Table 1.
Ultrasound findings and outcome in the cases with absent ductus venosus or abnormal portal system development.
| No | MA | GA | DV | Umbilical Drainage | PVS | Additional Sonographic Findings | Genetics | Outcome |
|---|---|---|---|---|---|---|---|---|
| 1 | 27 | 18 | ADV | intrahepatic | N | SUA | Normal karyotype | Good at birth and at 6 months follow-up |
| 2 | 32 | 18 | ADV | intrahepatic | N | EIF | Normal karyotype | Good at birth and at 6 months follow-up |
| 3 | 30 | 20 | ADV | intrahepatic | N | IIVC | Normal karyotype | Good at birth and at 6 months follow-up |
| 4 | 28 | 18 | ADV | intrahepatic and extrahepatic |
N | Hygroma SUA Thymus agenesis Ascites Pleural effusion |
Normal QF-PCR and array CGH | IUFD |
| 5 | 29 | 18 | ADV | intrahepatic | N | - | Normal karyotype and QF-PCR | Good at birth and at 6 months follow-up |
| 6 | 25 | 20 | ADV | intrahepatic | N | - | Normal karyotype | Good at birth and at 6 months follow-up |
| 7 | 38 | 19 | ADV | intrahepatic | N | - | Normal karyotype | Good at birth and at 6 months follow-up |
| 8 | 28 | 18 | ADV | intrahepatic | N | - | Normal karyotype | Good at birth and at 6 months follow-up |
| 9 | 36 | 23 | ADV | intrahepatic | N | - | Normal karyotype | Good at birth and at 6 months follow-up |
| 10 | 27 | 26 | ADV | extrahepatic | TPVSA | PLSVC Esophageal atresia |
Normal karyotype | Good at birth Growth and motor retard at 6 months follow-up |
| 11 | 33 | 20 | ADV | extrahepatic | TPVSA | EIF Small stomach |
T21 | TOP |
| 12 | 29 | 30 | ADV | intrahepatic | PPVSA | IUGR Hypercoiled umbilical cord |
Normal karyotype | Good at birth Growth and motor retard at 6 months follow-up |
| 13 | 25 | 20 | Normal | Intrahepatic | PPVSA | - | Normal karyotype | Good at birth Growth and motor retard at 6 months follow-up |
| 14 | 31 | 28 | ADV | intrahepatic | PPVSA | Aorto-ombilico-hepatic fistula Cardiac failure Dilated IVC |
Normal QF-PCR | NND |
| 15 | 25 | 24 | ADV | extrahepatic | PPVSA | Bilateral short humerus Unilateral absence of the radius Syndactyly Gallbladder agenesis ASD |
T21 | No follow up |
| 16 | 34 | 33 | ADV | intrahepatic | N | Thoracoabdominal schisis Mitral valve atresia IIVC |
Normal karyotype | NND |
| 17 | 25 | 16 | ADV | extrahepatic | TPVSA | Hypoplastic left heart syndrome DORV; Nasal hypoplasia |
T21 | IUFD |
| 18 | 28 | 24 | ADV | intrahepatic | N | Duodenal atresia SUA Right aortic arch IUGR |
mos 47, XY, +mar [15]/46,XY [38]. | Growth and motor retard at 6 months follow up |
| 19 | 26 | 20 | ADV | intrahepatic | N | RAA Fetal cardiac asymmetry Hypocoiled Umbilical Cord AAH Hyperechogenic bowel Thicken Nuchal Fold Increased prenasal thickness |
45X | TOP |
MA, maternal age; GA, gestational age; DV, ductus venosus; ADV, ductus venosus agenesis; PVS, portal venous system; IVC, inferior vena cava; TPVSA, total portal venous system agenesis; PPVSA, partial portal venous system agenesis; SUA, single umbilical artery; EIF, echogenic intracardiac focus; IIVC, interrupted inferior vena cava; PLSVC, persistent left superior vena cava; TOP, termination of pregnancy; GB, good at birth; IUFD, intrauterine fetal death; IUGR, intrauterine growth restriction; DORV, double outlet of the right ventricle; ASD, atrial septal defect; RAA, right aortic arch; AAH, aortic arch hypoplasia; 45X, Turner Syndrome; T21, Trisomy 21; NND, neonatal death; QF-PCR, quantitative fluorescent polymerase chain reaction; array CGH, array comparative genomic hybridization; N, normal.