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Western Australian women's expectations for expanded NIPT-An online survey regarding NIPT for single gene, recessive and chromosomal conditions.
Long, Sarah; O'Leary, Peter; Dickinson, Jan E.
Afiliação
  • Long S; Genetic Services of Western Australia, King Edward Memorial Hospital for Women, Subiaco, Australia.
  • O'Leary P; Division of Obstetrics and Gynaecology, The University of Western Australia, Perth, Australia.
  • Dickinson JE; Division of Obstetrics and Gynaecology, The University of Western Australia, Perth, Australia.
J Genet Couns ; 32(5): 1047-1056, 2023 10.
Article em En | MEDLINE | ID: mdl-37096445
Prenatal screening has evolved rapidly following the introduction of non-invasive prenatal testing (NIPT), with screening now available for an increasing number of conditions. We explored the attitudes and expectations of women within the context of using NIPT to detect multiple different single gene and chromosome conditions during pregnancy. An online survey was used to assess these issues with a sample of 219 women from Western Australia. In our study, the majority of women (96%) support of the concept of expanded NIPT for single gene and chromosome conditions provided the test involves no risk to the pregnancy and can provide the parents with relevant medical information about the fetus at any stage of pregnancy. 80% believed that expanded NIPT for single gene and chromosome conditions should be available at any stage during pregnancy and 68% of women indicated that test cost would be a factor in determining their participation in testing. Under half (43%) of the women favored an option to terminate a pregnancy at any stage if the fetus had a medical condition that would interfere with day to day functioning. The majority (78%) of women believed that testing for multiple genetic conditions would provide reassurance and lead to the delivery of a healthy child.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Transtornos Cromossômicos Limite: Child / Female / Humans / Pregnancy País/Região como assunto: Oceania Idioma: En Revista: J Genet Couns Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Austrália

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Transtornos Cromossômicos Limite: Child / Female / Humans / Pregnancy País/Região como assunto: Oceania Idioma: En Revista: J Genet Couns Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Austrália