Changes in attitudes towards prenatal diagnosis for haemoglobinopathies: a 40-year retrospective observational study in Northern Italy.

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 a

SUBMITTER: Voi V 

PROVIDER: S-EPMC12684215 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature