Table 3. Chromosomal microarray analysis using SNP array testing of samples with normal karyotypes.
| Case | Microarray nomenclature | Size (Mb) | Phenotypic characteristics of fetuses | Pathogenicity classification | Obstetric outcomes | Inheritance |
| 1 | arr[hg19]22q11.21 (18,916,842-21,800,471) ×1 | 2.9 | CHD | P | TP | de novo |
| 2 | arr[hg19]22q11.21 (18,648,855-21,800,471) ×1 | 3.1 | CHD | P | TP | de novo |
| 3 | arr[hg19]22q11.21 (18,648,855-21,800,471) ×1 | 3.1 | CHD, thymic dysplasia | P | TP | de novo |
| 4 | arr[hg19]22q11.21 (18,649,189-21,800,471) ×1 | 3.1 | CHD | P | TP | de novo |
| 5 | arr[hg19]22q11.21 (18,648,855-21,800,471) ×1 | 3.1 | CHD | P | TP | de novo |
| 6 | arr[hg19]22q11.21 (20,730,143-21,800,471) ×1 | 1.0 | Multiple cysts of left choroid plexus, left renal cysts, and varus | P | TP | de novo |
| 7 | arr[hg19]17q12 (34,822,465-36, 404, 555) ×1 | 1.58 | Double kidney echo enhancement | P | TP | de novo |
| 8 | arr[hg19]17q12 (34,822,465-36, 243, 365) ×1 | 1.4 | Double kidney echo enhancement | P | TP | de novo |
| 9 | arr[hg19]17q12 (34,822,465-36, 307, 773) ×1 | 1.48 | Double kidney echo enhancement | P | TP | Maternal |
| 10 | arr[hg19]16p11.2 (28,810,324-29,032,280)×1 | 0.22 | Lateral ventricle widens | P | TP | de novo |
| 11 | arr[hg19]16p11.2 (29,567,296-30,190,029)×1 | 0.6 | Lateral ventricle widens | P | TP | de novo |
| 12 | arr[hg19]16p11.2 (29,591,326-30,176,508)×1 | 0.57 | Hydrocephalus | P | TP | de novo |
| 13 | arr[hg19]3q29 (195,743,957-197,386,180) ×3 | 1.6 | VSD | P | TP | de novo |
| 14 | arr[hg19]4p16.3 p16.1 (68,345-6,608,624)×1 | 6.5 | CHD | P | TP | de novo |
| 15 | arr[hg19]5q35.2q35.3 (175,416,095-177,482, 506) ×1 | 2.0 | Lateral ventricle widens | P | TP | de novo |
| 16 | arr[hg19]7q11.23 (72,723,370-74,143,240)×1 | 1.42 | FGR | P | TP | de novo |
| 17 | arr[hg19]7q11.23 (72,701,098-74,069,645)×3 | 1.3 | VSD, Unilateral renal agenesis | P | TP | de novo |
| 18 | arr[hg19]10q11.22q11.23 (46,252,072-51,903,756) ×1 | 5.6 | FGR | P | TP | de novo |
| 19 | arr[hg19]15q14q21.3 (35,077,111-54,347,324)hmz | 19.2 | FGR | P | TP | UPD |
| 20 | arr[hg19]15 q13.3 (32,011,458-32,914,239)×3 | 0.88 | Half vertebral body | P | TP | Paternal |
| 21 | arr[hg19]17p12 (14,083,054-15,482,833) ×1 | 1.4 | Left renal dysplasia | P | TP | Maternal |
| 22 | arr[hg19]15q11.2 (22,770,421-23,277,436)×1 | 1.2 | VSD, Brain dysplasia | P | TP | paternal |
| 23 | arr[hg19]17p13.3p13.2 (525-5,204,373)×1 | 5.2 | Bilateral ventricles widened, cerebellum entricular dysplasia | P | TP | de novo |
| 24 | arr[hg19]22q13.33 (49,683,904-51,197,766) ×1 | 3.1 | Echogenic bowel | P | TP | de novo |
| 25 | arr[hg19]16p13.11 (15,510,512-16,309,046)×3 | 0.78 | Tricuspid regurgitation | VOUS | TD | - |
| 26 | arr[hg19]1q21.1 (145,375,770-145,770,627)×1,9p24.1 (4,623,660-5,501,699) ×3 | 0.68,0.86 | Lateral ventricle widens | VOUS | TD | de novo |
| 27 | arr[hg19]1q21.1q21.2 (145,995,176-147,398,268)×3 | 1.4 | CHD | VOUS | TP | de novo |
| 28 | arr[hg19]1q21.1q21.2 (145,958,361-147,830,830)×3 | 1.8 | Lateral ventricle widens | VOUS | TD | de novo |
| 29 | arr[hg19]2q22.2 (143,043,284-143,866,399)×4 | 0.80 | Effusion | VOUS | TD | de novo |
