
The study explores genetic counseling practices regarding cfDNA results indicating mosaic monosomy X, with 95% of counselors feeling prepared but revealing varied management approaches. While 62% of counselors’ approaches did not change based on symptoms, 95% ordered maternal karyotype testing. Patient interviews revealed that 100% were unaware of incidental findings from cfDNA, leading to feelings of surprise, confusion, and worry. The study suggests the need for professional guidelines to reduce stress for both patients and providers.
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