Andreas Glenthøj, Mie Samson, Nina Toft, Birgitte Rode Diness, Nikolaj Askjær, Fie Juhl Vojdeman, Henrik Birgens, Morten Beck Sørensen & Jesper Petersen

Ugeskr Læger 2020;182:V07200536

The prevalence of people in Denmark descending from areas with a high prevalence of haemoglobinopathies is approximately one tenth and increasing. Since 1995, the Danish Health Authority has recommended haemoglobinopathy screening of pregnant women with ethnic roots outside Northern Europe. Partners of pregnant haemoglobinopathy carriers are also tested. Carrier state in both parents leads to genetic counselling, and prenatal diagnostics of the foetus (chorionic villus biopsy or amniocentesis) is offered, which can lead to abortion and/or preimplantation genetic screening for future pregnancies, as discussed in this review.