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Genetisk screening af kommende forældre

Forfatter(e)

Vibe Madsen Smed1, Olav Bennike Bjørn Petersen2, Anne-Marie Axø Gerdes1, Birgitte Rode Diness1 & Laura Sønderberg Roos1

1) Klinisk Genetisk Afdeling, Københavns Universitetshospital – Rigshospitalet, 2) Center for Føtalmedicin og Graviditet, Københavns Universitetshospital – Rigshospitalet

Ugeskr Læger 2021;183:V12200933

Reference: 
UgeskrLæger 2021;183:V12200933
Blad nummer: 
Genetic screening of prospective parents

Risk of genetic diseases with autosomal recessive or X-linked inheritance can be unknown to prospective parents until an affected child is born. New technology has enabled carrier screening for hundreds of genetic diseases (expanded carrier screening, ECS). I Denmark, each year estimated 100-180 children are born affected with a serious condition which could have been detected with ECS of the parents. This review describes the considerations and perspectives of a systematic genetic screening programme for prospective parents in the Danish healthcare system.

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