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Det danske screeningsprogram for hæmoglobinopatier

Forfatter(e)

Andreas Glenthøj1, 2, Mie Samson3, Nina Toft1, Birgitte Rode Diness2, 4, Nikolaj Askjær5, Fie Juhl Vojdeman6, Henrik Birgens1, Morten Beck Sørensen7 & Jesper Petersen1

1) Videnscenter for Hæmoglobinsygdomme, Afdeling for Blodsygdomme, Herlev Hospital, 2) Institut for Klinisk Medicin, Det Sundhedsvidenskabelige Fakultet, Københavns Universitet, 3) Blodprøver og Biokemi, Aarhus Universitetshospital, 4) Klinisk Genetisk Klinik, Rigshospitalet, 5) Lægerne Aldershvilevej, Bagsværd, 6) Klinisk Biokemisk Afdeling, Herlev Hospital, 7) Afdeling for Kvindesygdomme, Graviditet og Fødsler, Herlev Hospital

Ugeskr Læger 2021;183:V07200536

Reference: 
Ugeskr Læger 2021;183:V07200536
Blad nummer: 
The Danish screening programme for haemoglobinopathies

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.

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