Variations in prenatal screening in a US federal healthcare system: Same coverage, different options.

The Military Health System (MHS) is a federally funded organization that provides care to active duty service members and their beneficiaries. Our objective was to determine what methods of prenatal screening are used by military treatment facilities (MTFs), assess variations between institutions, and determine how practice patterns align with national recommendations. We surveyed all MTFs offering comprehensive prenatal care (n = 49). Departments were asked about aneuploidy screening options, availability of diagnostic testing, and carrier screening. In all, 43 MTFs (88%) completed the survey. Most (39/43) patients were stratified based on risk (predominantly maternal age at delivery and history). The most commonly offered test was combined 1st/2nd trimester screening (59%). Sixty percent routinely offered diagnostic testing, though less than half routinely offered microarrays. The majority offered universal carrier screening for cystic fibrosis (98%) and complete blood count with screening for thalassemias and hemoglobinopathies (88%). At the time of data collection, only five facilities (12%) had implemented spinal muscular atrophy carrier screening. Considerable heterogeneity exists in prenatal aneuploidy testing and carrier screening within the MHS. Standardized guidelines, protocols, and laboratory support would improve processes across the system. Additional resources including genetic counseling support and provider education are needed.

Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.

BACKGROUND: Globally, about five per cent of children are born with congenital or genetic disorders. The most common autosomal recessive conditions are thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease, with higher carrier rates in specific patient populations. Identifying and counselling couples at genetic risk of the conditions before pregnancy enables them to make fully informed reproductive decisions, with some of these choices not being available if genetic counselling is only offered in an antenatal setting. This is an update of a previously published review. OBJECTIVES: To assess the effectiveness of systematic preconception genetic risk assessment to improve reproductive outcomes in women and their partners who are identified as carriers of thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease in healthcare settings when compared to usual care. SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Trials Registers. In addition, we searched for all relevant trials from 1970 (or the date at which the database was first available if after 1970) to date using electronic databases (MEDLINE, Embase, CINAHL, PsycINFO), clinical trial databases (National Institutes of Health, Clinical Trials Search portal of the World Health Organization, metaRegister of controlled clinical trials), and hand searching of key journals and conference abstract books from 1998 to date (European Journal of Human Genetics, Genetics in Medicine, Journal of Community Genetics). We also searched the reference lists of relevant articles, reviews and guidelines and also contacted subject experts in the field to request any unpublished or other published trials.Date of latest search of the registers: 20 June 2017.Date of latest search of all other sources: 16 November 2017. SELECTION CRITERIA: Any randomised or quasi-randomised controlled trials (published or unpublished) comparing reproductive outcomes of systematic preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease when compared to usual care. DATA COLLECTION AND ANALYSIS: We identified 25 papers, describing 16 unique trials which were potentially eligible for inclusion in the review. However, after assessment, no randomised controlled trials of preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease were found. MAIN RESULTS: No randomised controlled trials of preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease were included. One ongoing trial has been identified which may potentially eligible for inclusion once completed. AUTHORS' CONCLUSIONS: As no randomised controlled trials of preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis, or Tay-Sachs disease were found for inclusion in this review, the research evidence for current policy recommendations is limited to non-randomised studies.Information from well-designed, adequately powered, randomised trials is desirable in order to make more robust recommendations for practice. However, such trials must also consider the legal, ethical, and cultural barriers to implementation of preconception genetic risk assessment.

