Cell-Free DNA Results Indicating Mosaic Monosomy X of Likely Maternal Origin: Impact on Genetic Counseling Practices...

To investigate the current genetic counseling practices involving a cfDNA result indicating mosaic monosomy X of likely maternal origin, and to better understand the perspectives of patients who have received this result.

A total of 60 prenatal genetic counselors completed surveys about their experiences with this result, cfDNA consenting practices, and management practices. In addition, qualitative interviews were conducted with 5 patients to gain insight into their experiences with result disclosure and follow-up care.

95% of genetic counselors reported feeling prepared to counsel on these results. However, responses to current practices varied. Of the genetic counselors surveyed, 62% state that their approach to management does not differ if the patient is symptomatic. Responses indicated 95% of genetic counselors ordered a karyotype for maternal diagnostic testing, and 30% ordered a chromosomal microarray. Interviews of patients found that 100% were not aware of the possibility of receiving an incidental finding from cfDNA. Patients reported feeling surprised, confused, and worried when they received their results.

The majority of genetic counselors report feeling confident in counseling these results, but their current practices vary. Patients who receive these results are found to have a difficult time adapting due to feeling surprised and confused. Based on these findings, we believe professional practice guidelines are needed to establish clear management recommendations, which in turn would hopefully decrease patient and provider stress.