Patricia K. Agatisa

It's More Than a Blood Test: Patients' Perspectives on Noninvasive Prenatal Testing.

Noninvasive prenatal testing (NIPT) offers pregnant women a new risk assessment tool for fetal aneuploidy that is superior to conventional screening tests. We conducted focus groups with women who were currently pregnant or had recently delivered in the past year to characterize their perspectives about NIPT and to explore factors they would consider during decision making about its use. Women identified accuracy, early timing, testing ease, and determination of fetal sex as advantages of NIPT over other screens, and the noninvasive method of NIPT as an advantage over diagnostic tests. False positive and false negative results, anxiety, cost and insurance coverage were seen as disadvantages of NIPT. Women who do not want fetal aneuploidy information most likely will not undergo NIPT, despite its advantages over other screening tests. However, given its advantages, the decision to have NIPT is straightforward for women who want genetic information about the fetus. Women emphasized the need to make autonomous, private, and informed choices about NIPT, as they would with any prenatal genetic testing option. These perspectives may guide clinicians to conduct effective and clinically relevant counseling with pregnant women who consider utilizing this new genetic technology.

Patient-Centered Prenatal Counseling: Aligning Obstetric Healthcare Professionals With Needs of Pregnant Women

The first trimester aneuploidy screen (FTS) continues to be a leading approach to identify the risk of fetal aneuploidy. This study evaluated how obstetric (OB) professionals counsel women about FTS as one of a growing number of options to assess fetal health. A survey was completed by OB professionals (board-certified obstetrician/gynecologists and certified nurse midwives) between February and March 2011: (1) to identify knowledge and practice patterns with regard to FTS, and (2) to compare pregnant women’s educational needs and decision-making preferences with clinicians’ perceptions of these factors. A total of 216 surveys (11 percent) were completed by OB professionals and analyzed. Several barriers to effective patient counseling were identified, including gaps in obstetric professionals’ mastery of the screening test characteristics and variable approaches to discuss concepts of aneuploidy risk. OB participants reported limited confidence in discussing patient-valued topics, specifically post-screen options and pregnancy termination. Discordance was identified between OB professionals’ perceptions of pregnant women’s educational needs and decision-making preferences specific to FTS and historical data recently collected from 139 pregnant women who underwent the FTS. Study findings illustrate the need for clinician-targeted strategies to support pregnant women as they formulate informed decisions about the tests that may have a salient impact on their prenatal care decisions.

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

The aim of this study was to identify how physicians develop their knowledge base and practice patterns regarding noninvasive prenatal testing (NIPT).

A first look at women's perspectives on noninvasive prenatal testing to detect sex chromosome aneuploidies and microdeletion syndromes

The aim of this study is to explore womens opinions about the use of noninvasive prenatal testing (NIPT) to assess the risk of sex chromosome aneuploidies and microdeletion syndromes.

Meeting patients' education and decision-making needs for first trimester prenatal aneuploidy screening.

First trimester aneuploidy screening introduces unique challenges to patient education and informed decision‐making. Our study assessed the decision‐making process among those pregnant patients presenting for this new form of aneuploidy screening.

Balancing Risks: The Core of Women's Decisions About Noninvasive Prenatal Testing

Background: Noninvasive prenatal testing (NIPT) using cell-free fetal DNA is having a significant impact on the delivery of prenatal care. Our objective was to identify how pregnant women characterize the risks and benefits of this screening test and their preferences in order to guide an informed decision-making process about its use. Methods: We conducted focus groups with women who were either pregnant or recently postpartum who received outpatient prenatal care. A moderator guide was used to elicit participants’ perspectives on noninvasive prenatal testing. Results: Despite the low chance of a false positive result, this aspect of NIPT was a key determinant in participants’ decision making about the screening test. Participants discussed how many of the drawbacks and considerations associated with prenatal screening would remain intact regardless of the accuracy of a new approach to assess fetal health. Conclusions: NIPT affects how women think about risk not only in regard to prenatal genetic screening but also broadly in the context of pregnancy. The unique and appealing aspects of NIPT do not simplify womens decision-making processes or reduce the support they need to make choices that align with their needs and preferences.

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.

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.

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.

Genetic Counselors’ Perspectives About Cell-Free DNA: Experiences, Challenges, and Expectations for Obstetricians

The expansion of cell-free fetal DNA (cfDNA) screening for a larger and diverse set of genetic variants, in addition for use among the low-risk obstetric population, presents important clinical challenges for all healthcare providers involved in the delivery of prenatal care. It is unclear how to leverage the different members of the healthcare team to respond to these challenges. We conducted interviews with 25 prenatal genetic counselors to understand their experience with the continued expansion of cfDNA screening. Participants supported the use of cfDNA screening for the common autosomal aneuploidies, but noted some reservations for its use to identify fetal sex and microdeletions. Participants reported several barriers to ensuring that patients have the information and support to make informed decisions about using cfDNA to screen for these different conditions. This was seen as a dual-sided problem, and necessitated additional education interventions that addressed patients seeking cfDNA screening, and obstetricians who introduce the concepts of genetic risk and cfDNA to patients. In addition, participants noted that they have a professional responsibility to educate obstetricians about cfDNA so they can be prepared to be gatekeepers of counseling and education about this screening option for use among the general obstetric population.