Abstract

Chromosomal microarray has considerably improved our ability to identify or dismiss genetic conditions in the unborn child. However, this detailed analysis also reveals copy number variants (CNVs) of unknown or uncertain significance, in which the specific child's prognosis can be difficult to predict. Little is known about the longer-term impacts of receiving an uncertain prenatal CNV result. Our qualitative study explored how such a result was perceived and managed in everyday life, 2 years after it was received.

From an original sample of 16 couples, nine women participated in a semi-structured follow-up phone interview. Transcripts were analyzed using thematic analysis. The results show that these women did not perceive the CNV result to be a part of their everyday lives. They managed the CNV result by focusing on the child's positive development, by not sharing the CNV information in wider social networks, and by emphasizing parental values such as taking life as it comes, welcoming human variation, and accepting that dealing with a child's struggles is an inherent part of parenthood.

Overall, the women expressed a positive attitude toward prenatal genetic information about serious disorders but considered 'their' CNV to be close to normal; several women suggested that such findings should not be reported. However, they also recognized the difficulties in making such decisions, given variable penetrance and that couples' definitions of 'serious' could vary significantly. The diagnostic process during pregnancy was remembered as being highly stressful, and many expressed a need for more control in a future pregnancy.

Our study provides insight into how mothers reconfigure CNV results to fit their values and everyday lives. When delivering uncertain CNV results in a prenatal setting, genetics healthcare providers should present and discuss long-term coping strategies with expecting parents.