Identification of copy number variations among fetuses with isolated ultrasound soft markers in pregnant women not of advanced maternal age

Table 3 PPV of NIPS for chromosomal abnormalities among the 6632 fetuses with soft markers

Ultrasound category	N (%)	Aneuploidy						CNVs
		High risk of NIPS	True positive			PPV (%, 95% CI)	p	High risk of NIPS	True positive		PPV (%, 95% CI)	p
		High risk of NIPS	T21	T18	SCA	PPV (%, 95% CI)	p	High risk of NIPS	P	VUS	PPV (%, 95% CI)	p
Multiple soft markers	192 (2.90)	0				–		3		1	33.33 (1.76–87.47)	1.000
EIF	5419 (81.71)	29	1		7	27.59 (13.45–47.49)	0.008^a	50	2	15	34.00 (21.59–48.86)	0.823
Mild ventriculomegaly	7 (0.11)	0				–		0			0
CPCs	605 (9.12)	3		3		100.00 (31.00–100.00)	0.115	3		1	33.33 (1.77–87.47)	1.000
Echogenic bowel	24 (0.36)	1	1			100.00 (5.46–100.00)	0.405	0			0
Mild pyelectasis	154 (2.32)	0				–		0			0
SUA	140 (2.11)	2		1		50.00 (2.67–97.33)	1.000	1		1	100.00 (5.46–100.00)	0.356
Absent or hypoplastic nasal bone	63 (0.95)	2	2			100.00 (19.79–100.00)	0.158	1			0
ARSA	28 (0.42)	0				–		1		1^b	100.00 (5.46–100.00)	0.356
Total (n)	6632	37	4	4	7	40.54 (25.20–57.81)		59	2	19	35.59 (23.87–49.20)

EIF echogenic intracardiac focus, CPCs choroid plexus cysts, SUA single umbilical artery, ARSA aberrant right subclavian artery, NIPS noninvasive prenatal screening, T21 trisomy 21, T18 trisomy 18, SCA sex chromosome aneuploidy, CNVs copy number variants, P pathogenic, VUS variant of uncertain significance, PPV positive predictive value, CI confidence interval
^aThe PPV of aneuploidies was significantly lower in fetuses with EIF than in other groups (p = 0.008)
^bIn Case 41 (Table 2), the prenatal diagnosis confirmed one non-concordant P CNV and one concordant VUS

ISSN: 1750-1172