Molecular Cytogenetics

Table 4 Classification of true positive CNV and pregnancy outcome

From: Clinical application of noninvasive prenatal testing in the detection of fetal chromosomal diseases

No	Sample number	Age (years)	Gestational weeks	NIPT results	Karyotype results	CMA results and classification	Pregnancy outcome
1	19AH03422	30	16⁺³	2q12.1q12.3 duplicate 2.50 Mb	46,XN	2q12.1q12 .3duplicate 2.51 Mb, VOUS	Delivery, normal
2	19AH05194	25	16⁺⁷	3p26.3 duplicate 2.50 Mb	46,XN	3p26.3 duplicate 2.21 Mb, Likely pathogenic	Delivery, normal
3	20AH01147	35	18⁺²	2q13 lose 2.00 Mb	46,XN	2q13 lose 2.12 Mb, Likely pathogenic	Delivery, normal
4	20AH00928	36	16⁺⁶	8q23.3-8q24 duplicate 29.00 Mb	Refused	8p23.3 lose 1.86 Mb, 8p23.3p23.1 duplicate 4.92 Mb, 8p23.1p12 lose 24.84 Mb, 8p12q24.3 duplicate 113.39 Mb, Pathogenic	Induced labor
5	20AH02333	26	13⁺⁴	18q12.3 duplicate 2.00 Mb	46,XN	18q12.3duplicate 1.03 Mb, VOUS	Delivery, normal
6	20AH01774	26	21⁺¹	5p15.33-p14.3 duplicate 1.32 Mb, 5q31.1-q35.3 duplicate 1.23 Mb	46,XN	3p26.3duplicate 1.15 Mb, VOUS	Delivery, normal
7	20AH02846	25	17⁺⁶	5p15.33-p14.3 lose 19.50 Mb	46,XX, del(5) (p14)	5p15.33-p14.3 lose 22.5 Mb, Pathogenic	Induced labor
8	AB198R82670	37	17⁺⁵	6p12.3-6p12.1 lose 4.60 Mb	46,XN	6p12.36p12.1duplicate 4.36 Mb, VOUS	Delivery, normal
9	AB198R94013	26	18⁺¹	18p11.32-18p11.21 lose 14.85 Mb	46,XN	11q21q22.1 duplicate 1.89 Mb, VOUS	Delivery, normal
10	AB19HG00152	32	19⁺³	22q11.21-22q11.21 duplicate 1.35 Mb	46,XN	22q11-21 duplicate 2.35 Mb, Pathogenic	Induced labor
11	AB198R04444	25	18⁺¹	17p12 lose 2.50 Mb	46,XN	17p12 lose 1.42 Mb, Pathogenic	Delivery, normal
12	AB198R02692	34	21⁺²	3q26.33-3q27.1 duplicate 3.35 Mb	46,XN	3q26.q27.1duplicate 3.29 Mb, VOUS	Delivery, normal
13	AB198R02616	36	17⁺⁰	16p13.11-p12.3 duplicate 3.60 Mb	46,XN	16p13.11p12.3 duplicate 2.67 Mb, Likely pathogenic	Delivery, normal
14	AB19HG03892	28	14⁺⁶	12p11.21-12q12 duplicate 9.85 Mb	46,XN	12p11.21p11.1-12q11q12 duplicate 2.49 Mb, VOUS	Continued pregnancy
15	AB198R02189	38	20⁺⁵	1q21.1q21.2 duplicate 3.00 Mb	46,XN	1q21.1q21.2duplicate 1.71 Mb, Pathogenic	Induced labor
16	AB198R02191	31	17⁺⁵	17p13.1-17p12 duplicate 4.60 Mb	46,XN	14q13.1 duplicate 550 kb, VOUS	Delivery, normal
17	20B0012795	20	18⁺⁴	8p22-p21.3 lose 5.21 Mb	46,XN	8p22p21.3 lose 3.81 Mb, VOUS	Delivery, normal
18	20B0018624	30	17⁺²	13q33.1-q33.3 lose 5.68 Mb	46,XN	13q33.1q33.3 lose 4.66 Mb, Likely pathogenic	Delivery, normal

NIPT, noninvasive prenatal testing; CMA, chromosome microarray analysis; VOUS, variant of uncertain significance

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