TABLE 2.

Detection rate of chromosomal aberration, CNV and SV in fetuses with isolated VSD.

References	Genetic testing	Total number of testing	Positive genetic diagnosis n(%)	Chromosomal aberrations n(%)	CNV n(%)	SV n(%)
Lee et al. (2016)	Karyotype	112	2 (1.79)	2 (1.79)
Fu et al. (2017)	CMA	73	4 (5.48)		4 (5.48)
Du et al. (2016)	CMA	22	1 (4.55)		1 (4.55)
Maya et al. (2020)	CMA	568	8 (1.41)	1 (0.18)	7 (1.23)
Cai et al. (2018)	Karyotype, CMA	79	2 (2.53)	1 (1.27)	1 (1.27)
Svirsky et al. (2019)	Karyotype, CMA	30	2 (6.67)	1 (3.33)	1 (3.33)
Vedel et al. (2021)	Karyotype, CMA	76	1 (1.32)	0 (0.00)	1 (1.32)
Bahtiyar et al. (2008)	Karyotype	16	1 (6.25)	1 (6.25)
Shen et al. (2014)	Karyotype	92	1 (1.09)	1 (1.09)
Wang et al. (2023c)	QF-PCR, CMA, ES	133	7 (5.26)	2 (1.50)	4 (3.01)	1 (8.33, in 12 cases)
Erol et al. (2014)	Karyotype	18	0 (0.00)	0 (0.00)
Gordin Kopylov et al. (2022)	CMA	30	0 (0.00)		0 (0.00)
Raucher Sternfeld et al. (2022)	Karyotype, CMA	23	0 (0.00)	0 (0.00)	0 (0.00)
Cheng et al. (2022)	QF-PCR, karyotype, CMA	170	9 (5.29)	2 (1.18)	7 (4.12)
Qiao et al. (2021)	CMA, ES	102	23 (22.55)	10 (9.80)	7 (6.86)	6 (5.88)
Gómez et al. (2014)	Karyotype, FISH	248	3 (1.21)	3 (1.21)
Mosimann et al. (2014)	Karyotype	33	0 (0.00)	0 (0.00)
Gedikbaşı et al. (2010)	Karyotype	18	1 (5.56)	1 (5.56)
Cho et al. (2017)	Karyotype	37	4 (10.81)	4 (10.81)
Chau et al. (2018)	Karyotype	129	9 (6.98)	9 (6.98)
Li et al. (2016)	Karyotype	80	9 (11.25)	9 (11.25)
Paladini et al. (2000)	Karyotype	45	12 (26.67)	12 (26.67)
Axt-Fliedner et al. (2006)	Karyotype	76	25 (32.89)	25 (32.89)
Selhorst et al. (2024)	Karyotype, CMA	43	14 (32.56)	9 (20.93)	3 (6.98)
Lu et al. (2024)	Karyotype, CMA	219	14 (6.39)	5 (2.28)	9 (4.11)
Zhao et al. (2024)	Karyotype, CNV-seq	45	0 (0.00)	0 (0.00)	0 (0.00)

CMA, chromosomal microarray analysis; CNV, copy number variant; ES, exome sequencing; FISH, fluorescence in situ hybridization; QF-PCR, quantitative fluorescence polymerase chain reaction; SV, sequence variant.