O cuidado de enfermagem à pessoa com doença falciforme em unidade de emergência / El cuidado de enfermería a la persona con enfermedad falciforme en unidad de urgencias / Nursing care to people suffering with sickle cell disease in emergency unit

RESUMO Este estudo objetivou identificar como a equipe de enfermagem percebe o cuidado à pessoa com doença falciforme na unidade de emergência. Trata-se de um estudo qualitativo e descritivo, desenvolvido em um hospital especializado no Rio de Janeiro com 12 membros da equipe de enfermagem do referido setor. A produção de dados ocorreu entre abril e setembro de 2014, mediante entrevista semiestruturada. Os dados foram submetidos à análise de conteúdo, emergindo como categoria: A equipe de enfermagem no cuidado à pessoa com doença falciforme na emergência. Ao cuidar da pessoa com doença falciforme em unidade de emergência, a equipe de enfermagem enfrenta algumas limitações, tais como: o manejo da dor, o nível de conhecimento da equipe sobre a doença, a organização e a estrutura do serviço diante das demandas de cuidado. Para cuidar dessas pessoas, os membros da equipe de enfermagem precisam estar preparados para saber avaliá-las considerando suas necessidades e suas trajetórias de vida com a doença, que implica em inúmeras internações ao longo da vida.

RESUMEN Este estudio tuvo el objetivo de identificar cómo el equipo de enfermería percibe el cuidado a la persona con enfermedad falciforme en la unidad de urgencias. Se trata de un estudio cualitativo y descriptivo, desarrollado en un hospital especializado en Rio de Janeiro-Brasil con 12 miembros del equipo de enfermería del referido sector. La producción de datos ocurrió entre abril y septiembre de 2014, mediante entrevista semiestructurada. Los datos fueron sometidos al análisis de contenido, surgiendo como categoría: El equipo de enfermería en el cuidado a la persona con enfermedad falciforme en urgencias. Al cuidar a la persona con enfermedad falciforme en unidad de urgencias, el equipo de enfermería enfrenta algunas limitaciones, tales como: el manejo del dolor, el nivel de conocimiento del equipo sobre la enfermedad, la organización y la estructura del servicio ante las demandas de cuidado. Para cuidar a estas personas, los miembros del equipe de enfermería necesitan estar preparados para saber evaluarlas, considerando sus necesidades y sus trayectorias de vida con la enfermedad, que implica en innúmeras internaciones a lo largo de la vida.

ABSTRACT This study aimed to identify how the nursing team perceives the care to the person with sickle cell disease at the emergency unit. This is a qualitative and descriptive study, developed in a specialized hospital in Rio de Janeiro with 12 members of the said sector nursing team. The Data production took place between April and September 2014 through semi-structured interview. Data were submitted to content analysis and the following category arised: The nursing staff in the care for the person with sickle cell disease in the emergency room. By taking care of the person with sickle cell disease in the emergency department, the nursing team faces some limitations, such as: pain management, the team's level of knowledge on the disease, the organization and structure of the service on the care demands. To take care of these people, members of the nursing staff must be prepared to learn to evaluate them considering their needs and their life histories with the disease, which involves numerous hospitalizations lifelong.

Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.

BACKGROUND: Globally, about five per cent of children are born with congenital or genetic disorders. The most common autosomal recessive conditions are thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease, with higher carrier rates in specific patient populations. Identifying and counselling couples at genetic risk of the conditions before pregnancy enables them to make fully informed reproductive decisions, with some of these choices not being available if genetic counselling is only offered in an antenatal setting. OBJECTIVES: To assess the effectiveness of systematic preconception genetic risk assessment to improve reproductive outcomes in women and their partners who are identified as carriers of thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease in healthcare settings when compared to usual care. SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Trials Registers. In addition, we searched for all relevant trials from 1970 (or the date at which the database was first available if after 1970) to date using electronic databases (MEDLINE, Embase, CINAHL, PsycINFO), clinical trial databases (National Institutes of Health, Clinical Trials Search portal of the World Health Organization, metaRegister of controlled clinical trials), and hand searching of key journals and conference abstract books from 1998 to date (European Journal of Human Genetics, Genetics in Medicine, Journal of Community Genetics). We also searched the reference lists of relevant articles, reviews and guidelines and also contacted subject experts in the field to request any unpublished or other published trials.Date of latest search of the registers: 25 June 2015.Date of latest search of all other sources: 10 December 2014. SELECTION CRITERIA: Any randomised or quasi-randomised control trials (published or unpublished) comparing reproductive outcomes of systematic preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease when compared to usual care. DATA COLLECTION AND ANALYSIS: We identified 19 papers, describing 13 unique trials which were potentially eligible for inclusion in the review. However, after assessment, no randomised controlled trials of preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease were found. MAIN RESULTS: No randomised controlled trials of preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease were found. AUTHORS' CONCLUSIONS: As no randomised controlled trials of preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis, or Tay-Sachs disease were found for inclusion in this review, the research evidence for current policy recommendations is limited to non-randomised studies.Information from well-designed, adequately powered, randomised trials is desirable in order to make more robust recommendations for practice. However, such trials must also consider the legal, ethical, and cultural barriers to implementation of preconception genetic risk assessment.