| 30 | arr[hg19]2q36.1q36.2 (224,459,152-225,330,583)×3 | 0.85 | Posterior fossa widened | VOUS | TD | de novo |
| 31 | arr[hg19]2q11.1q11.2 (96,679,225-97,669,032)×1 | 0.97 | Hydronephrosis | VOUS | TD | de novo |
| 32 | arr[hg19]3p26.3 (1,855,754-2,663,625)×1 | 0.79 | Bilateral ventricles widened | VOUS | TD | - |
| 33 | arr[hg19]3q26.1q29(163,256,369-197,791,601)hmz,5p13.1p11 (41,029,137-46,313,469)hmz,6q24. 2q25(143,341,406-161,527,784) hmz,12q13.2q21.2(56,011,100-77,134,151)hmz,17q21.2q21.32(39,639,602-45,479,706)hmz,21q21. 3q22.2(28,124,165-42,352,287)hmz | 99.1 | Lateral ventricle widens | VOUS | TD | - |
| 34 | arr[hg19]3p22.1 (42,875,130-43,309,436)×1 | 0.42 | Lateral ventricle widens | VOUS | TD | de novo |
| 35 | arr[hg19]3q28(188,788,120-191,331,505) ×1,15q11.2(23,620,191-24,978,547) ×3 | 2.5 | Unilateral renal agenesis | VOUS | TD | de novo |
| 36 | arr[hg19]3p22.3 (33,805,560-35,318,562)×3 | 1.5 | Effusion | VOUS | TD | Maternal |
| 37 | arr[hg19]5p15.33p15.31 (4,482,234-6,636,035)×1 | 0.61 | Effusion | VOUS | TP | de novo |
| 38 | arr[hg19]4q28.3q31.3 (133,718,289-154,569,367)hmz | 20.8 | FGR | VOUS | TD | de novo |
| 39 | arr[hg19]4q24(106,284,925-107,545,257)×3 | 1.2 | VSD | VOUS | TD | de novo |
| 40 | arr[hg19]8p23.2(3,703,883-5,940,433) ×3 | 2.2 | Bilateral choroid plexus cysts | VOUS | TD | de novo |
| 41 | arr[hg19]10q24.31Q24.32 (102,972,457-103,179,063)×3 | 0.20 | Posterior fossa widened | VOUS | TD | de novo |
| 42 | arr[hg19]10q11.21q11.22 (42,433,738-48,006,310) ×1 | 5.5 | Echogenic bowel | VOUS | TD | de novo |
| 43 | arr[hg19]13q14.3 (52,649,105-53,172,866) ×3 | 0.53 | Hydronephrosis | VOUS | TD | de novo |
| 44 | arr[hg19]14q21.2q21.3 (46,782,405-49,288,860) ×1 | 2.5 | Hydrocephalus | VOUS | TP | de novo |
| 45 | arr[hg19]15q11.2 (22,770,421-23,082,237)×1 | 0.30 | Ultrasound soft markers | VOUS | TD | de novo |
| 46 | arr[hg19]15q11.2 (22,770,421-23,286,423)×1 | 0.5 | Ultrasound soft markers | VOUS | TD | Paternal |
| 47 | arr[hg19]15 q13.3 (31,999,631-32,444,043)×3 | 0.43 | Severe hydrocephalus | VOUS | TP | de novo |
| 48 | arr[hg19]15 q13.3 (32,003,537-32,444,043)×3 | 0.43 | CHD | VOUS | TP | de novo |
| 49 | arr[hg19]16p13.11 (15,325,072-16,272,403)×3 | 0.92 | Bilateral hydronephrosis | VOUS | TP | de novo |
| 50 | arr[hg19]16p13.11 (15,171,146-16,309,046)×3 | 1.1 | Echogenic bowel | VOUS | TD | Maternal |
| 51 | arr[hg19]16p13.11 (14,897,401-16,534,031)×1 | 1.6 | VSD | VOUS | TD | de novo |
| 52 | arr[hg19]16p11.2 (29,580,020-30,190,029)×1 | 0.60 | Spinal dysplasia | VOUS | TP | de novo |
| 53 | arr[hg19]17q21.31 (41,774,473-42,491,805)×4 | 0.70 | FGR | VOUS | TD | de novo |
| 54 | arr[hg19]22q11.21 (18,648,855-21,459,713) ×3 | 2.8 | CHD | VOUS | TP | Maternal |
| 55 | arr[hg19]22q11.21 (18,648,855-21,800,471) ×3 | 3.1 | FGR | VOUS | TD | Paternal |
| 56 | arr[hg19]Xp21.1 (32,670,116-32,891,702) ×1 | 0.22 | Effusion | VOUS | TD | de novo |
CHD: Congenital heart disease; FGR: fetal growth restriction; NIPT noninvasive prenatal testing; P: pathogenic; TD: term delivery; TP: termination of pregnancy; UPD: uniparental disomy; VSD: ventricular septal defect.