Population screening for hemoglobinopathies

HW Goonasekera, CS Paththinige… - Annual review of …, 2018 - annualreviews.org
Hemoglobinopathies are the most common single-gene disorders in the world. Their
prevalence is predicted to increase in the future, and low-income hemoglobinopathy …

Patient reported outcomes and patient empowerment in clinical genetics services

M McAllister, A Dearing - Clinical genetics, 2015 - Wiley Online Library
Evaluation of clinical genetics services (CGS), including genetic counseling and genetic
testing, has been problematic. Patient mortality and morbidity are unlikely to be directly …

Haemoglobinopathy diagnosis: algorithms, lessons and pitfalls

BJ Bain - Blood reviews, 2011 - Elsevier
Diagnosis of haemoglobinopathies, including thalassaemias, can result from either a clinical
suspicion of a disorder of globin chain synthesis or from follow-up of an abnormality …

Specific antenatal interventions for Black, Asian and Minority Ethnic (BAME) pregnant women at high risk of poor birth outcomes in the United Kingdom: a scoping …

R Garcia, N Ali, C Papadopoulos… - BMC pregnancy and …, 2015 - Springer
Background Disparity exists in maternal and infant birth outcomes of Black and Minority
Ethnic (BAME) women giving birth in the United Kingdom (UK) compared to the majority …

Screening for iron deficiency and iron deficiency anaemia in pregnancy: a structured review and gap analysis against UK national screening criteria

R Rukuni, M Knight, MF Murphy, D Roberts… - BMC pregnancy and …, 2015 - Springer
Background Iron deficiency anaemia is a common problem in pregnancy despite national
recommendations and guidelines for treatment. The aim of this study was to appraise the …

Men's experiences of antenatal screening: a metasynthesis of the qualitative research

S Dheensa, A Metcalfe, RA Williams - International journal of nursing …, 2013 - Elsevier
OBJECTIVES: First to develop a consensus on what is known about men's experiences and
involvement in antenatal screening, second to understand whether screening is an …

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

E Richardson, A McEwen, T Newton-John, A Crook… - Genetics in …, 2022 - Elsevier
Purpose Current practice recommendations support the widespread implementation of
reproductive genetic carrier screening (RGCS). These consensus-based recommendations …

Measuring informed choice in population-based reproductive genetic screening: a systematic review

AG Ames, SA Metcalfe, AD Archibald… - European Journal of …, 2015 - nature.com
Genetic screening and health-care guidelines recommend that programmes should facilitate
informed choice. It is therefore important that accurate measures of informed choice are …

Incorporating patient perspectives in the development of a core outcome set for reproductive genetic carrier screening: a sequential systematic review

E Richardson, A McEwen, T Newton-John… - European Journal of …, 2022 - nature.com
There is currently no consensus on the key outcomes of reproductive genetic carrier
screening (RGCS). This has led to a large amount of variability in approaches to research …

Statistical analysis of publicly funded cluster randomised controlled trials: a review of the National Institute for Health Research Journals Library

BC Offorha, SJ Walters, RM Jacques - Trials, 2022 - Springer
Background In cluster randomised controlled trials (cRCTs), groups of individuals (rather
than individuals) are randomised to minimise the risk of contamination and/or efficiently use …