Table 1.

Examples of associated syndromic and isolated genetic anomalies by National Birth Defects Prevention Study lesion classification [20,22–24]

NBDPS lesion classification	Chromosomal anomalies	Copy number variants	Monogenic disruptions
Diagnostic test	Karyotype	Chromosomal microarray	Gene sequencing
Anomalous pulmonary venous return	Tetrasomy 22q	3q22.1q26.1 Del/Dup, 13q14.11 Dup, 15q11.2 Del	ANKRD1, GATA4, GJA1, NODAL, PDGFRA, ZIC3
Atrioventricular septal defects	Trisomy 21	3q22.1q26.1 Del/Dup, 8p23.1 Del/Dup, 15q11.2 Del, Xp22.2 Dup	ACVR1, CITED2, CRELD1, GATA4, GATA6, GJA1, NKX2.5, TBX5, TBX20
Complex lesions	Trisomy 13, Trisomy 18	11p15.5 Dup, 15q11.2 Del
Conotruncal lesions	Tetrasomy 22q	1q21.1 Del/Dup, 1p36 Deletion, 3p25.1 Dup, 3q22.1q26.1 Del/Dup, 4p16.3 Del, 4q22.1 Dup, 5p15.2 Del, 8p23.2 Del/Dup, 9q34.3 Del, 13q14.11 Dup, 19p13.3 Del/Dup, 22q11.2 Del, Xp22.2 Dup	ALDH1A2, CHD7, FOXH1, GATA4, GATA6, GDF1, HAND2, JAG1, MED13L, NKX2.5, NKX2.6, NOTCH2, SEMA3E, TBX1, TDGF1, ZFPM2
Heterotaxy		2p25.1 Dup, 3p24.1 Del, 22q11.2 Del, Xq26.2 Del	ACVR2B, CCDC11, CFC1, CRELD1, DNAH11, FOXH1, GDF1, LEFTY2, NKX2.5, NODAL, ZIC3
Left ventricular outflow tract obstructive lesions	Monosomy X	1q21.1 Del, 8p23.1 Del/Dup, 9q34.3 Del, 11p15.5 Dup, 11q23 Del, 13q14.11 Dup, 15q11.2 Del, 16p13.11 Dup	GATA5, GJA1, KDM6A, KMT2D, MYH6, NKX2.5, NOTCH1, TGFB2, TGFBR1, TGFBR2, VEGF
Right ventricular outflow tract obstructive lesions		1q21.1 Del/Dup, 4p16.3 Del	BRAF, CBL, GATA4, GATA6, HRAS, JAG1, KRAS, MAP2K1, MAP2K2, MEK1, NF1, NOTCH2, NRAS, PTPN11, RAF1, SOS1,
Septal lesions	Trisomy 13, Trisomy 18, Trisomy 21	1p36 Del, 4p16.3 Del, 5p15.2 Del, 8p23.1 Del/Dup, 11q23 Del, 18q11.1q11.2 Dup	CITED2, CREBBP, GATA4, GATA6, IRX4, NIPBL, NKX2.5, TBX5, TBX20, TDGF1

Del, deletion; Del/Dup, deletions and duplications; Dup, duplication; NBDPS, National Birth Defects Prevention Study.