Perspectives in Genetics and Sickle Cell Disease Prevention in Africa: Beyond the Preliminary Data from Cameroon.

Management of sickle cell disease (SCD) in Africa needs to be accompanied by various preventive strategies, including early detection via prenatal genetic diagnosis (PND). Contrary to Cameroonian doctors who considered termination of an affected pregnancy (TAP) for SCD in 36.1%, the majority of parents (62.5%) with affected children accepted TAP in principle. In practice, most women opted for TAP (90%), justified by a huge psycho-social burden. The ethical and legal challenges of PND prompted the need to explore the use of genetics for secondary prevention of SCD. In 610 Cameroonian SCD patients, the genomic variations in two principal foetal haemoglobin-promoting loci were significantly associated with foetal haemoglobin levels. In addition, the co-inheritance of a 3.7-kb α-globin gene deletion and SCD was associated with a late disease onset and possibly improved survival: there was a much higher allele frequency of the 3.7-kb α-globin gene deletion in SCD patients (∼ 40%) than in haemoglobin AA controls (∼ 10%). The data indicate the urgent need to develop and implement policy actions in sub-Saharan Africa on at least four levels: (1) the implementation of SCD screening practices and early neonatal follow-up; (2) the development and incorporating of socio-economic support to alleviate the burden of SCD on affected families; (3) the exploration of the appropriateness of the medical abortion laws for SCD, and (4) the development of national plans for genetic medicine, including research on genomic variants that affect the phenotypes of SCD, in order to potentially use them for anticipatory guidance.

Preventing thalassemia in Lebanon: successes and challenges in a developing country.

Thalassemia continues to be a major health burden. The chronicity of the disease and the high cost of life-long treatment make prevention strategies crucial in the management of this disease. In this article, we revisit different successful prevention strategies, and underline the Lebanese model. The Chronic Care Center (CCC), Beirut, is the only specialized center in Lebanon for the treatment and prevention of thalassemia. The current number of patients registered up to August 2013 was 724, representing cases from all over Lebanon. In 1994, the center launched a national prevention program following the World Health Organization (WHO) recommendations. The major activities of the program include awareness campaigns, screening for thalassemia carriers in the general population and high risk groups, registry of new cases and follow-up on the mandatory premarital law (established at the same time). Screening programs showed a carrier rate of around 2.3% in the general population, and 4.0-41.0% in high risk groups. The major pitfall in the law is that only persons with a mean corpuscular volume (MCV) of >70.0 fL are asked to perform further hemoglobin (Hb) testing. A significant decrease in the number of new cases of thalassemia patients in Lebanon reflects the efforts deployed in the prevention of the disease. However, some limitations are faced in reaching a complete eradication of the disease, mainly due to the fact that abortion is illegal and due to pitfalls and incorrect implementation of the premarital law.

The burden and consequences of inherited blood disorders among young children in western Kenya.

