Insights Into Congenital Lymphatic Anomalies Underlying Fetal Effusions.

ABSTRACT:

Objective

We describe a series of pregnancies with autosomal dominant lymphedema and generalized lymphatic dysplasia in the fetus diagnosed with prenatal exome or genome sequencing. We focus on specific syndromes, fetal features, and parental symptoms to deepen our understanding of congenital lymphatic anomalies.

Methods

Pregnancies with one or more fetal effusions were prospectively enrolled from 2017 to 2024 and underwent exome or genome sequencing. Fetal effusions included increased nuchal translucency ≥ 3.5 mm, cystic hygroma, pleural effusion, pericardial effusion, ascites, and/or skin edema. Records were reviewed to extract personal and family history, ultrasound findings, and pregnancy outcomes.

Results

Among 303 pregnancies with one or more fetal effusions, ei

SUBMITTER: Vargo SG 

PROVIDER: S-EPMC12744567 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature