Efficacy of the National Thalassaemia and Sickle Cell Disease Prevention Programme in Northern Greece: 15-Year Experience, Practice and Policy Gaps for Natives and Migrants

Theodoridou, Stamatia; Πράπας, Νικόλαος; Balassopoulou, Angeliki; Boutou, Effrossyni; Vyzantiadis, Timoleon‐Achilleas; Adamidou, Despoina; Delaki, Evangelia-Eleni; Yfanti, Eleni; Economou, Marina; Teli, Αikaterini; Karakasidou, O.; Skatharoudi, Evangelia; Theodoridis, Theodoros; Voskaridou, Ersi

doi:10.1080/03630269.2018.1528986

Cited by 20 publications

(19 citation statements)

References 21 publications

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“…[53][54][55][56]80,89 Time points of measurement were also variable. A single time point was assessed by most studies (n = 41, 85%) and included audit data from databases between 1-30 years since screening (n = 34, 83%), 29,30,[32][33][34][35][36]38,40,42,[47][48][49]52,57,60,61,[63][64][65][67][68][69]73,74,78,81,[83][84][85][86][87][88]90,91,93 patient-reported outcomes at pre-test counselling after the decision to accept or decline was made (n = 3, 7%), 75,76,82 after maternal results but before partner results (n = 1, 2%), 39 and after results between 1-2 years since screening (n = 3, 7%). 46,51,…”

Section: Measurement Methodsmentioning

confidence: 99%

“…The outcome domain of 'timeliness' was reported in 20% of studies. 33,44,45,49,60,68,71,73,86,93 We defined timeliness as the provision of RGCS and follow-up testing, typically in the prenatal setting, in a manner that allowed sufficient time for deliberation and decision-making. Eleven different outcomes were reported pertaining to timeliness; gestational age when offered RGCS, gestational age at uptake, the time between pregnancy confirmation and RGCS, turnaround time for results, time between maternal results and partner testing, gestational age at the time of partner results, gestational age at the time of prenatal diagnosis, proportion screened by 10-, 12-, 16-and 26-weeks' gestation.…”

Section: Outcome Domains and Heterogeneitymentioning

confidence: 99%

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Systematic review of outcomes in studies of reproductive genetic carrier screening: Towards development of a core outcome set

Richardson

McEwen

Newton‐John

et al. 2022

Genetics in Medicine

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Current practice recommendations support the widespread implementation of reproductive genetic carrier screening (RGCS). These consensus-based recommendations highlight a research gap, with findings from current studies being insufficient to meet the standard required for more rigorous evidence-based recommendations. This systematic review assessed methodological aspects of studies on RGCS to inform the need for a core outcome set. Methods: We conducted a systematic search to identify peer-reviewed published studies offering population-based RGCS. Study designs, outcomes, and measurement methods were extracted. A narrative synthesis was conducting using an existing outcome taxonomy and criteria used in the evaluation of genetic screening programs as frameworks. Results: Sixty-five publications were included. We extracted 120 outcomes representing 24 outcome domains. Heterogeneity in outcome selection, measurement methods and time points of assessment was extensive. Quality appraisal raised concerns for bias. We found that reported outcomes had limited applicability to criteria used to evaluate genetic screening programs. Conclusion: Despite a large body of literature, diverse approaches to research have limited the conclusions that can be cumulatively drawn from this body of evidence. Consensus regarding meaningful outcomes for evaluation of RGCS would be a valuable first step in working towards evidence-based practice recommendations, supporting the development of a core outcome set.

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Section: Measurement Methodsmentioning

confidence: 99%

Section: Outcome Domains and Heterogeneitymentioning

confidence: 99%

Systematic review of outcomes in studies of reproductive genetic carrier screening: Towards development of a core outcome set

Richardson

McEwen

Newton‐John

et al. 2022

Genetics in Medicine

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“…Most programmes offer screening to individuals on a voluntary basis; mostly supported with counselling services and reasonably easy access to prenatal diagnosis and medical termination of pregnancy, if requested (Cousens et al , ). Universal antenatal thalassaemia screening programmes were established in Greece and Cyprus as early as 1973 (Angastiniotis & Hadjiminas, ; Theodoridou et al , ). Many other countries with a high prevalence of thalassaemia have gradually caught up.…”

