ArticlePrenatal diagnosis2023
Investigation into the genetics of fetal congenital lymphatic anomalies.
Article in Prenatal diagnosis, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Sirolimus for non-immune hydrops due to vascular and lymphatic anomalies in preterm neonates: an imaging-anchored response phenotype from a level IV NICU.Journal of perinatology : official journal of the California Perinatal Association · 2026Article
- Adhesion G protein-coupled receptors.Pharmacological reviews · 2026Review
- Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections.Prenatal diagnosis · 2026Article
- The Clinical Utility of Sequence-Based Genetic Testing for Fetal Edema Following Non-Diagnostic Microarray Results: A Population-Based Cohort Study.Prenatal diagnosis · 2026Article
- Society for Maternal-Fetal Medicine Consult Series #75: Evaluation and management of non-immune hydrops fetalis.Pregnancy (Hoboken, N.J.) · 2026Article
- The role of Piezo1 in immune cells and pregnancy.Frontiers in immunology · 2026Review
- Insights Into Congenital Lymphatic Anomalies Underlying Fetal Effusions.Prenatal diagnosis · 2026Article
- Genetic diseases underlying a spectrum of fetal effusions.American journal of obstetrics and gynecology · 2025Article
- Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing.Orphanet journal of rare diseases · 2025Review
- Review
- Lymphatic System Development and Function.Current cardiology reports · 2024Review
- Endothelial force sensing signals to parenchymal cells to regulate bile and plasma lipids.Science advances · 2024Article
- Robust Differentiation of Human Pluripotent Stem Cells into Lymphatic Endothelial Cells Using Transcription Factors.Cells, tissues, organs · 2024Article
Corrections and comments
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Authors and funding
11 authors.
Funding
Abstract
objectiveCongenital lymphatic anomalies (LAs) arise due to defects in lymphatic development and often present in utero as pleural effusion, chylothorax, nuchal and soft tissue edema, ascites, or hydrops. Many LAs are caused by single nucleotide variants, which are not detected on routine prenatal testing.
methodsDemographic data were compared between two subcohorts, those with clinically significant fetal edema (CSFE) and isolated fetal edema. A targeted variant analysis of LA genes was performed using American College of Medical Genetics criteria on whole exome sequencing (WES) data generated for 71 fetal edema cases who remained undiagnosed after standard workup.
resultsCSFE cases had poor outcomes, including preterm delivery, demise, and maternal preeclampsia. Pathogenic and likely pathogenic variants were identified in 7% (5/71) of cases, including variants in RASopathy genes, RASA1, SOS1, PTPN11, and a novel PIEZO1 variant. Variants of uncertain significance (VOUS) were identified in 45% (32/71) of cases. In CSFEs, VOUS were found in CELSR1, EPHB4, TIE1, PIEZO1, ITGA9, RASopathy genes, SOS1, SOS2, and RAF1.
conclusionsWES identified pathogenic and likely pathogenic variants and VOUS in LA genes in 51% of fetal edema cases, supporting WES and expanded hydrops panels in cases of idiopathic fetal hydrops and fluid collections.
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