Table 1.
Overview of 11 cases with detected CNVs
| Cases | Ultrasound anomalies | NIPT results | CNV‐seq results | Karyotype | Pathogenicity | Concordance |
|---|---|---|---|---|---|---|
| SJ023 | Hydroderma |
chr13q12.11‐q14.3: (21900000‐54399999) X3;32.5 Mb |
Negative | 46,XY |
False Positive |
|
| SJ015 | VSD | Negative |
chr4q26‐q31.21: (117480001‐145140000) X2.5;27.66 Mb |
47,XX,+mar[23]/46,XX[21] | Uncertain |
False Negative |
| SJ028 | Increased NT | Negative |
chr10p15.3‐p13: (148206‐12446689) X1;12.29 Mb |
46,XY,del(10)(p16) | Pathogenic |
False Negative |
| SJ027 | Cystic hydroma; absence of nasal bone; VSD; renal dysplasia |
chr4p16.3‐p15.2: (300000‐26099999) X1;25.8 Mb chr4q34.3‐q35.2: (178300000‐190599999) X3;12.3 Mb |
chr4p16.3‐p15.2: (40001‐26080000) X1;26.04 Mb chr4q34.3‐q35.2: (178340001‐190360000) X3;12.02 Mb |
46,XX, rec(4)dup(4q)inv(4) (p15.3q34)pat |
Pathogenic, involved Wolf‐Hirschhorn Syndrome Pathogenic |
True Positive |
| SJ036 | VSD; AS |
chr4q13.3‐q22.2: (71500001‐94900000) X1;23.4 Mb |
chr4q13.3‐q22.3: (71240001‐97900000) X1;26.66 Mb |
46,XY, der(4)t(4;13)(q22;q13)del(4)(q13q22)mat |
Pathogenic |
True Positive |
| SJ041 | SUA; polyhydramnios |
chr9p24.3‐p24.2: (190001‐4090000) X1;3.9 Mb chr11p15.5‐p15.1: (180001‐18080000) X3;17.9 Mb |
chr9p24.3‐p24.2: (200001‐3920000) X1;3.72 Mb chr11p15.5‐p15.1: (180001‐18120000) X3;17.94 Mb |
46,XX, der(9)t(9;11)(p24;p15)pat |
Pathogenic Pathogenic |
True Positive |
| SJ047 | Ventriculomegaly |
chr1p36.32‐p36.23: (810001‐9010000) X1;8.2 Mb |
chr1p36.33‐p36.23: (820001‐9140000) X1;8.32 Mb |
46,XY,t(1;9)(p36;q12) |
Pathogenic involved 1p36 microdeletion syndrome |
True Positive |
| SJ101 | VSD;AS |
chr9p24.3‐p23: (310001‐12110000) X1;11.8 Mb |
chr9p24.3‐p23: (200001‐12940000) X1;12.74 Mb |
Unavailable | Pathogenic |
True Positive |
| SJ001 | Cystic hydroma; hydroderma |
chrYp11.3‐p11.1: (1000‐11400000) X1;11.39 Mb |
chrYp11.3‐p11.1: (1‐11600000) X1;11.6 Mb |
Unavailable | Pathogenic |
True Positive |
| SJ022 | ASD |
chr22q11.1‐q11.21: (17400000‐21499999) X3;4.1 Mb |
chr22q11.1‐q11.21: (16840001‐21460000) X3;4.62 Mb |
47,XY,+mar |
Pathogenic involved 22q11 duplication syndrome |
True Positive |
| SJ103 | TOF |
chr17p13.3‐p13.2:（10000‐3530000); X1;3.52 Mb |
chr17p13.3‐p13.2:（1‐3400000); X1;3.4 Mb |
46,XX |
Pathogenic involved Miller‐Dieker syndrome (MDS) |
True Positive |
Abbreviations: AS, aortic stenosis; ASD, atrial septal defect; CNVs, copy number variations; CNV‐seq, copy number variation sequencing; Mb, Megabyte; NIPT, non‐invasive prenatal testing; SUA, single umbilical artery; TOF, tetralogy of Fallot; VSD, ventricular septal defect.