Although inherited blood disorders are common among children in many parts of Africa, limited data are available about their prevalence or contribution to childhood anaemia. We conducted a cross-sectional survey of 858 children aged 6-35 months who were randomly selected from 60 villages in western Kenya. Haemoglobin (Hb), ferritin, malaria, C-reactive protein (CRP) and retinol binding protein (RBP) were measured from capillary blood. Using polymerase chain reaction (PCR), Hb type, -3.7 kb alpha-globin chain deletion, glucose-6-phosphate dehydrogenase (G6PD) genotype and haptoglobin (Hp) genotype were determined. More than 2 out of 3 children had at least one measured blood disorder. Sickle cell trait (HbAS) and disease (HbSS) were found in 17.1% and 1.6% of children, respectively; 38.5% were heterozygotes and 9.6% were homozygotes for α(+) -thalassaemia. The Hp 2-2 genotype was found in 20.4% of children, whereas 8.2% of males and 6.8% of children overall had G6PD deficiency. There were no significant differences in the distribution of malaria by the measured blood disorders, except among males with G6PD deficiency who had a lower prevalence of clinical malaria than males of normal G6PD genotype (P = 0.005). After excluding children with malaria parasitaemia, inflammation (CRP > 5 mg L(-1) ), iron deficiency (ferritin < 12 µg L(-1) ) or vitamin A deficiency (RBP < 0.7 µg L(-1) ), the prevalence of anaemia among those without α(+) -thalassaemia (43.0%) remained significantly lower than that among children who were either heterozygotes (53.5%) or homozygotes (67.7%, P = 0.03). Inherited blood disorders are common among pre-school children in western Kenya and are important contributors to anaemia.

Genotoxicity assessment in patients with thalassemia minor.

Thalassemia is an inherited blood disorder that affects both genders and results in reduced synthesis of hemoglobin, and thus causing anemia. Previous studies have shown that the severe form of this disease, thalassemia major, is associated with genotoxicity. This includes increases in the level of sister chromatid exchange (SCEs), chromosomal aberrations (CAs) and micronuclei. In this study, we assessed genotoxicity in the lymphocytes of thalassemia minor subjects using sister chromatid exchange (SCE) and chromosomal aberration (CA) assays. In addition, we investigated the level of oxidative DNA damage by measuring 8-hydroxy-2'-deoxyguanosine (8OHdG) biomarker in urine samples. Eighteen thalassemia minor subjects and eighteen matched normal healthy controls were volunteered in the study. In addition, seven thalassemia major patients were recruited as positive controls. The results showed increases in the frequency of SCEs (P<0.05) in thalassemia minor compared to healthy controls. However, no difference in CAs frequency was detected between thalassemia minor and controls (P>0.05). Both SECs and CAs in thalassemia major patients were significantly higher compared to other groups (P<0.05). Regarding urine 8OHdG levels, the result showed a slight increase in thalassemia minor compared to healthy controls but the difference was not significant (P>0.05). In conclusion, our results showed that thalassemia minor is associated with genotoxicity to blood lymphocytes as indicated by SCEs assay.

Screening immediate family members for carrier identification and counseling: a cost-effective and practical approach.

OBJECTIVE: To screen immediate family members of thalassaemia patients for carrier identification and counselling. METHODS: The cross-sectional study was conducted at an urban thalassaemia treatment and prevention centre in Karachi, Pakistan, from January to December 2008, and involved 188 siblings of 100 thalassaemia patients. Complete blood count, including haemogram, was performed in the siblings. Samples with MCV < 75fl and MCH < 25% were subjected to haemoglobin-electrophoresis. Haemoglobin A2 of 3.5% to 7.0% was labelled as beta-thalassaemia minor. Those with haemoglobin A2 of 3.0-3.4% but red blood cell count of > 4.5 x 1012/L were reported as equivocal and were screened for iron deficiency anaemia and a repeat haemoglobin A2 estimation was done on high performance liquid chromatography. Equivocal results of the chromoatography were screened for thalassaemia mutation. Mean values along with standard deviation were worked out for relevant variables. RESULT: Of the 188 subjects, there were 124 (66%) males and 64 (34%) females. The mean age was 16.5 +/- 6.3 years (range: 3 months to 30 years) and the mean family size was 1.88 +/- 3.8 (range: 1-12) children per family. There were 51 (51%) first-cousin marriages in this group. Of the siblings, 65 (34.5%) were identified as normal, while 117 (62.2%) were reported as beta-thalassaemia carriers. Six asymptomatic siblings were reported as consistent with beta-thalassaemia major. CONCLUSION: There were 62.2% siblings identified as beta thalassaemia carriers in the study as opposed to 5-8% carriers in the general population. We also identified six asymptomatic and unidentified cases of beta-thalassaemia intermedia in these families. Therefore, in our context where both resources and budgets are limited, it is practical to focus on siblings of identified thalasaemia patients.

