lunes, 18 de febrero de 2019

Noninvasive Prenatal Whole Genome Sequencing: Pregnant Women's Views and Preferences. - PubMed - NCBI

Noninvasive Prenatal Whole Genome Sequencing: Pregnant Women's Views and Preferences. - PubMed - NCBI

 2019 Feb 4. doi: 10.1097/AOG.0000000000003121. [Epub ahead of print]

Noninvasive Prenatal Whole Genome Sequencing: Pregnant Women's Views and Preferences.



To assess pregnant women's views and preferences on noninvasive prenatal whole genome sequencing.


A survey was offered to 805 pregnant women receiving prenatal care in practices affiliated with a large, tertiary care maternity hospital. Respondents were asked to envision undergoing prenatal whole genome sequencing and discuss their preferences and reasons for receiving different categories of genomic results, organized by actionability, severity, prevalence, and age of onset. The survey also queried respondents on their preferred role for clinicians in prenatal whole genome sequencing decision-making, and on their demographics and genetic literacy.


From June to August 2017, a total of 553 respondents returned the survey (response rate=68.7%). Respondents were most likely to want information regarding serious treatable childhood-onset conditions (89.7%) and least likely to want to receive information about nonmedical traits from prenatal whole genome sequencing (40%). The most frequently cited reason for wanting medical prenatal whole genome sequencing results was "to prepare financially, medically, or psychologically for a child with special needs." In total, 10.5% of respondents wanted clear recommendations from clinicians about the categories of information that are most appropriate to test for, 44.7% wanted clear recommendations plus all options presented, 26.2% wanted all options presented and joint decision-making, and 13.2% wanted all options presented and independent decision-making.


Respondents generally preferred to receive all categories of genetic results pertaining to medical conditions and wanted the information to prepare. More than half of respondents wanted (at minimum) clear recommendations from clinicians when deciding which prenatal whole genome sequencing results to receive.


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