Table 2.

Pathogenic/likely pathogenic CNVs identified in the fetuses enrolled using chromosomal microarray analysis.

Cases	CMA results	Size	Origin	Pathogenicity	Prenatal ultrasound examination results	Pregnancy outcome
Case 1	arr[GRCh37] 13q31.1q34(86,495,307_115,107,733) × 1	28.6 Mb	/	P	Holoprosencephaly	TOP
Case 2	arr[GRCh37] 7q32.1q36.3(128,688,836_159,119,707) × 3; arr[GRCh37] 10q26.2q26.3(128,005,413_135,426,386) × 1	30.4 Mb; 7.4 Mb	/	P; P	Hydrocephalus	TOP
Case 3	arr[GRCh37] 1p36.33p36.31(849,467_5,866,441) × 1	5.0 Mb	/	P	Ventriculomegaly	TOP
Case 4	arr[GRCh37] 13q31.3q34(92,396,250_115,107,733) × 4	22.7 Mb	/	P	Dysplasia of corpus callosum, dysplasia of vermis cerebelli, smaller left eyeball, abnormal finger posture	TOP
Case 5	arr[GRCh37] 4p16.3p16.2(68,345_5,440,181) × 1, arr[GRCh37] 4p16.2p15.1(5,447,464_34,170,864) × 3	5.3 Mb; 28.7 Mb	/	P; P	Dysplasia of vermis cerebelli, right renal agenesis, and skeleton anomalies	TOP
Case 6	arr[GRCh37] 7q11.23(72,723,370_74,154,209) × 1	1.4 Mb	De novo	P	Dysplasia of corpus callosum	TOP
Case 7	arr[GRCh37] 1q21.1q21.2(145,895,747_147,830,830) × 1	1.9 Mb	Maternal	P	Dysplasia of corpus callosum	TOP
Case 8	arr[GRCh37] 15q11.2(22,770,422_23,277,436) × 1	507.0 Kb	/	P	Spina bifida, omphalocele, abdominal wall defect	TOP
Case 9	arr[GRCh37] 2p25.3p24.1(12,771_20,231,217) × 3	20.2 Mb	/	P	Spina bifida, abnormal curvature of the sacrum	TOP

P pathogenic, TOP termination of pregnancy, CMA chromosomal microarray analysis.