Section: Global Prevalence Of Antenatal or Premarital Screening For Hmentioning

confidence: 99%

“…Societal acceptance of haemoglobinopathy as a significant disorder is also paramount to the development of successful screening programmes. Public awareness campaigns have been used successfully in Greece and Cyprus (Angastiniotis & Hadjiminas, ; Theodoridou et al , ) and also in the case of the Latium region of Central Italy, where school‐age screening and awareness has successfully reduced the incidence of thalassaemia in a low‐prevalence region with a large geographical coverage (Amato et al , ). Increased public awareness has led to the successful uptake of many programmes even where screening is not mandatory (Canatan et al , ).…”

Section: Challenges and Pitfalls Of Antenatal Haemoglobinopathy Screementioning

confidence: 99%

Antenatal screening for haemoglobinopathies: current status, barriers and ethics

Chakravorty

Dick

2019

Br J Haematol

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Sickle cell disease (SCD) and thalassaemia are genetic disorders that are caused by errors in the genes for haemoglobin and are some of the most common significant genetic disorders in the world, resulting in significant morbidity and mortality. Great disparities exist in the outcome of these conditions between resource-rich and resource-poor nations. Antenatal screening for these disorders aims to provide couples with information about their reproductive risk and enable them to make informed reproductive choices; ultimately reducing the likelihood of children being born with these conditions. This review provides an overview of the current status of antenatal, pre-marital and population screening of SCD and thalassaemia in countries with both high-and low prevalence of these conditions, methods of screening in use, and discusses some of the pitfalls, ethical issues and controversies surrounding antenatal screening. It also discusses outcomes of some screening programmes and recognises the need for the establishment of antenatal screening in areas where their prevalence is highest; namely sub-Saharan Africa and India.

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“…Thailand is one of several countries with a successful national thalassemia prevention and control program [ 11 – 14 ] and has observed a decreased incidence of births affected by hydrops fetalis and severe β-thalassemia in some regions [ 15 – 17 ]. Programs typically employ a combination of widespread public education and awareness efforts, carrier or preconception screening, genetic counseling, prenatal screening (PNS) and diagnosis (PND), and preimplantation diagnosis [ 11 ].…”

Section: Introductionmentioning

confidence: 99%

Identification of optimal thalassemia screening strategies for migrant populations in Thailand using a qualitative approach

Foe

Tanongsaksakul³

et al. 2021

BMC Public Health

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Background Thalassemia is a common inherited hemoglobin disorder in Southeast Asia. Severe thalassemia can lead to significant morbidity for patients and economic strain for under-resourced health systems. Thailand’s thalassemia prevention and control program has successfully utilized prenatal screening and diagnosis to reduce the incidence of severe thalassemia in Thai populations, but migrant populations are excluded despite having high thalassemia prevalence. We sought to identify key barriers to and facilitators of thalassemia screening and to develop tailored recommendations for providing migrants with access to thalassemia prevention and control. Methods We conducted 28 in-depth interviews and 4 focus group discussions (FGDs) in Chonburi, Thailand with Myanmar and Cambodian migrants, Thai healthcare providers, Thai parents of children affected by thalassemia, and migrant agents. Results Participant narratives revealed that migrants’ lack of knowledge about the prevalence, manifestations, severity, and inherited nature of thalassemia led to misconceptions, fear, or indifference toward thalassemia and screening. Negative perceptions of pregnancy termination were based in religious beliefs but compounded by other sociocultural factors, presenting a key obstacle to migrant uptake of prenatal screening. Additionally, structural barriers included legal status, competing work demands, lack of health insurance, and language barriers. Participants recommended delivering public thalassemia education in migrants’ native languages, implementing carrier screening, and offering thalassemia screening in convenient settings. Conclusions An effective thalassemia prevention and control program should offer migrants targeted thalassemia education and outreach, universal coverage for thalassemia screening and prenatal care, and options for carrier screening, providing a comprehensive strategy for reducing the incidence of severe thalassemia in Thailand and establishing an inclusive model for regional thalassemia prevention and control.

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Efficacy of the National Thalassaemia and Sickle Cell Disease Prevention Programme in Northern Greece: 15-Year Experience, Practice and Policy Gaps for Natives and Migrants

Cited by 20 publications

References 21 publications

Systematic review of outcomes in studies of reproductive genetic carrier screening: Towards development of a core outcome set

Systematic review of outcomes in studies of reproductive genetic carrier screening: Towards development of a core outcome set

Antenatal screening for haemoglobinopathies: current status, barriers and ethics

Identification of optimal thalassemia screening strategies for migrant populations in Thailand using a qualitative approach

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