Table 5.

Results of CNVs

	Findings on ultrasound	CMA	Size of CNVs (kb)	Pathogenicity
1	Tricuspid regurgitation	arr[GRCh37]16p13.12p13.11(14780640–16527659)x1	1747	Pathogenic
2	NT 3.8 mm	arr[GRCh37]3q29(195718751–197386180)x1	1667	Pathogenic
3	NT 5.3 mm	arr[GRCh37]16p11.2(29567296–30190029)x1	623	Pathogenic
4	NT 3.4 mm	arr[GRCh37]16p11.2(29351826–30190029)x1	838	Pathogenic
5	NT 3.2 mm	arr[GRCh37]15q11.2(22582283–23060000)x1	478	Pathogenic
6	Absent nasal bone	arr[GRCh37]Xp22.31(6537109–8167604)x1	1630	Pathogenic
7	Absent nasal bone	arr[GRCh37]17q12(36466620–37940921)x3,(21)×3	1470	Pathogenic
8	Tricuspid regurgitation	arr[GRCh37]12p13.33p11.23(173786-27350550)x4	27,177	Likely pathogenic
9	Choroid plexus cyst	arr[GRCh37]16p13.11(15077292–16178545)x3	1100	Likely pathogenic
10	Choroid plexus cyst	arr[GRCh37]16p13.11(14892976–16517413)x4	1620	Likely pathogenic