Observational studyBMJ open2025
Changes in attitudes towards prenatal diagnosis for haemoglobinopathies: a 40-year retrospective observational study in Northern Italy.
Observational study in BMJ open, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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12 authors.
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Abstract
objectivesTo analyse demographic trends and decision-making patterns regarding prenatal diagnosis (PND) in couples at risk for hereditary haemoglobinopathies at the Thalassemia and Rare Haematological Disease Centre in Turin over a 40-year period.
designRetrospective observational study analysing demographic and clinical data from 1983 to 2023.
settingTertiary care genetic service Centre in Orbassano (TO), Northern Italy.
participantsCouples seeking genetic counselling and PND for hereditary haemoglobinopathies. Selection criteria included couples at risk of having children affected by β-thalassaemia major or Sickle Cell Disease (SCD).
main outcome measuresPrimary outcomes included acceptance rates of PND and pregnancy termination (TOP). Variables analysed included couples' age at first consultation, age at first PND, birthplace, employment status, specific haemoglobinopathy risk and number of pregnancies.
resultsThe analysis identified three main factors influencing PND and TOP decisions: nationality, type of haemoglobinopathy risk and number of previous pregnancies. Age showed no significant correlation with decision-making patterns. The impact of education level and employment status could not be definitively determined due to unavailable or unfit data.
conclusionsThe 40-year analysis of prenatal diagnosis for haemoglobinopathies in Turin shows evolving trends influenced by immigration patterns, improved medical treatments and cultural factors, leading to increased acceptance of affected pregnancies in recent years, particularly after 2015, due to better disease management and comprehensive healthcare support. This comprehensive analysis of our centre's experience provides valuable insights that can serve as a model for similar institutions worldwide in supporting couples through carrier screening and PND processes.
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