Couples' Narratives of Communion and Isolation Following Receipt of Pathogenic or Uncertain Prenatal Genetic Testing Results We're on the Same Page after Ping-Ponging Back and Forth!

Background and purpose: In 2-3% of cases, prenatal microarray testing discovers genetic variants that are undetected by conventional prenatal testing. Many of these variants are poorly understood and limited information about outcomes is available. When a medical crisis is compounded by unknowable information, the creation of meaning can help prospective parents understand and structure events, support coping, and assist with culturally consonant decision-making. To understand how women and men are adapting to uncertainties associated with these new prenatal testing options, this study explored women’s and men’s stories of receiving a pathogenic or uncertain prenatal microarray result. 

Methods: Researchers recruited women who received abnormal microarray results following prenatal testing at a northeastern, urban, teaching and research hospital. Women completed a brief survey eliciting demographic information, genetic test results (normal, abnormal, or uncertain), and the approximate date results were received. The study coordinator completed a single semi-structured telephone interview with women, and separately with their male partners, when they indicated interest. The interview guide asked about the decision to have prenatal microarray testing, receiving results, the decision to continue or terminate the pregnancy, and participant needs throughout testing. A trans-disciplinary team analyzed all 12 paired transcripts using narrative and linguistic techniques. Analysis identified shared elements and discrepancies within couples’ narratives. Paired transcripts were then compared and contrasted across couples to identify common themes and patterns.

Findings: Overall, couples felt unprepared for abnormal findings and were surprised and frustrated because scant information was available to support informed decision making. Couples’ narratives included: consent for an often marginally understood genetic test, followed by results indicating an ambiguous or devastating symptomology, prompting the need to contemplate varied courses of action. Within couple analysis revealed that some couples worked together to create a coherent story establishing the crisis as a shared challenge to be overcome together. For other couples, the chaos that ensued following the ‘diagnostic tornado’ of an abnormal test result did not immediately resolve; these couples struggled to access information and resources, coped in isolation from each other, and struggled to find words to describe their experiences during the interview. This pattern did not vary by type of prenatal finding. Between couples, women functioned as primary information seekers and decision-makers, and men often marginalized their distress to provide emotional support and reassurance to their wives. A shift in voice from the first to the second person ‘you’ indicated attempts to normalize emotional responses by making the crisis and resulting decisions ‘common’ to all couples.

Conclusion and Implications: Rapid diffusion of novel prenatal genetic tests is eclipsing research into the broad psychosocial, ethical, and empirical concerns related to minimally invasive prenatal testing. As more complete analysis of the fetal genome becomes feasible, widespread dissemination and normalization of sensitive prenatal screening might compromise informed consent as prospective parents agree to procedures they do not fully understand. Researchers and clinicians must partner to meet the informational and support needs of couples consenting for highly sensitive prenatal testing and receiving uncertain results.