Evidence map›Paper›PMID 41360703›Full record

ArticlePrenatal diagnosis2026

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections.

Natalie B Gulrajani, John Boscardin, Billie R Lianoglou, Katie Tick, Carmen M A Santoli, Kristen A Miller, Angie C Jelin, Lorraine Dugoff, Rose Giardine, Cori Feist and 8 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Prenatal diagnosis, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

18 authors.

Natalie B GulrajaniSchool of Medicine, University of California, San Francisco, California, USA.ORCID 0000-0001-9257-2273
John BoscardinDepartment of Epidemiology & Biostatistics, University of California, San Francisco, California, USA.
Billie R LianoglouDepartment of Surgery, University of California, San Francisco, California, USA.
Katie TickDepartment of Obstetrics, Gynecology, & Reproductive Sciences, University of California, San Francisco, California, USA.
Carmen M A SantoliDepartment of Obstetrics, Gynecology, & Reproductive Sciences, University of California, San Francisco, California, USA.ORCID 0000-0002-7200-4540
Kristen A MillerDepartment of Gynecology and Obstetrics, Division of Maternal Fetal Medicine, John Hopkins University School of Medicine, Baltimore, Maryland, USA.ORCID 0000-0001-8567-3850
Angie C JelinDepartment of Gynecology and Obstetrics, Division of Maternal Fetal Medicine, John Hopkins University School of Medicine, Baltimore, Maryland, USA.ORCID 0000-0002-1792-4029
Lorraine DugoffDepartment of Obstetrics and Gynecology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.ORCID 0000-0003-3638-036X
Rose GiardineDepartment of Obstetrics and Gynecology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Cori FeistDepartment of Obstetrics and Gynecology, Oregon Health and Sciences University, Portland, Oregon, USA.
Rachel PilliodDepartment of Obstetrics and Gynecology, Oregon Health and Sciences University, Portland, Oregon, USA.ORCID 0000-0003-4491-1335
Stephanie DukhovnyDepartment of Obstetrics and Gynecology, Oregon Health and Sciences University, Portland, Oregon, USA.
Kelly GilmoreDepartment of Obstetrics and Gynecology, University of North Carolina, Chapel Hill, North Carolina, USA.
Neeta L VoraDepartment of Obstetrics and Gynecology, University of North Carolina, Chapel Hill, North Carolina, USA.
Aisling MurphyDepartment of Obstetrics and Gynecology, University of California, Los Angeles, California, USA.
Peter N RobinsonBerlin Institute of Health at Charité, Berlin, Germany.ORCID 0000-0002-0736-9199
Mary E NortonCenter for Maternal-Fetal Precision Medicine, University of California, San Francisco, California, USA.
Teresa N SparksCenter for Maternal-Fetal Precision Medicine, University of California, San Francisco, California, USA.ORCID 0000-0002-8593-2186

Funding

Sharing Aggregate Genomics Research Findings with Diverse Participants: A Pilot Study of an Innovative Design StrategyU01HG009599 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KOENIG, BARBARA A., KWOK, PUI-YAN · 2017 to 2021
$16.3M
WOMEN'S REPRODUCTIVE HEALTH RESEARCH CENTERK12HD001262 · NICHD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Andrea Vashti Jackson · 1998 to 2026
$9.3M
Uncovering the etiologies of non-immune hydrops fetalis through comprehensive genomic analyses and phenotypingR01HD107190 · NICHD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Teresa N Sparks · 2022 to 2026
$3.6M
Early Genomic DiagnosisK23HD088742 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI VORA, NEETA L · 2017 to 2020
$685k
Brianna Marie Foundation in collaboration with the Fetal Health FoundationNHGRI NIH HHS U01 HG009599NICHD NIH HHS K12 HD001262NICHD NIH HHS K23 HD088742NICHD NIH HHS R01 HD107190NIH HHS 5K12HD001262NIH HHS K23HD088742NIH HHS R01HD107190NIH HHS U01HG009599UCSF Center for Maternal-Fetal Precision Medicine
6 · The paper itself

Abstract

objectiveWe aimed to characterize the fetal features across gestation and describe genotype-phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.

methodRetrospective cohort study of pregnancies with a fetal RASopathy and one or more abnormal fluid collections. Ultrasound and clinic databases were searched at six institutions to identify pathogenic or likely pathogenic variants indicating a fetal RASopathy. Phenotypic features were organized by gestational age to evaluate their evolution, and chi-square and Fisher exact proportions were compared.

resultsForty-six pregnancies were included. Pleural effusions, skin edema, ascites, and cardiac abnormalities presented across gestation. Cystic hygroma and jugular sacs presented in the first trimester and persisted into the second trimester. Hepatomegaly, polyhydramnios, small or absent stomach, and contractures were more frequent in the second and third trimesters. Contractures were more likely with HRAS variants (63% vs. 24%, p = 0.044) and increased nuchal translucency or cystic hygroma were more common with SOS1 variants (100% vs. 44%, p = 0.049).

conclusionThese data provide insight into genotype-phenotype correlations and the course of fetal RASopathies that present with at least one abnormal fluid collection. Timing of these phenotypes is important to consider for future research on targeted in utero approaches to management.

Indexed as

Fetal DiseasesAdultFemaleGenetic Association StudiesGestational AgeHumansHydrops FetalisLymphangioma, CysticNuchal Translucency MeasurementPhenotypePleural EffusionPregnancyProto-Oncogene Proteins p21(ras)Retrospective StudiesUltrasonography, PrenatalProto-Oncogene Proteins p21(ras)

Identifiers

PMID41360703
PMCPMC12782120

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.