Thalassemia and hemoglobinopathies in Southeast Asian newborns: diagnostic assessment using capillary electrophoresis system.

BACKGROUND: We have investigated the Capillarys 2 Hemoglobin testing system to assist in presumptive diagnosis of thalassemia and hemoglobinopathies commonly found in Southeast Asia. METHODS: Study was conducted on 226 newborns. Hematological parameters were recorded and Hb profiles were examined on the Capillarys 2 Hemoglobin analyzer (SEBIA). DNA analyses were used to establish the final diagnoses. RESULTS: Among 226 newborns examined, 122 had thalassemias with 17 different genotypes. The capillary electrophoresis system could provide useful data for presumptive diagnoses of cases, especially those with Hb E and α-thalassemia. Hb E was found to be 2.6-6.2% in heterozygote whereas Hb Bart's were clearly observed in cases with compound heterozygous or homozygous α(+)-thalassemia and heterozygous α(0)-thalassemia. Hb H disease and other forms of α-thalassemia could be differentiated based on the presence of Hb Bart's and its percentage. CONCLUSION: The capillary electrophoresis system is applicable to newborn screening for common forms of thalassemia in Southeast Asia.

Antenatal screening for haemoglobinopathies in primary care: a cohort study and cluster randomised trial to inform a simulation model. The Screening for Haemoglobinopathies in First Trimester (SHIFT) trial.

