Genetisk screening af kommende forældre

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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.

Translated title of the contributionGenetic screening of prospective parents
Original languageDanish
Article numberV12200933
JournalUgeskrift for Laeger
Volume183
Issue number13
Number of pages9
ISSN0041-5782
Publication statusPublished - 29 Mar 2021

ID: 288283783