Couple’s Narratives of Communion and Isolation Following Abnormal Prenatal Microarray Testing Results

Abstract

In 2% to 3% of cases, prenatal microarray testing detects deletions and duplications in a fetus' genome that are undetected by conventional cytogenetics. Many of these changes are associated with variable or uncertain symptomatology. Little is known about how couples experience uncertain results. This study analyzed 24 interviews with members of 12 heterosexual U.S. couples who received pathogenic or uncertain microarray prenatal testing results. Researchers used narrative analysis to examine couples' understanding and incorporation of findings into decision making regarding pregnancy termination. Couples felt unprepared for these findings and frustrated because scant information was available to aid interpretation. Women sought information and made decisions, and men marginalized their distress to support their wives. A shift in voice from first to second person indicated attempts to normalize emotional responses by making the process "common" to all couples. Families pursuing highly sensitive prenatal testing may need expert guidance to support decision making.

“Something Extra on Chromosome 5”: Parents’ Understanding of Positive Prenatal Chromosomal Microarray Analysis (CMA) Results

“…Participants who initially understood their results as abnormal or uncertain were relieved to learn an apparently normal parent carried the same CNV. Such an interpretation is consistent with research suggesting parents interpret findings to relieve anxiety, establish normalcy in their pregnancy narrative (Werner-Lin et al 2015) and assuage dissonance (Semaka et al 2013). Although inherited CNVs may be less likely to pose risk than de novo CNVs (Martin et al 2015), interpreting an inherited variant as benign is potentially problematic because risk may still be heightened since CNVs inherited from an apparently normal parent may affect offspring differently (Costain 2015; Finucane et al 2015; Lowther et al 2015).…”

“…Such gendering of knowledge may account, in part, for the discrepancies observed between women and men. This, however, limits couples’ ability to equally contribute to informed decision making about the pregnancy, expectations of the fetus’ health, and role as parents (Werner-Lin et al 2015). …”

“…When uncertain results are found, information may be poorly understood (Hillman et al 2015) and parents often experience distress (Bernhardt et al 2013; Werner-Lin et al 2015). In such cases, even small changes in risk can shape women's risk perception and pregnancy choices (Richards et al 2015).…”

Parental perceptions of prenatal whole exome sequencing (PPPWES) study

“…Limited data are available on how patients perceive VUS and incidental findings with prenatal WES and their impact on decision‐making. In studies of prenatal microarray results in which parents have received uncertain results, they expressed surprise and frustration at the limited information available . Reported in up to 13% of cases, the frequency of VUS depends on the diagnostic laboratory's criteria for reporting WES results.…”

Genetics professionals’ attitudes toward prenatal exome sequencing

“…While it is possible to receive VUS results with other types of prenatal testing currently in use clinically, such as microarray, there have always been concerns about the potential for psychological harm to parents when receiving uncertain information during a pregnancy (Stark, Gillam, Walker, & McGillivray, ). In studies on parents receiving uncertain results from prenatal microarray, women have reported difficulty with emotionally and intellectually managing that uncertainty, especially given the time constraints of decision‐making in this setting (Bernhardt et al, ; Werner‐Lin et al, ). Additionally, the VUS rate is expected to be higher when performing ES due to the larger scale of testing (Grody et al, ) and because of the lack of complete phenotypic information, which drives variant classification.…”