Table 1.

Frequency and Clinical Interpretation of Copy Number Variants in Study Group (Ultrasonographic Anomaly) and Control Group (Advanced Maternal Age)

Indication	Normal Karyotype	Common Benign	Pathogenic	Variants of Unknown Significance		Total Known Pathogenic and VOUS	Total Other Than Common Benign
				Likely Benign	Potential for Clinical Significance	With Potential For Clinical Significance
		(a)	(b)	(c)	(d)	(b+d)	(b+c+d)
Anomaly on ultrasound	752	247 (32.8%)	21 (2.8%)	16 (2.1%)	24 (3.2%)	45 (6.0%)	61(8.1%)
			(1.6 –4.0)	(1.1 – 3.2)	(1.9 – 4.5)	(4.3 – 7.7)	(6.2 – 10.1)
Advanced maternal age	1966	628(31.9%)	9 (0.5%)	37 (1.9%)	25 (1.3%)	34 (1.7%)	71(3.6%)
			(0.2 – 0.8)	(1.3 – 2.5)	(0.8 – 1.8)	(1.2 – 2.3)	(2.8 – 4.4)
P-value*			<0.001	0.679	<0.001	<0.001	<0.001

Data are n, n (%), or 95% CI unless otherwise specified. VOUS, variants of unknown significance; CI, confidence interval.

(a) common benign, (b) pathogenic, (c) VOUS – likely benign, (d) VOUS- potential for clinical significance

^*P-values are based on a comparison of the proportion of cases with copy number variants in the ultrasonographic anomaly and advanced maternal age study groups.