{
  "abstract": "Objectives To 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.Design Retrospective observational study analysing demographic and clinical data from 1983 to 2023.Setting Tertiary care genetic service Centre in Orbassano (TO), Northern Italy.Participants Couples 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 measures Primary 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.Results The 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.Conclusions The 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.",
  "authors": [
    {
      "affiliations": [
        "Thalassemia Centre, San Luigi Gonzaga University Hospital, Orbassano, Piedmont, Italy"
      ],
      "name": "Vincenzo Voi"
    },
    {
      "affiliations": [
        "Thalassemia Centre, San Luigi Gonzaga University Hospital, Orbassano, Piedmont, Italy"
      ],
      "name": "Noemi Giordano"
    },
    {
      "affiliations": [
        "University of Turin, Turin, Piedmont, Italy"
      ],
      "name": "Veronica Sciannameo"
    },
    {
      "affiliations": [
        "Obstetrics and Gynaecological Ultrasound and Prenatal Diagnosis Centre, Sant’Anna Obstetric and Gynecological Hospital, Turin, Piedmont, Italy"
      ],
      "name": "Andrea Sciarrone"
    },
    {
      "affiliations": [
        "Laboratory of Genetics, Department of Clinical Pathology, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Turin, Piedmont, Italy"
      ],
      "name": "Luca Sbaiz"
    },
    {
      "affiliations": [
        "Laboratory of Genetics, Department of Clinical Pathology, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Turin, Piedmont, Italy"
      ],
      "name": "Marco Barberis"
    },
    {
      "affiliations": [
        "Medical Genetics Laboratory, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy"
      ],
      "name": "Cristina Curcio"
    },
    {
      "affiliations": [
        "Medical Genetics Laboratory, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy"
      ],
      "name": "Milena Agata Irrera"
    },
    {
      "affiliations": [
        "University of Turin Department of Clinical and Biological Sciences, Orbassano, Piedmont, Italy"
      ],
      "name": "Antonella Roetto"
    },
    {
      "affiliations": [
        "Thalassemia Centre, San Luigi Gonzaga University Hospital, Orbassano, Piedmont, Italy"
      ],
      "name": "Antonio Piga"
    },
    {
      "affiliations": [
        "University of Turin Department of Clinical and Biological Sciences, Orbassano, Piedmont, Italy"
      ],
      "name": "Daniela Francesca Giachino"
    },
    {
      "affiliations": [
        "Thalassemia Centre, San Luigi Gonzaga University Hospital, Orbassano, Piedmont, Italy"
      ],
      "name": "Giorgia Mandrile"
    }
  ],
  "title": "Changes in attitudes towards prenatal diagnosis for haemoglobinopathies: a 40-year retrospective observational study in Northern Italy",
  "uid": "9d52f937-8ebc-5b89-b11a-8c9e6a1f5a71"
}