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

Abstract

This study aims to explore how couples’ understanding of the nature and consequences of positive prenatal chromosomal microarray analysis (CMA) results impacts decision-making and concern about pregnancy. We interviewed 28 women and 12 male partners after receiving positive results and analyzed the transcripts to assess their understanding and level of concern about the expected clinical implications of results. Participant descriptions were compared to the original laboratory interpretation. When diagnosed prenatally, couples’ understanding of the nature and consequences of copy number variants (CNVs) impacts decision-making and concern. Findings suggest women, but less so partners, generally understand the nature and clinical implications of prenatal CMA results. Couples feel reassured, perhaps sometimes falsely so, when a CNV is inherited from a “normal” parent and experience considerable uncertainty when a CNV is de novo, frequently precipitating a search for additional information and guidance. Five factors influenced participants’ concern including: the pattern of inheritance, type of possible phenotypic involvement, perceived manageability of outcomes, availability and strength of evidence about outcomes associated with the CNV, and provider messages about continuing the pregnancy. A good understanding of results is vital as couples decide whether or not to continue with their pregnancy and seek additional information to assist in pregnancy decision-making.

Balancing Genetics (Science) and Counseling (Art) in Prenatal Chromosomal Microarray Testing

“…Identifying the ways patients gather information in the face of uncertainty is an important piece of the on-going assessment (see Table 3). Clinicians will best serve prospective parents by advising them on how to search for and sort through the array of available online information (Bernhardt et al 2012;Walser et al 2016), including medical literature, links to support groups (online and in-person), and reputable websites (Rubel et al 2015). Helping patients to recognize whether they tend to continue to search for information even after it is clear they have exhausted the limits of knowledge (maximizers) or whether they can be satisfied with the information provided by the genetic counselor (satisficers) (Schwartz et al 2002) will help them place such information-searching into perspective.…”

“…Both partners hear the genetic counselor's assessment of what information is clear and what is uncertain or unable to be known. To facilitate participation of partners (after HIPAA clearances) providers may request email or phone information and reach out directly to elicit questions or concerns and invite them to attend sessions (Walser et al 2016).…”

“…Information should therefore be tailored according to how much information is desired by the patient and the pace of delivery (Epstein and Gramling 2013). This information combined with the patient's assessment of the potential child's quality of life and concern about the challenges the family will face if the pregnancy is carried to term, become important metrics for prospective parents' decision-making about whether to continue or terminate an affected pregnancy (McCoyd 2008;Walser et al 2016). Counselors must understand how to explain terminology associated with genetic variants (e.g.…”

The personal utility of cfDNA screening: Pregnant patients' experiences with cfDNA screening and views on expanded cfDNA panels

“…This kind of tradeoff would come into play when confronting the possibility of learning about numerous genetic conditions, each with different clinical outcomes (e.g., age of onset, phenotype, penetrance, and expressivity) and test associated characteristics (e.g., detection rate and positive predictive value for each condition). This process would also be of importance when determining what thresholds of uncertainty could be tolerated by the patient and family in the process of testing (Bernhardt et al, ; Walser, Werner‐Lin, Russell, Wapner, & Bernhardt, ), most notably when individualized outcomes could not be determined until after birth (Aarabi et al, ; Best et al, ; Bianchi et al, ; Wapner, Driscoll, & Simpson, ). While this finding was noted in our study population, important questions remain about the role of values in women of different age and reproductive history groups in conjunction with advances in cfDNA capability.…”

Expert Knowledge Influences Decision-Making for Couples Receiving Positive Prenatal Chromosomal Microarray Testing Results

“…Social network analysis is often used to address this knowledge deficit (Hillman et al 2013;McKechnie, Pridham, and Tluczek 2014;Atkinson, Featherstone, and Gregory 2013), but is insufficient to capture the broad range of resources needed in such an overwhelming gap in knowledge that has such high consequences, as is the case with receiving a prenatal VUS result. In particular, when there is no familial linkage between a genetic variant and a phenotype, as is the case of a de novo VUS, families have increased concern (Walser et al 2016) and must extend their information search beyond the boundaries of biomedical knowledge.…”