ArticleUltrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology2022
Diagnostic yield using whole-genome sequencing and in-silico panel of 281 genes associated with non-immune hydrops fetalis in clinical setting.
Article in Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2022. 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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13 citing papers in PubMed, 21 citations in OpenAlex.
- Cytogenetic and Molecular Findings in Hydrops-Related Mirror Syndrome.Prenatal diagnosis · 2026Article
- Incremental yield of genome sequencing after exome sequencing for nonimmune hydrops fetalis spectrum.American journal of obstetrics & gynecology MFM · 2026Article
- Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and albinism.NPJ genomic medicine · 2026Article
- Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare.Prenatal diagnosis · 2026Article
- Prenatal Whole-Genome Sequencing for Fetal Anomalies: Diagnostic Performance, Challenges, and Clinical Implications.International journal of molecular sciences · 2026Review
- The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation.Genome medicine · 2026Article
- Society for Maternal-Fetal Medicine Consult Series #75: Evaluation and management of non-immune hydrops fetalis.Pregnancy (Hoboken, N.J.) · 2026Article
- Placenta-derived extracellular vesicles in maternal plasma of Hb Bart's fetuses.Scientific reports · 2025Article
- Genetic diseases underlying a spectrum of fetal effusions.American journal of obstetrics and gynecology · 2025Article
- Risk of hypertensive disorders in pregnancies with non-immune hydrops fetalis and single fetal effusions.Pregnancy (Hoboken, N.J.) · 2025Article
- Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.American journal of human genetics · 2023Article
- Implementation of Exome Sequencing in Prenatal Diagnostics: Chances and Challenges.Diagnostics (Basel, Switzerland) · 2023Article
- Prenatal Clinical Findings inGenes · 2023Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo investigate the diagnostic yield of clinical whole-genome sequencing (WGS) in prenatally diagnosed non-immune hydrops fetalis (NIHF).
methodsThis was a retrospective study of 23 fetuses with prenatally diagnosed NIHF, negative for trisomies and copy-number variants, referred for analysis by WGS with an in-silico panel of 281 genes associated with hydrops fetalis. Due to identification of a high proportion of causative variants in the HRAS gene in the main cohort, Sanger sequencing of HRAS was performed in a replication cohort, consisting of 24 additional fetuses with NIHF that were negative for trisomies and copy-number variants and had not undergone WGS.
resultsOf the 23 fetuses in the main cohort, a molecular diagnosis was achieved in 12 (52.2%). Pathogenic or likely pathogenic variants were identified in seven genes: HRAS (n = 5), RIT1 (n = 2), FOXP3 (n = 1), GLB1 (n = 1), MAP2K1 (n = 1), PTPN11 (n = 1) and RASA1 (n = 1). The inheritance pattern of the 12 causative variants was autosomal dominant in 10 cases (HRAS, MAP2K1, PTPN11, RASA1, RIT1), autosomal recessive in one (GLB1) and X-linked recessive in one (FOXP3). Of the 24 fetuses in the replication cohort, a pathogenic variant in HRAS was identified in one, resulting in an overall frequency of causative HRAS variants of 12.8% (6/47) in our two cohorts.
conclusionsWe demonstrate a diagnostic yield of 52% with clinical WGS in NIHF using an in-silico panel of 281 genes. However, the high diagnostic yield may be attributed to the small sample size and possible over-representation of severe phenotypes in the included fetuses. Bearing in mind that chromosomal abnormalities were excluded in our cohorts, a detection rate of up to 75% is possible in prenatally diagnosed NIHF when WGS analysis includes calling of chromosomal aberrations. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
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