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Genetisk screening af kommende forældre

Publikation: Bidrag til tidsskriftReviewForskningpeer review

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@article{237f0257631447529995e3c54f9472cd,
title = "Genetisk screening af kommende for{\ae}ldre",
abstract = "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.",
keywords = "Child, Genetic Carrier Screening, Genetic Counseling, Genetic Testing, Humans, Parents, Prospective Studies",
author = "Smed, {Vibe Madsen} and Petersen, {Olav Bennike Bj{\o}rn} and Gerdes, {Anne-Marie Ax{\o}} and Diness, {Birgitte Rode} and Roos, {Laura S{\o}nderberg}",
year = "2021",
month = mar,
day = "29",
language = "Dansk",
volume = "183",
journal = "Ugeskrift for Laeger",
issn = "0041-5782",
publisher = "Almindelige Danske Laegeforening",
number = "13",

}

RIS

TY - JOUR

T1 - Genetisk screening af kommende forældre

AU - Smed, Vibe Madsen

AU - Petersen, Olav Bennike Bjørn

AU - Gerdes, Anne-Marie Axø

AU - Diness, Birgitte Rode

AU - Roos, Laura Sønderberg

PY - 2021/3/29

Y1 - 2021/3/29

N2 - 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.

AB - 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.

KW - Child

KW - Genetic Carrier Screening

KW - Genetic Counseling

KW - Genetic Testing

KW - Humans

KW - Parents

KW - Prospective Studies

UR - https://ugeskriftet.dk/videnskab/genetisk-screening-af-kommende-foraeldre

M3 - Review

C2 - 33829993

VL - 183

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

SN - 0041-5782

IS - 13

ER -

ID: 65147392