Table 3.
Retrospective cohort of fetuses with isolated CVM.
| Case | Sex | Intracardiac Anomaly | Extracardiac Anomaly | CMA | Soft Markers or Fluid Anomaly |
Mode of Conception |
|---|---|---|---|---|---|---|
| 1 | M | PS | --- | N | --- | S |
| 2 | F | VSD | --- | N | --- | S |
| 3 | M | L-TGA | --- | N | --- | S |
| 4 | F | TOF | --- | del21q21.1q21.3 (10.7 Mb) | --- | S |
| 5 | M | muscular VSD | --- | N | --- | S |
| 6 | M | VSD | --- | N | --- | S |
| 7 | M | TA type 2 | --- | N | choroid plexus cyst | S |
| 8 | F | AVC, TGA, PS | --- | N | --- | S |
| 9 | F | Tricuspid Atresia | --- | N | --- | S |
| 10 | F | HLHS | --- | N | --- | S |
| 11 | F | Univentricular Heart | --- | N | --- | S |
| 12 | F | PA-IVS | --- | N | --- | S |
| 13 | F | left interatrial membrane | --- | 21q22.3(47663694-47931362) × 3 mat | choroid plexus cyst | S |
| 14 | M | --- | RAA | N | --- | S |
| 15 | F | --- | RAA | 1q42.3(235810562-236471639) × 3 pat 4q13.2q13.3(70405132-70917149) × 1 pat |
--- | S |
| 16 | F | aortic valve stenosis | --- | N | --- | S |
| 17 | F | --- | RAA | N | --- | S |
| 18 | M | muscular VSD | --- | 1q25.1(173390879-173855070) × 3 pat | choroid plexus cyst | S |
| 19 | M | D-TGA | --- | N | --- | S |
| 20 | M | --- | RAA | N | --- | S |
| 21 | M | TOF | RAA, disc PAs | N | choroid plexus cyst | S |
| 22 | F | VSD | --- | 9q34.3(139362970-139432609) × 3 pat 17p12(14700924-15257475) × 3 pat |
hyperechogenic bowel | S |
| 23 | F | --- | RAA | N | --- | S |
| 24 | F | TOF | --- | N | --- | ICSI |
| 25 | M | PA-VSD | --- | 22q11.2(18651614-21464119)x1 | increased nuchal translucency | S |
| 26 | F | dysplastic mitral valve | --- | N | --- | S |
| 27 | M | TA type 1° | --- | N | --- | S |
| 28 | F | hypoplastic aortic valve | hypoplastic aorta | N | --- | S |
| 29 | M | VSD | hypoplastic LPA, PLSVC | Xp11.23(590 kb) × 3 mat | --- | S |
| 30 | M | subaortic VSD, overriding aorta |
ARSA, PLSVC (absent right SVC) |
N | --- | S |
| 31 | M | TOF | --- | N | --- | S |
| 32 | M | PA-IVS | --- | N | --- | S |
| 33 | M | --- | DAA | N | --- | S |
| 34 | M | VSD | --- | N | short femur length, borderline ventriculomegaly | S |
| 35 | F | endocardial fibroelastosis, aortic stenosis | --- | N | --- | S |
| 36 | M | PA-VSD | RAA | N | --- | S |
| 37 | M | TOF | --- | N | --- | ICSI |
| 38 | M | VSD | hypoplastic aortic arch, PLSVC | N | polyhydramnios | S |
| 39 | M | subaortic VSD | --- | 4q31.22q31.23(148380556-148787969) × 3 pat | --- | S |
| 40 | M | --- | ARSA | N | --- | S |
| 41 | F | D-TGA, Tricuspid atresia | hypoplastic aortic arch | N | --- | FIVET |
| 42 | F | pAVC | --- | N | --- | S |
| 43 | M | tricuspid dysplasia | --- | N | --- | S |
| 44 | F | muscular VSD | RAA, ALSA | N | --- | FIVET |
| 45 | M | L-TGA, VSD, PS | hypoplastic aortic arch | N | --- | S |
| 46 | F | AVC | hypoplastic aortic arch | N | --- | FIVET |
| 47 | F | muscular VSD | --- | N | --- | S |
| 48 | M | --- | aortic dextroposition, aortic kinking | N | --- | S |
| 49 | M | TOF | --- | N | --- | S |
| 50 | M | --- | vascular ring (RAA and LDA), ALSA | N | --- | S |
| 51 | M | apical muscular VSD | --- | N | --- | S |
| 52 | F | --- | RAA, ALSA, Kommerell diverticulum | N | --- | S |
| 53 | F | subaortic and muscular VSDs | --- | N | --- | S |
| 54 | M | muscular VSD | --- | N | --- | S |
| 55 | F | subaortic VSD | --- | N | --- | S |
| 56 | F | --- | RAA, ALSA, Kommerell diverticulum | N | --- | S |
| 57 | M | TOF, APV | --- | N | --- | S |
| 58 | M | VSD | narrowing of aortic isthmus, PLSVC | N | --- | S |
| 59 | M | HLHS | --- | N | --- | S |
ARSA: aberrant right subclavian artery; AS: aortic stenosis; AVC: atrioventricular canal; AVSD: atrioventricular septal defect; CMA: chromosomal microarray analysis; CVM: cardiovascular malformation; DAA: double aortic arch; D-TGA: dextro-transposition of the great arteries; DORV: Double outlet right ventricle; FIVET: fertilization in vitro embryo transfer; HLHS: hypoplastic left heart syndrome; IAA: interrupted aortic arch; ICSI: intracitoplasmic sperm injection; L-TGA: levo-transposition of the great arteries; PA: pulmonary atresia; PAVSD: pulmonary atresia with ventricular septal defect; PLSVC: persistent left superior vena cava; PS: pulmonary stenosis; RAA: right aortic arch; RV: right ventricle; RVOTD: right ventricular outflow tract defect; RSD: right sided defect; TA: tricuspid atresia; TOF: tetralogy of Fallot; TGA: transposition of the great arteries; US: ultrasound; VR: vascular ring; VSD: ventricular septal defect; VUS: variants of uncertain significance.