OBJECTIVES: To assess the effectiveness, cost-effectiveness, acceptability and feasibility of offering universal antenatal sickle cell and thalassaemia (SCT) screening in primary care when pregnancy is first confirmed and to model the cost-effectiveness of early screening in primary care versus standard care. DESIGN: A population-based cohort study, cluster randomised trial and refinement of a published decision model. SETTING: Twenty-five general practices from two UK primary care trusts (PCTs) in two inner city boroughs with a high proportion of residents from minority ethnic groups. PARTICIPANTS: Practices were considered eligible if they agreed to be randomised and they were able to provide anonymous data on all eligible pregnant women. Participants were at least 18 years old and consented to take part in the evaluation. INTERVENTIONS: Practices were allocated to intervention, using minimisation and stratifying for PCT and number of partners at the practice, as follows: screening in primary care with parallel father testing (test offered to mother and father simultaneously; n = 8 clusters, 1010 participants); screening in primary care with sequential father testing (test offered to father only if mother identified as carrier; n = 9 clusters, 792 participants); and screening in secondary care with sequential father testing (standard care; n = 8 clusters, 619 participants). MAIN OUTCOME MEASURES: Data on gestational age at pregnancy confirmation and screening date were collected from trial practices for 6 months before randomisation in the cohort phase. The primary outcome measure was timing of SCT screening, measured as the proportion of women screened before 70 days' (10 weeks') gestation. Other outcomes included: offer of screening, rates of informed choice and proportion of women who knew the carrier status of their baby's father by 77 days (11 weeks). RESULTS: For 1441 eligible women in the cohort phase, the median [interquartile range (IQR)] gestational age at pregnancy confirmation was 7.6 weeks (6.0 to 10.7 weeks) and 74% presented in primary care before 10 weeks. The median gestational age at screening was 15.3 weeks (IQR 12.6 to 18.0 weeks). Only 4.4% were screened before 10 weeks. The median delay between pregnancy confirmation and screening was 6.9 weeks (4.7 to 9.3 weeks). In the intervention phase, 1708 pregnancies from 25 practices were assessed for the primary outcome measure. Completed questionnaires were obtained from 464 women who met eligibility criteria for the main analysis. The proportion of women screened by 10 weeks (70 days) was 9/441 (2%) in standard care, compared with 161/677 (24%) in primary care with parallel testing, and 167/590 (28%) in primary care with sequential testing. The proportion of women offered screening by 10 weeks (70 days) was 3/90 (3%) in standard care (note offer of test ascertained for questionnaire respondents only), compared with 321/677 (47%) in primary care with parallel testing, and 281/590 (48%) in primary care with sequential testing. The proportion of women screened by 26 weeks (182 days) was similar across the three groups: 324/441 (73%) in standard care, 571/677 (84%, 0.09) in primary care with parallel testing, and 481/590 (82%, 0.148) in primary care with sequential testing. The screening uptake of fathers was 51/677 (8%) in primary care with parallel testing, and 16/590 (3%) in primary care with sequential testing, and 13/441 (3%) in standard care. The predicted average total cost per pregnancy of offering antenatal SCT screening was estimated to be 13 pounds in standard care, 18.50 pounds in primary care with parallel testing, and 16.40 pounds in primary care with sequential testing. The incremental cost-effectiveness ratio (ICER) was 23 pounds in primary care with parallel testing and 12 pounds in primary care with sequential testing when compared with standard care. Women offered testing in primary care were as likely to make an informed choice as those offered screening by midwives later in pregnancy, but less than one-third of women overall made an informed choice about screening. CONCLUSIONS: Offering antenatal SCT screening as part of pregnancy-confirmation consultations significantly increased the proportion of women screened before 10 weeks (70 days), from 2% in standard care to between 16% and 27% in primary care, but additional resources may be required to implement this. There was no evidence to support offering fathers screening at the same time as women. TRIAL REGISTRATION: Current Controlled Trials ISRCTN00677850.

Choosing offspring: prenatal genetic testing for thalassaemia and the production of a 'saviour sibling' in China.

This paper focuses on the pre-natal genetic testing and reproductive decision-making around thalassaemia in China. Findings are based on fieldwork conducted in hospitals and research institutions, interviews with families with thalassaemia-affected children, interviews with geneticists and genetic researchers and a literature review conducted between September and November 2007. The paper aims to provide insight into the ways in which those who carry thalassaemia decide to have a test for the condition and the choices available to prospective parents. The paper also analyses factors affecting reproductive choices and the decision to produce a 'saviour sibling', including financial implications, state family planning policy, images and information conveyed through the media and propaganda, advice and counselling from doctors, psychological pressure from the community and social discrimination. The paper concludes with a discussion on the issues involved in the creation of saviour siblings, some of which are particular to China.

Thalassemia in Iran: epidemiology, prevention, and management.

PURPOSE: To determine the prevalence and geographic distribution of thalassemia and to evaluate the success of the thalassemia prevention and treatment programs in Iran. METHODS: Data were obtained from the National Thalassemia Registry of Iran, Iranian Blood Transfusion Organization, genetic laboratories involved in prenatal diagnosis, related pharmaceutical companies, and centers performing bone marrow transplantation for thalassemic patients. RESULTS: A total of 13,879 living patients have been registered, mostly from the northern and southern parts of Iran with the median age of 15 years. Twenty-three percent of patients were older than 20 years. The number of newly diagnosed cases has been decreased considerably after the start of the prevention program. Since the introduction of prenatal diagnosis, 2819 couples (2549 fetuses) have been tested, with only 6 false results. Elective abortion was not performed in 10 affected fetuses. Most common mutations detected were IVS II-1 and IVS I-5. In 2003, approximately 25% of the national blood products and 6 million vials of desferal were used for thalassemic patients. Overall, 340 patients have received allogeneic bone marrow transplantation, of those 46 patients deceased. Bloodborne infections have also been decreased significantly owing to the national screening of blood products for bloodborne viral infections. DISCUSSION: Owing to the national prevention program and provided special care, the age distribution of thalassemic patients in Iran is getting adapted to a full prevention and treatment program and life expectancy of these patients has been increased considerably. This shift in the age distribution of thalassemia, a traditionally considered pediatric disease, will face us with new challenges and the health care system should be prepared for this new face of thalassemia.

