Related Experiment Video
Updated: Jun 13, 2026
Isolation of Human Lymphatic Endothelial Cells by Multi-parameter Fluorescence-activated Cell Sorting
Published on: May 1, 2015
Prenatal Lymphedema: A Genotype-Phenotype Analysis
1Department of Plastic and Oral Surgery, Lymphedema Program, Boston Children's Hospital, Harvard Medical School, Boston, MA.
Insights
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.
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.
Abstract:
Primary lymphedema most commonly affects the lower extremities, is progressive, and not curable. The condition is associated with mutations in approximately 30 genes. Patients usually present with edema during infancy or adolescence. Four of 364 (1%) patients with primary lymphedema in our database were diagnosed by prenatal imaging. Three children did not exhibit lymphedema after birth, 2 had a VEGFC mutation, and 2 exhibited normal lymphatic function by lymphoscintigraphy. Lymphedema identified prenatally is associated with a VEGFC mutation and can resolve postnatally.
Related Concept Videos
01:33Pleiotropy
01:35Pedigree Analysis
01:00Punnett Squares
01:15Development of the Lymphatic System
The first lymph sacs to form are the paired jugular lymph sacs located at the junction of the internal jugular and subclavian veins. From these sacs, lymphatic capillary plexuses extend to the thorax, upper limbs, neck, and head, eventually forming lymphatic vessels. Each jugular lymph sac maintains a...
01:11Genetic Lingo
02:41Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...