Definition/General

Introduction:
-Umbilical cord thrombosis is a serious vascular complication involving clot formation within umbilical vessels
-It occurs in 1 in 1,300 to 1 in 3,000 deliveries
-The condition may involve arteries, veins, or both
-It is associated with significant perinatal morbidity and mortality.
Origin:
-Results from vascular injury or stasis within umbilical vessels
-May be caused by cord compression, torsion, or knotting
-Endothelial damage initiates coagulation cascade
-Hypercoagulable states increase risk
-Associated with inflammation and infection.
Classification:
-Classified by vessel involvement: arterial, venous, or mixed
-Acute versus chronic thrombosis
-Partial versus complete vessel occlusion
-Single vessel versus multiple vessel involvement.
Epidemiology:
-Incidence: 1 in 1,300-3,000 deliveries
-Higher risk with maternal thrombophilia
-More common with cord abnormalities
-Associated with 10-40% fetal mortality
-Arterial thrombosis more common than venous.

Clinical Features

Presentation:
-Fetal distress during labor
-Abnormal fetal heart rate patterns
-Intrauterine fetal death (10-40%)
-Meconium-stained liquor
-Growth restriction
-Emergency cesarean section indication.
Symptoms:
-Variable decelerations on monitoring
-Bradycardia or tachycardia
-Decreased fetal movements
-Signs of fetal hypoxia
-Stillbirth in severe cases
-Neonatal complications.
Risk Factors:
-Maternal thrombophilia
-Antiphospholipid syndrome
-Diabetes mellitus
-Cord abnormalities (knots, torsion)
-Infection (chorioamnionitis)
-Maternal age >35 years.
Screening:
-Color Doppler ultrasound
-Umbilical artery flow assessment
-Fetal monitoring during labor
-Maternal thrombophilia screening
-Cord examination at delivery.

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Gross Description

Appearance:
-Firm, dark areas within umbilical cord
-Vessel distension at thrombosis site
-Hemorrhage may be present
-Color changes from red to brown
-Cord may appear swollen or edematous.
Characteristics:
-Palpable hardness in affected vessel
-Segmental involvement common
-May show vessel wall necrosis
-Surrounding edema in Wharton's jelly
-Surface discoloration possible.
Size Location:
-Location: any cord segment
-Fetal end more commonly affected
-May involve short or long segments
-Multiple sites possible
-Cord length usually normal.
Multifocality:
-May involve single or multiple vessels
-Arterial thrombosis more common
-Venous involvement less frequent
-Segmental pattern typical.

Microscopic Description

Histological Features:
-Intravascular thrombus composed of fibrin and platelets
-Vessel wall damage with endothelial loss
-Inflammatory infiltrate around vessels
-Organization of thrombus over time
-Surrounding Wharton's jelly edema.
Cellular Characteristics:
-Platelet aggregates and fibrin mesh
-Red blood cells trapped in clot
-Inflammatory cells (neutrophils, macrophages)
-Endothelial denudation
-Smooth muscle cell damage.
Architectural Patterns:
-Complete or partial vessel occlusion
-Layered thrombus structure
-Recanalization attempts possible
-Vessel wall thickening
-Perivascular inflammation.
Grading Criteria:
-Assessment of occlusion degree
-Thrombus age determination
-Inflammatory response severity
-Vessel wall damage extent
-Organization and recanalization.

Immunohistochemistry

Positive Markers:
-CD31 highlights damaged endothelium
-CD34 in vessel walls
-Fibrin stains highlight thrombus
-CD68 marks macrophages
-Smooth muscle actin in vessel walls.
Negative Markers:
-Cytokeratin negative in thrombus
-S-100 negative
-No specific negative markers required
-Normal tissue markers absent in thrombus.
Diagnostic Utility:
-Confirms vascular nature of lesion
-Identifies thrombus composition
-Assesses vessel wall integrity
-Distinguishes from other lesions
-Evaluates inflammatory response.
Molecular Subtypes:
-No specific molecular classification
-Coagulation markers may be elevated
-Inflammatory markers present
-Endothelial dysfunction markers.

Molecular/Genetic

Genetic Mutations:
-Thrombophilia gene mutations possible
-Factor V Leiden
-Prothrombin G20210A
-MTHFR mutations
-Protein C, S deficiency
-Antithrombin deficiency.
Molecular Markers:
-Coagulation cascade activation
-Inflammatory mediators upregulated
-Endothelial dysfunction markers
-Hypoxia-inducible factors
-Apoptosis markers.
Prognostic Significance:
-Complete occlusion poor prognosis
-Multiple vessel involvement worse outcome
-Early gestational age increases risk
-Associated with neurological sequelae
-High recurrence risk.
Therapeutic Targets:
-Anticoagulation controversial in pregnancy
-Delivery timing optimization
-Neonatal resuscitation
-Thrombophilia screening
-Genetic counseling.

Differential Diagnosis

Similar Entities:
-Cord hematoma
-Vessel compression
-Vasospasm
-Cord edema
-Inflammatory vessel changes.
Distinguishing Features:
-Thrombosis: intravascular clot
-Thrombosis: vessel occlusion
-Hematoma: extravascular blood
-Compression: vessel flattening
-Vasospasm: no thrombus
-Edema: tissue swelling.
Diagnostic Challenges:
-Thrombus age determination
-Distinguishing from postmortem clot
-Sampling adequacy
-Clinical correlation importance
-Cause identification.
Rare Variants:
-Septic thrombosis
-Tumor-associated thrombosis
-Drug-induced thrombosis
-Thrombosis with vessel rupture
-Recurrent thrombosis.

Sample Pathology Report

Template Format

Sample Pathology Report

Complete Report: This is an example of how the final pathology report should be structured for this condition.

Specimen Information

Umbilical cord measuring [X] cm with abnormal segment

Thrombosis Location

Location: [segment] of cord, involving [artery/vein/both]

Vessel Occlusion

Occlusion: [partial/complete], affecting [percentage] of vessel lumen

Thrombus Characteristics

Thrombus: [acute/chronic/organizing], composed of [fibrin/platelets/mixed]

Vessel Wall Changes

Vessel wall: [intact/damaged], [present/absent] endothelial loss

Inflammatory Response

Inflammation: [mild/moderate/severe] perivascular infiltrate

Clinical Significance

Clinical significance: [risk assessment] for fetal complications

Final Diagnosis

Umbilical cord thrombosis, [vessel type], [extent]