Journal article

Which types of conditions should be included in reproductive genetic carrier screening? Views of parents of children with a genetic condition

Lauren A Thomas, Sharon Lewis, John Massie, Edwin P Kirk, Alison D Archibald, Kristine Barlow-Stewart, Felicity K Boardman, Jane Halliday, Belinda McClaren, Martin B Delatycki

European Journal of Medical Genetics | ELSEVIER | Published : 2020


Reproductive genetic carrier screening identifies couples with an increased chance of having children with autosomal and X-linked recessive conditions. Initially only offered for single conditions to people with a high priori risk, carrier screening is becoming increasingly offered to individuals/couples in the general population for a wider range of genetic conditions. Despite advances in genomic testing technology and greater availability of carrier screening panels, there is no consensus around which types of conditions to include in carrier screening panels. This study sought to identify which types of conditions parents of children with a genetic condition believe should be included in ..

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