Evidence map›Paper›PMID 30410095›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019

Nonimmune hydrops fetalis: identifying the underlying genetic etiology.

Teresa N Sparks, Kao Thao, Billie R Lianoglou, Nina M Boe, Kari G Bruce, Ilina Datkhaeva, Nancy T Field, Victoria M Fratto, Jennifer Jolley, Louise C Laurent and 11 more

Abstract read
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
44citing papers in PubMed, 1 pooled it
–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

44 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2021
    Pooled it
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  12. Open biology · 2025
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  18. A Splice Site Variant inAnimals : an open access journal from MDPI · 2024
    Article
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  20. 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

21 authors.

Teresa N SparksDepartment of Obstetrics, Gynecology, & Reproductive Sciences, University of California, San Francisco, CA, USA. teresa.sparks@ucsf.edu.
Kao ThaoDepartment of Obstetrics, Gynecology, & Reproductive Sciences, University of California, San Francisco, CA, USA.
Billie R LianoglouDepartment of Obstetrics, Gynecology, & Reproductive Sciences, University of California, San Francisco, CA, USA.
Nina M BoeDepartment of Obstetrics & Gynecology, University of California, Davis, CA, USA.
Kari G BruceDepartment of Pediatrics, University of California, Irvine, CA, USA.
Ilina DatkhaevaDepartment of Obstetrics & Gynecology, University of California, Los Angeles, CA, USA.
Nancy T FieldDepartment of Obstetrics & Gynecology, University of California, Davis, CA, USA.
Victoria M FrattoDepartment of Obstetrics, Gynecology, and Reproductive Biology, University of California, San Diego, CA, USA.
Jennifer JolleyDepartment of Obstetrics & Gynecology, University of California, Irvine, CA, USA.
Louise C LaurentDepartment of Obstetrics, Gynecology, and Reproductive Biology, University of California, San Diego, CA, USA.
Anne H MardyDepartment of Obstetrics, Gynecology, & Reproductive Sciences, University of California, San Francisco, CA, USA.
Aisling M MurphyDepartment of Obstetrics & Gynecology, University of California, Los Angeles, CA, USA.
Emily NganDepartment of Obstetrics, Gynecology, and Reproductive Biology, University of California, San Diego, CA, USA.
Naseem RangwalaDepartment of Obstetrics, Gynecology, & Reproductive Sciences, University of California, San Francisco, CA, USA.
Catherine A M RottkampDepartment of Pediatrics, University of California, Davis, CA, USA.
Lisa WilsonDepartment of Obstetrics, Gynecology, & Reproductive Sciences, University of California, San Francisco, CA, USA.
Erica WuDepartment of Pediatrics, University of California, Irvine, CA, USA.
Cherry C UyDepartment of Pediatrics, University of California, Irvine, CA, USA.
Priscila Valdez LopezDepartment of Obstetrics, Gynecology, & Reproductive Sciences, University of California, San Francisco, CA, USA.
Mary E NortonDepartment of Obstetrics, Gynecology, & Reproductive Sciences, University of California, San Francisco, CA, USA.
University of California Fetal–Maternal Consortium (UCfC)

Funding

WOMEN'S REPRODUCTIVE HEALTH RESEARCH CENTERK12HD001262 · NICHD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Andrea Vashti Jackson · 1998 to 2026
$9.3M
NICHD NIH HHS K12 HD001262
6 · The paper itself

Abstract

purposeNumerous etiologies may lead to nonimmune hydrops fetalis (NIHF), and the underlying cause often remains unclear. We aimed to determine the proportion of NIHF cases in which the etiology was clearly determined in a large, contemporary, and diverse cohort, as well as to describe the etiologies with a focus on genetic causes.

methodsRetrospective review of NIHF cases between 2015 and 2017 from the five University of California Fetal-Maternal Consortium sites. Singleton pregnancies with prenatally diagnosed NIHF were included, and cases with maternal alloimmunization were excluded. Cases were categorized as being of confirmed, suspected, or unknown etiology.

resultsSixty-five NIHF cases were identified. Forty-six percent (30/65) remained of unknown etiology, while 9.2% (6/65) had a suspected etiology and 44.6% (29/65) were of confirmed etiology. Among confirmed cases, 11 resulted from aneuploidy; 7 from fetal structural anomalies; 2 each from fetal arrhythmia, Noonan syndrome, and generalized lymphatic dysplasia; and 1 each from arthrogryposis, parvovirus, neonatal alloimmune thrombocytopenia, fetal goiter, and Kasabach-Merritt syndrome.

conclusionIn this contemporary, multicenter study, the cause of prenatally diagnosed NIHF was confirmed in only 44% of cases, and a genetic etiology was found in only 25% of those that received standard of care genetic testing.

Indexed as

AdolescentAdultAneuploidyCaliforniaCohort StudiesFemaleFetusHumansHydrops FetalisInfant, NewbornMalePregnancyPregnancy Trimester, FirstPrenatal CareRetrospective StudiesUltrasonography, Prenataldiagnostic evaluationetiologygenetichydrops fetalisnonimmune

Identifiers

PMID30410095
PMCPMC6509016

What OpenQuestion holds

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Registered trials

None linked

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.