Table 3.

All qualitative responses and recurring themes are presented here (thematic categories of responses that had less than 4 were not included)

Question	Number of responses	Thematic category description
Question 4—How would/do you explain an “unknown” result in three sentences or less?	14	A mutation without enough information to conclude definitively
	6	Mutations that don’t indicate a known/already identified syndrome
	5	A deletion/duplication
Question 11—The most important outcome of having this specific result is…	8	Giving us more information about my child’s health in general
	7	That it may be causal
	5	To rule out other diagnoses
Question 12—The least important outcome of this test result is…	10	Not having a definitive diagnosis
	4	Having an uncertainty about my child’s future
Question 18—How did this unknown result change your understanding of your child’s ID/ASD/DD?	13	Did not change understanding of ID/ASD/DD
	9	May be causal/insight to genetic contributions
Question 20—If your child’s medical management has changed for any reason because of this result, please explain these changes…	6	Further medical consults for symptoms
Question 23—If you were to have another child, would you have him/her tested for the same “unknown” result/genetic change as a newborn?	7 responded Yes	For anticipatory guidance with medical care
	12 responded No	Reasons provided: My other child/children is/are without symptoms, cost, no diagnosis was gained, and the cause is environmental