Table 3.
Chromosomal microarray analysis of VSD fetuses with normal karyotyping results
| Case | CMA results | Size (Mb) | Prenatal ultrasound | Pathogenicity classification | Obstetrical outcomes | Inheritance |
|---|---|---|---|---|---|---|
| 1 | arr[hg19]22q11.21(18,648,855-21,800,471) × 1 | 3.1 | VSD; RAA; vascular circle; ALSA | P (DiGeorge syndrome) | TP | de novo |
| 2 | arr[hg19]22q11.21(18,648,855-21,800,471) × 1 | 3.1 | VSD; ARA; PA; thymic hypoplasia | P (DiGeorge syndrome) | TP | de novo |
| 3 | arr[hg19]22q11.21(18,631,364-20,729,389) × 1 | 2.0 | VSD; thymic hypoplasia | P (DiGeorge syndrome) | TP | de novo |
| 4 | arr[hg19]22q11.21(18,648,855-21,800,471) × 1 | 3.1 | VSD; RAA | P (DiGeorge syndrome) | TP | de novo |
| 5 | arr[hg19]22q11.21(18,648,855-21,800,471) × 1 | 3.1 | VSD; ARSA; TR; LSVC; Single umbilical artery | P (Cat Eye Syndrome) | TP | de novo |
| 6 | arr[hg19]22q11.1q11.21(16,888,899-18,649,190) × 4 | 1.7 | VSD; ARSA; TR; LSVC; Single umbilical artery | P (Cat Eye Syndrome) | TP | de novo |
| 7 | arr[hg19]17p11.2(16,567,623-18,743,354) × 3 | 2.1 | VSD; PA; FGR | P (Potocki-Lupski Syndrome) | TP | de novo |
| 8 | arr[hg19]Xp28(152,713,658-153,421,838) × 3 | 0.69 | VSD; TR | P | TP | de novo |
| 9 | arr[hg19]3q24q25.1(143,476,996-151,222,561) × 1 | 7.7 | VSD; ocular hypertelorism; widening of lateral ventricle | P | TP | de novo |
| 10 | arr[hg19]15q24.1q24.2(72,965,465-75,567,135) × 1 | 2.6 | VSD; PA; FGR; Absence of nasal bone | P | TP | de novo |
| 11 | arr[hg19]3q29(195,743,957-197,386,180) × 3 | 1.6 | VSD | P | TP | de novo |
| 12 | arr[hg19]7q11.23(72,701,098-74,069,645) × 3 | 1.3 | VSD; Left kidney dysplasia | P | TP | de novo |
| 13 | arr[hg19]16q23.2q24.3(79,800,878-90,146,366)hmz,16p13.3p12.3(94,807-19,302,326)hmz | 10.3 | VSD; PVS; Left kidney dysplasia; FGR | P | TP | UPD |
| 14 | arr[hg19]11P15.1P14.3(20,745,930-21,780,075) × 3 | 1.0 | VSD; Right hydronephrosis; widening of left lateral ventricle | VOUS | TP | De novo |
| 15 | arr[hg19]4q24(106,284,925-107,545,257) × 3 | 1.2 | VSD; ARSA; FGR | VOUS | TD | De novo |
| 16 | arr[hg19]9q21.33q22.1(89,868,507-90,975,015) × 3 | 1.1 | VSD | VOUS | TD | De novo |
| 17 | arr[hg19]16p13.11(14,897,401-16,534,031) × 1 | 0.5 | VSD; Left ventricular hyperechoic | VOUS | TD | De novo |
| 18 | arr[hg19]2q31.2q31.3(180,558,684-181,901,189) × 3 | 0.5 | VSD; OFB | VOUS | TD | De novo |
| 19 | arr[hg19]5q14.1(76,983,283-77,512,158) × 3 | 0.5 | VSD | B | TD | Maternal |
| 20 | arr[hg19]10q21.1(59,095,330-60,684,488) × 1 | 1.5 | VSD; TR | B | TD | Maternal |
ALSA aberrant left subclavian artery, ARA aortic ride across, ARSA aberrant right subclavian artery, B benign, CMA chromosomal microarray analysis, CNVs copy number variations, FGR fetal growth restriction, LSVC left superior vena cava, OFB oval flaps bulging, P Pathogenic, PA pulmonary atresia, PVS pulmonary valve stenosis, RAA right aortic arch, TR tricuspid regurgitation, TD term delivery, TP termination of pregnancy, UPD uniparental disomy, VOUS variation of uncertain clinical significance, VSD ventricular septal defect, VC vascular circle