Balancing Needs and Autonomy: The Involvement of Pregnant Women's Partners in Decisions About cfDNA.

Cell-free fetal DNA (cfDNA) screening is used to identify the presence of fetal genetic variants early in pregnancy. Patients' informed decision-making is central to the success of this new screen in clinical practice. Although research has focused on pregnant women's decision-making, little is known about partners' role and preferences as a member of the decision-making dyad. Using a grounded theory approach, this study analyzed 23 in-depth interviews to examine partners' perspectives about cfDNA screening and preferences with respect to their role in the decision-making process. Participants wished to be actively involved in testing decisions. They articulated a distinct set of needs and preferences in the decision-making process. Such involvement was hindered by several biological and logistical barriers. This study demonstrates the need to develop mechanisms that foster informed decision-making for cfDNA screening and related new reproductive genetic technologies that focus on not just the pregnant woman but also the decision-making dyad that includes her partner as well.

Patient-Centered Obstetric Care in the Age of Cell-Free Fetal DNA Prenatal Screening.

PURPOSE: The clinical introduction of innovative prenatal genetic technologies challenges patients and providers to find new ways of fostering informed decision-making in a setting characterized by complexity and uncertainty. As prenatal genetic technology advances, important questions remain about how to structure patient-centered conversations that effectively prepare pregnant patients to make informed choices about the different genetic conditions for which this new form screening may be used. METHODS: Focus groups were conducted with 23 pregnant women to identify informational needs and decision-making preferences regarding emerging and anticipated applications of cell-free fetal DNA screening, the newest form of prenatal genetic screening. RESULTS: Participants were in favor of obtaining more genetic information about the fetus than provided by conventional screens but acknowledged the challenges inherent in navigating the unique complexities of the decision-making process. The provider-patient relationship was seen as an important resource to navigate the associated uncertainties at each stage of the screening process. Participants emphasized the need for initiatives to support a personalized, accurate, and unbiased discussion about prenatal genetic risk and assessment. CONCLUSION: Continued advances in prenatal genetic screening call for new approaches to structure patient-centered communication to facilitate increasingly complex decisions about fetal genetic risk and assessment.

The use of noninvasive prenatal testing in obstetric care: educational resources, practice patterns, and barriers reported by a national sample of clinicians.

OBJECTIVE: The aim of this study was to identify how physicians develop their knowledge base and practice patterns regarding noninvasive prenatal testing (NIPT). METHODS: A survey was used to assess physicians' informational sources and practice patterns regarding NIPT. RESULTS: While most of the 258 participants acquire knowledge about NIPT from the medical literature or didactic educational programming, 74 (28.7%) cite commercial laboratories as an initial source and 124 (47.8%) as a way to keep current with changes in NIPT. About one-third (n = 94, 36.4%) seek information about ethical issues related to NIPT. Half of the OB/GYN respondents (n = 136, 52.7%) provide pretest counseling; fewer refer to a genetic counselor or maternal fetal medicine specialist (MFM) (n = 94, 34.6%, n = 29, 11.2%, respectively). Pretest counseling content and the comfort with which participants discuss topics pertinent to patients' utilization of NIPT varied between OB/GYNs and MFMs. CONCLUSIONS: Advances in cff DNA technology emphasize the need for effective strategies for physicians to develop competency and practice patterns regarding NIPT. Study findings speak to the need for effective educational resources for obstetric providers, not just early adopters of NIPT but also for primary OB/GYNs as they serve in the role of the first point of contact for women considering their prenatal testing options. © 2016 John Wiley & Sons, Ltd.

Online direct-to-consumer messages about non-invasive prenatal genetic testing.

Non-invasive prenatal testing (NIPT) has been integrated into clinical care at a time when patients and healthcare providers increasingly utilize the internet to access health information. This study evaluated online direct-to-consumer information about NIPT produced by commercial laboratories accessible to both patients and healthcare providers. A coding checklist captured areas to describe content and assess concordance with clinical guidelines. We found that the information presented about NIPT is highly variable, both within a single website and broadly across all websites. Variability was noted in how NIPT is characterized, including test characteristics and indications. All laboratories offer NIPT to test for common sex chromosome aneuploidies, although there is a lack of consistency regarding the conditions offered and information provided about each. Although indicated for a subset of women at increased risk of aneuploidy, some laboratories describe the use of NIPT for all pregnant women. A subset of laboratories offers screening for microdeletions, although clinical practice guidelines do not yet recommend for general use for this indication. None of the online materials addressed the ethical issues associated with NIPT. This study highlights the need for clear, consistent, and evidence-based materials to educate patients and healthcare providers about the current and emerging applications of NIPT.