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Related Experiment Video

Updated: Jun 13, 2026

Isolation of Human Lymphatic Endothelial Cells by Multi-parameter Fluorescence-activated Cell Sorting

Isolation of Human Lymphatic Endothelial Cells by Multi-parameter Fluorescence-activated Cell Sorting

Published on: May 1, 2015

Prenatal Lymphedema: A Genotype-Phenotype Analysis.

Michal Ad¹, Arin K Greene¹

¹Department of Plastic and Oral Surgery, Lymphedema Program, Boston Children's Hospital, Harvard Medical School, Boston, MA.

Journal of Vascular Anomalies

|June 12, 2026

Summary

This summary is machine-generated.

Prenatal lymphedema, often linked to VEGFC mutations, may resolve after birth. This condition, typically affecting lower limbs, can present before birth and may not persist postnatally.

Keywords:

VEGFC leg lymphedema mutation prenatal primary

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Last Updated: Jun 13, 2026

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A Revised Method for Inducing Secondary Lymphedema in the Hindlimb of Mice

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Published on: November 2, 2019

Area of Science:

Genetics
Pediatrics
Medical Imaging

Background:

Primary lymphedema is a progressive, incurable condition affecting lower extremities, often presenting in infancy or adolescence.
Genetic mutations in approximately 30 genes are associated with primary lymphedema.
Prenatal diagnosis of lymphedema is rare, identified in 1% of cases in the study database.

Purpose of the Study:

To investigate the characteristics and outcomes of primary lymphedema diagnosed prenatally.
To explore the association between prenatal lymphedema and specific genetic mutations, particularly in VEGFC.
To determine if prenatal lymphedema resolves postnatally and assess lymphatic function.

Main Methods:

Retrospective analysis of a database of primary lymphedema patients.
Identification of cases diagnosed via prenatal imaging.
Review of postnatal clinical presentation, genetic testing (VEGFC mutations), and lymphatic function assessment (lymphoscintigraphy).

Main Results:

Four out of 364 (1%) patients with primary lymphedema were diagnosed prenatally.
Of the four prenatally diagnosed cases, three did not exhibit lymphedema after birth.
Two of the resolved cases had a VEGFC mutation, and two showed normal lymphatic function postnatally.

Conclusions:

Prenatal lymphedema, particularly when associated with VEGFC mutations, can be transient and may resolve postnatally.
Prenatal imaging can identify lymphedema, but postnatal assessment is crucial for determining its persistence and lymphatic function.
The findings suggest a potential subset of lymphedema cases with a favorable prognosis, linked to specific genetic factors and resolving lymphatic abnormalities.