Association between rare, genetic variants linked to autism and ultrasonography fetal anomalies in children with autism spectrum disorder

Table 2 Association between UFAs and genetic mutations

UFA type	Mutation type		N(%)	Adjusted odds ratio (aOR) ^a	95% CI
Any UFA (N = 43)	Any mutation	No	16(24.2)	Ref.
	Any mutation	Yes	27(45.0)	2.57	1.19–5.52
	Loss of function	No	26(28.3)	Ref.
	Loss of function	Yes	17(50.0)	2.55	1.13–5.80
	De novo	No	38(33.6)	Ref.
	De novo	Yes	5(38.5)	1.09	0.34–3.66
Structural anomalies (N = 20)	Any mutation	No	3(4.5)	Ref.
	Any mutation	Yes	17(28.3)	8.28	2.29–30.01
	Loss of function	No	8(8.7)	Ref.
	Loss of function	Yes	12(35.3)	5.72	2.08–15.71
	De novo	No	17(15.0)	Ref.
	De novo	Yes	3(23.1)	1.65	0.41–6.74
Soft marker (N = 26)	Any mutation	No	14(21.2)	Ref.
	Any mutation	Yes	12(20.0)	0.90	0.37–2.18
	Loss of function	No	19(20.7)	Ref.
	Loss of function	Yes	7(20.6)	0.97	0.36–2.63
	De novo	No	23(20.4)	Ref.
	De novo	Yes	3(23.1)	0.95	0.23–3.94
Head and brain (N = 12)	Any mutation	No	2(3.0)	Ref.
	Any mutation	Yes	10(16.7)	6.39	1.34–30.47
	Loss of function	No	5(5.4)	Ref.
	Loss of function	Yes	7(20.6)	4.50	1.32–15.35
	De novo	No	9(8.0)	Ref.
	De novo	Yes	3(23.1)	3.46	0.79–15.23
Urinary system (N = 14)	Any mutation	No	4(6.1)	Ref.
	Any mutation	Yes	10(16.7)	3.09	0.91–10.50
	Loss of function	No	10(10.9)	Ref.
	Loss of function	Yes	4(11.8)	1.08	0.31–3.73
	De novo	No	13(11.5)	Ref.
	De novo	Yes	1(7.7)	0.54	0.06–4.64
Heart (N = 18)	Any mutation	No	10(15.2)	Ref.
	Any mutation	Yes	8(13.3)	0.85	0.31–2.32
	Loss of function	No	12(13.0)	Ref.
	Loss of function	Yes	6(17.6)	1.42	0.48–4.16
	De novo	No	17(15.0)	Ref.
	De novo	Yes	1(7.7)	0.40	0.05–3.39

ISSN: 1866-1955