Table 2.
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) | — |