Development of a measure of informed choice suitable for use in low literacy populations.

OBJECTIVE: To assess the reliability and validity of a simplified questionnaire-based measure of informed choice in populations with low literacy. The measure comprises (a) knowledge about the test and (b) attitudes towards undergoing the test. Responses to (a) and (b) together with information on test uptake, are used to classify choices as informed or uninformed. METHODS: A cross-sectional study of 79 pregnant women (46 women with higher, and 33 with lower education levels) completed a simplified questionnaire, a standardised questionnaire and a semi-structured interview about antenatal sickle cell and thalassaemia (SCT) screening. The measures used were: (a) informed choice, based on knowledge about the test, attitudes towards undergoing the test, and uptake of the test and (b) ease of completion measures. RESULTS: The simplified measures of knowledge and attitudes were able to distinguish between women classified according to interview responses as having good or poor knowledge (knowledge scores 6.8 versus 3.2, p<0.001), and positive or negative attitudes towards undergoing the test (attitude scores 20.6 versus 16.2, p=0.023). There was no difference in rates of informed choice derived from the simplified or standardised measures (54% versus 51%, 95% CI difference -11 to 19). Women with lower levels of education found the simplified questionnaire easier to complete than the standardised version (11.0 versus 9.6, p=0.009). Those with higher levels of education found no difference in ease of completion between the two versions of the questionnaire (11.8 versus 11.6, p=0.54). CONCLUSION: A simplified questionnaire-based measure of informed choice in antenatal SCT screening is as reliable and valid as a more complex standardised version and for those with less education, easier to complete. PRACTICE IMPLICATIONS: The simplified questionnaire-based measure of informed choice is suitable for use in populations with low and high levels of education.

Monte Carlo simulation on the effect of different approaches to thalassaemia on gene frequency.

We used computer simulation to determine variation in gene, heterozygous and homozygous frequencies induced by 4 different approaches to thalassaemia. These were: supportive therapy only; treat homozygous patients with a hypothetical modality phenotypically only; abort all homozygous fetuses; and prevent marriage between gene carriers. Gene frequency becomes constant with the second or the fourth strategy, and falls over time with the first or the third strategy. Heterozygous frequency varies in parallel with gene frequency. Using the first strategy, homozygous frequency falls over time; with the second strategy it becomes constant; and with the third and fourth strategies it falls to zero after the first generation. No matter which strategy is used, the population gene frequency, in the worst case, will remain constant over time.

Incidence of haemoglobinopathies detected through neonatal screening in the United Arab Emirates.

In January 2002, a pilot programme of neonatal screening for sickle cell disease was launched in the United Arab Emirates (UAE) in 3 districts of Abu Dhabi emirate. This paper reports the incidence of sickle cell diseases, other haemoglobinopathies and haemoglobinopathy carriers over a 12-month period using high performance liquid chromatography as a primary screening method. The overall incidence of sickle cell disease among 22 200 screened neonates was 0.04% (0.07% for UAE citizens and 0.02% for non-UAE citizens). The incidence of sickle cell trait was 1.1% overall (1.5% for UAE citizens and 0.8% for non-UAE citizens). Universal neonatal screening for sickle cell haemoglobin at the national level should be considered.