Making the most of the first prenatal visit: The challenge of expanding prenatal genetic testing options and limited clinical encounter time

Abstract

Objective Advances in prenatal genetics place additional challenges as patients must receive information about a growing array of screening and testing options. This raises concerns about how to achieve a shared decision‐making process that prepares patients to make an informed decision about their choices about prenatal genetic screening and testing options, calling for a reconsideration of how healthcare providers approach the first prenatal visit. Methods We conducted interviews with 40 pregnant women to identify components of decision‐making regarding prenatal genetic screens and tests at this visit. Analysis was approached using grounded theory. Results Participants brought distinct notions of risk to the visit, including skewed perceptions of baseline risk for a fetal genetic condition and the implications of screening and testing. Participants were very concerned about financial considerations associated with these options, ranking out‐of‐pocket costs on par with medical considerations. Participants noted diverging priorities at the first visit from those of their healthcare provider, leading to barriers to shared decision‐making regarding screening and testing during this visit. Conclusion Research is needed to determine how to restructure the initiation of prenatal care in a way that best positions patients to make informed decisions about prenatal genetic screens and tests.

The Emergence and Global Spread of Noninvasive Prenatal Testing

“…NIPT's coverage by Medicaid or private insurance is a critical factor in women's decision-making. In a cost-benefit reasoning where amniocentesis is covered in most US states and the result is diagnostic, NIPT's cost may not seem worthwhile for many women (11,51).…”

“…NIPT's expanded coverage would enhance access and hence reproductive autonomy, but it would also raise certain issues, especially if offered for an expanded range of conditions. People generally support using NIPT to detect a broader range of severe genetic conditions, although they acknowledge the complexities it would raise for decision-making and the possible exacerbation of the information overload associated with prenatal testing, which may reduce the capacity for informed choice (5,51).…”

“…Prenatal care providers find it challenging to keep up with NIPT's developments, express the need for more training, and report a lack of time to counsel their patients (55). The shortage of genetic counselors and physicians certified in genetics makes it difficult to support an increasing number of NIPT users (10,51), and patient advocacy groups have limited resources to respond to questions (101). Appropriate resources for HCP training and funding for patient advocacy groups are thus imperative to mitigate these issues.…”

Evaluating for disparities in prenatal genetic counseling

“…Ideally, education is performed at the first prenatal visit and includes discussion of both aneuploidy and genetic carrier screening. In clinical practice, helping patients make an educated choice regarding prenatal genetic screening can be challenging [2]. An increasing number of topics to review in the first visit, non-uniform financial coverage, language barriers, variance in health literacy, and patients presenting in the second trimester are just a few of the barriers patients and providers might face [3].…”

Impact of Telehealth on the Delivery of Prenatal Care During the COVID-19 Pandemic: Mixed Methods Study of the Barriers and Opportunities to Improve Health Care Communication in Discussions About Pregnancy and Prenatal Genetic Testing

“…Prenatal genetic screens and diagnostic tests are examples, which are time-sensitive with respect to the gestational age at which the testing windows open and close [ 11 ]. A delay in access to information about these tests, or use of these tests, can have major implications for the outcome of the pregnancy [ 12 ]. Because of factors such as these, telehealth was rapidly implemented across average-risk and high-risk patients, and at different gestational ages [ 13 - 15 ].…”