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. Author manuscript; available in PMC: 2017 Oct 1.
Published in final edited form as: J Genet Couns. 2016 Mar 4;25(5):1116–1126. doi: 10.1007/s10897-016-9943-z

Table 2.

Themes and illustrative quotes relating to description of results

Theme Illustrative quote
Type of result (deletion, duplication, mosaicism)
        Correct (n=28 women, 8 men) “we've got the results of this like duplication”
“there was a micro deletion”
        Incorrect/ unsure/ not mentioned (n= 0 women, 3 men) “there was some grey area”
“there was an abnormal finding”
Chromosome involved or disorder
        Correct (n=24 women, 6 men) “It's a 15q11”
“...tested positive for Beckwith-Wiedemann”
“the issue was the DiGeorge”
        Incorrect/ unsure/ not mentioned (n= 4 woman, 6 men) “but it was a micro deletion...I forgot which one”
“I'm not sure if it was a chromosome or what the issue was”
Inheritance (inherited/ de novo)
        Correct (n=28 women, 12 men) “the two anomalies that showed up on the fetus were both inherited”
“one inherited from my husband and one de novo”
“Unfortunately for us we were both negative”
        Incorrect/ unsure/ not mentioned (n=0)