculiarities of sickle cell disease and ways of eliminating its detrimental effect. In particular, the following spheres concerned with SCD have been analyzed: FDA regulations associated with the illness, the role of financial support in scientific advances, the involvement of the family in making healthcare decisions, the impact of genetics on policy issues, considerations of practice, and patient education. What concerns the disease in medical dimension, the following aspects have been investigated: causes and origins of SCD, its prevalence and incidence, chromosomal analysis, gene mutation, laboratory testing options, and approaches to treatment. Additionally, nutritional aspects related to the disease have been researched. Finally, an education plan has been suggested for patients and their parents. This case study provides an insight into a variety of details about SCD and suggests some approaches to maintaining a high level of life. Sickle cell disease is one of the most dangerous illnesses, and it poses a serious threat to patients lives. Therefore, patients, their families, and practitioners must unite their efforts and reach the most beneficial outcomes for those suffering from this condition.
References
Adegoke, S. S., Adeodu, O. O., & Adekile, A. D. (2015). Sickle cell disease clinical phenotypes in children from South-Western, Nigeria. Nigerian Journal of Clinical Practice, 18(1), 95-101.
Al-Saqladi, A.-W. M., Cipolotti, R., Fijnvandraat, K., & Brabin, B. J. (2008). Growth and nutritional status of children with homozygous sickle cell disease.Annals of Tropical Paediatrics, 28(3), 165-189.
Ansong, D., Akoto, A. O., Ocloo, D., & Ohene-Frempong, K. (2013). Sickle cell disease: Management options and challenges in developing countries. Mediterranean Journal of Hematology and Infectious Diseases, 5(1), n.p.
Ciociola, A. A., Cohen, L. B., Kulkarni, P., & the FDA-Related Matters Committee of the American College of Gastroenterology. (2014). How drugs are developed and approved by the FDA: Current process and future directions. American Journal of Gastroenterology, 109(5), 620-623.
Hassel, K. L. (2010). Population estimates of sickle cell disease in the U.S. American Journal of Preventive Medicine, 38(4S), S512-S521.
Hill, M., Compton, C., Karunaratna, M., Lewis, C., & Chitty, L. (2014). Client views and attitudes to non-invasive prenatal diagnosis for sickle cell disease, thalassaemia and cystic fibros
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