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

ABSTRACT: OBJECTIVE:To assess pregnant women's views and preferences on noninvasive prenatal whole genome sequencing. METHODS: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. RESULTS: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. CONCLUSION: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.

SUBMITTER: Sullivan HK

PROVIDER: S-EPMC6389368 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature

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Project description:Pregnant Hispanic women are underserved with their needs for genetic counseling, despite birth defects remaining the leading cause of infant death in the United States. We present the qualitative findings of a study to understand knowledge and perceptions of prenatal testing in a sample of hard-to-reach underrepresented Hispanic pregnant women in South Texas. The sample for this study was 10 Hispanic pregnant women who were recruited from a high-risk prenatal clinic in South Texas in 2019. The semi-structured interview questions were created based on the researchers' clinical experiences with this population and were designed to examine knowledge and perceptions of participants toward prenatal testing. Analysis of the qualitative data yielded several themes related to prenatal testing: (a) knowledge, (b) confusion, (c) partner's and support persons' opinions, (d) information sharing from providers, (e) psychological benefits, (f) preparation for baby, (g) obstacles, (h) religious influence, and (i) educational tools to assist with understanding. Women's understanding and knowledge of prenatal testing was limited, specifically regarding its purpose, how it works, the benefits, and why it was recommended by their provider. Lack of clarity about why they should take the test and its risks for them and their babies was perceived as something that could impede their acceptance of prenatal testing. All participants agreed that healthcare providers should share more information about prenatal testing in a way that uses 'everyday language' so that they can understand it better. All respondents mentioned that prenatal testing provides information about their baby's health conditions, alleviates their stress and concerns, and psychologically prepares them and their family for what is to come. Identifying ways to increase culturally appropriate education delivered by genetic counselors such as through the adoption of telemedicine and mobile technology can help fill the gap for this underserved population.

Project description:Introduction: Noninvasive prenatal testing (NIPT) using cell-free DNA (cfDNA) is typically carried out to screen for common fetal chromosomal anomalies, with the option to screen for a wider range of chromosomal changes (expanded NIPT) becoming increasingly available. However, little is known about pregnant patients' attitudes and preferences regarding expanded NIPT. Methods: To address this gap, we surveyed general-risk patients having first-tier cfDNA screening at a private prenatal clinic on their expectations for expanded NIPT. Patients were asked questions regarding their current pregnancy and previous pregnancy history, their opinions on fetal DNA screenings during pregnancy and incidental findings, information and opinions on financial resources for NIPT, as well as socio-cultural questions to determine patient demographics. Results: Of the 200 survey participants, the majority were educated, self-reported as white, had a higher than average income, and reported no aneuploidy risk factors. When asked what information they would like to receive from cfDNA screening, the vast majority of participants wanted all information available that could have an immediate impact on fetal health (88%) or an immediate impact on infant health from birth (82%). Many participants also wanted information that could have a future impact on the child's health or an immediate or future impact on the pregnant woman's own health. Most participants wanted information about the sex of fetus (86%) and common trisomies (71%), with almost half of participants desiring information about rare autosomal aneuploidies and/or all genetic information that may affect the baby. In addition, participants were found to be comfortable screening for conditions that are well-known, influence care during pregnancy, and are treatable. Finally, while most respondents either had insurance coverage for NIPT or were able to afford NIPT out of pocket, the majority of our participants felt that expanded NIPT should be either free for everyone or for those considered high risk. Discussion: Our findings suggest that with appropriate pre-test counseling, pregnant patients may choose NIPT for an expanding list of conditions.

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

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