Prenatal Diagnosis and Outcome of Umbilical–Portal–Systemic Venous Shunts: Experience of a Tertiary Center and Proposal for a New Complex Type
Abstract
:1. Introduction
2. Materials and Methods
2.1. Study Design and Setting
2.2. Participants
2.3. Variables
2.4. Methods of Assessment
3. Results
3.1. Umbilical–Systemic Shunts (USS, Type I)
3.2. Ductus Venosus–Systemic Shunts (DVSS, Type II)
3.3. Portal–Systemic Shunts (IHPSS, Type III)
3.4. Complex Variants with Multiple Shunts (A Newly Described Category of UPSVS, Type IV)
3.5. Portal Venous System Characteristics in Relation to the Outcome
4. Discussion
4.1. Epidemiological Considerations
4.2. Early Detection
4.3. The Outcomes of UPSVS Types—Associated Structural Anomalies
4.4. Portal Venous System Implications
4.5. The Outcome of UPSVS Types—FGR
4.6. The Outcome of UPSVS Types—Genetics
4.7. Complex Variants with Multiple Shunts
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Case | GA (Weeks) | Type of Shunt | Drainage | DV | PVS | Additional Sonographic Findings | Outcome | Intrauterine Genetic Assessment |
---|---|---|---|---|---|---|---|---|
Current study 2017–2022 | ||||||||
1 | 13 | I | IVC | ADV | PPVSA | Hydrops | TOP | 45X |
2 | 13 | I | IVC | ADV | TPVSA | - | TOP | N |
3 | 24 | I | Cardiac | ADV | PPVSA | Bilateral short humerus Unilateral absence of the radius Syndactyly Gallbladder agenesis ASD | NO FOLLOW-UP | T21 |
4 | 26 | I | Cardiac | ADV | TPVSA | Persistent left superior vena cava esophageal atresia | Growth and motor retardation at 6 months | Invasive genetics declined |
5 | 16 | I | Cardiac | ADV | TPVSA | Hypoplastic left heart syndrome DORV; nasal hypoplasia | IUFD | T21 |
6 | 16 | I | HV | ADV | PPVSA | - | NO FOLLOW-UP | Invasive genetics declined |
7 | 15 | I | HV | ADV | TPVSA | Aorto umbilical fistula Hygroma | TOP | T21 |
8 | 13 | I | IVC | ADV | TPVSA | Hydrops | IUFD | Normal FISH |
9 | 15 | I | IVC | ADV | TPVSA | Hydrops Dextrocardia Aorto umbilical fistula Cheilognathopalatoschisis Ventriculomegaly | IUFD | Translocation 46,XX,add(12)(q24) |
10 | 20 | I | IVC | ADV | TPVSA | Aberrant right subclavian artery Small stomach | TOP | T 21 |
11 | 13 | II | HV | Short DV-like | N | - | GAB Good at 6 months follow-up | Invasive genetics declined |
12 | 20 | II | HV | Short DV-like | N | Interrupted inferior vena cava with hemizygous continuation | GAB Good at 6 months follow-up | N |
13 | 14 | II | HV | Short DV-like | N | Hypoplastic left heart syndrome Asymmetric diaphragm Club foot | TOP | N |
14 | 13 | II | IVC | Short DV-like | N | - | GAB Good at 6 months follow-up | Invasive genetics declined |
16 | 30 | IIIa | HV | ADV | N | FGR Hyper-coiled umbilical cord | GAB Good at 6 months follow-up | N |
17 | 28 | IIIa | HV | ADV | PPVSA | FGR Duodenal atresia Esophageal atresia Right aortic arch | Growth and motor retardation at 6 months | mos 47, XY, +mar [15]/46, XY [38] |
18 | 18 | IV | Complex drainage HV + IVC | short DV | N | Pleural effusion Cardiomyopathy FGR Mitral and tricuspid regurgitation | GAB neonatal death | Normal FISH |
19 | 13 | IV | Complex HV + cardiac | ADV | N | Hygroma SUA Thymus agenesis Ascites Pleural effusion | IUFD | N |
20 | 18 | IV | Complex IVC + HV | ADV | N | SUA Non-visible gallbladder Coarctation of the aorta | GAB Kabuki Syndrome motor retardation at 6 months follow-up | N |
The previous study, 2010–2013 | ||||||||
21 | 13+6 | IIIa | HV | ADV | N | - | GAB Good at 6 months follow-up | N |
22 | 13+3 | IIIa | HV | ADV | N | - | GAB Good at 6 months follow-up | N |
23 | 13 | I | IVC | ADV | N | Hydronephrosis | GAB Good at 6 months follow-up | N |
24 | 13 | I | IVC | ADV | N | Cystic hygroma Abnormal facial profile-flat face Hypertelorism (ST findings) Skeletal: short femur and humerus, abnormal hands and feet (ST findings) Pyelectasis (ST finding) Choanal hypoplasia (neonatal finding) Restrictive respiratory disease | GAB Poor neonatal outcome Sudden infant death at 2 months | 46 XY, 10p- |
25 | 13+5 | I | Cardiac | ADV | TPVSA | Cystic hygroma Renal pyelectasis Hypoplastic left heart | TOP | Invasive genetics declined |
26 | 11 | I | IVC | ADV | Not assessed (early termination) | Hydrops Atrio-ventricular septal defect Frontal bossing | TOP | N |
27 | 13+4 | I | Cardiac | ADV | TPVSA | Heterotaxy syndrome Pulmonary atresia Abnormal right subclavian artery Kyphoscoliosis | TOP ST | N |
28 | 13+2 | I | HV | ADV | PPVSA | Hydrops (ST finding) Hypoplastic left heart Single umbilical artery Short long bones (ST finding) | TOP ST | Invasive genetics declined |
29 | 12+6 | I | HV | ADV | PPVSA | Cystic hygroma Hydrops Hypoplastic left heart | TOP | 45 X |
30 | 11+1 | I | Cardiac | ADV | Not assessed (early termination) | Hydrops Univentricular heart Abnormal face Absent NB Holoprosencephaly Microcephaly Skeletal abnormalities: spinal deformities, distorted feet, arm micromelia Lateral body wall defect Absent bladder | TOP | N |
31 | 11+3 | I | Cardiac | ADV | Not assessed (early termination) | Hydrops Body-stalk syndrome | TOP | N |
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Nagy, R.D.; Iliescu, D.G. Prenatal Diagnosis and Outcome of Umbilical–Portal–Systemic Venous Shunts: Experience of a Tertiary Center and Proposal for a New Complex Type. Diagnostics 2022, 12, 873. https://doi.org/10.3390/diagnostics12040873
Nagy RD, Iliescu DG. Prenatal Diagnosis and Outcome of Umbilical–Portal–Systemic Venous Shunts: Experience of a Tertiary Center and Proposal for a New Complex Type. Diagnostics. 2022; 12(4):873. https://doi.org/10.3390/diagnostics12040873
Chicago/Turabian StyleNagy, Rodica Daniela, and Dominic Gabriel Iliescu. 2022. "Prenatal Diagnosis and Outcome of Umbilical–Portal–Systemic Venous Shunts: Experience of a Tertiary Center and Proposal for a New Complex Type" Diagnostics 12, no. 4: 873. https://doi.org/10.3390/diagnostics12040873
APA StyleNagy, R. D., & Iliescu, D. G. (2022). Prenatal Diagnosis and Outcome of Umbilical–Portal–Systemic Venous Shunts: Experience of a Tertiary Center and Proposal for a New Complex Type. Diagnostics, 12(4), 873. https://doi.org/10.3390/diagnostics12040873