Evidence map›Paper›PMID 35723972›Full record

ArticlePrenatal diagnosis2022

The utility of pathologic examination and comprehensive phenotyping for accurate diagnosis with perinatal exome sequencing.

Kate Swanson, Mary E Norton, Billie R Lianoglou, Angie C Jelin, Ugur Hodoglugil, Jessica Van Ziffle, Patrick Devine, Teresa N Sparks

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Prenatal diagnosis, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.6field-weighted citation impact, top 29% of its field
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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026
    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

8 authors at 2 institutions in 1 country.

Kate SwansonDepartment of Obstetrics, Gynecology and Reproductive Sciences, Division of Maternal-Fetal Medicine, University of California, San Francisco, California, USA.ORCID 0000-0003-1174-1501
Mary E NortonDepartment of Obstetrics, Gynecology and Reproductive Sciences, Division of Maternal-Fetal Medicine, University of California, San Francisco, California, USA.
Billie R LianoglouFetal Treatment Center, University of California, San Francisco, California, USA.
Angie C JelinDepartment of Gynecology and Obstetrics, Johns Hopkins Hospital, Baltimore, Maryland, USA.ORCID 0000-0002-1792-4029
Ugur HodoglugilGenomic Medicine Laboratory, University of California, San Francisco, California, USA.
Jessica Van ZiffleGenomic Medicine Laboratory, University of California, San Francisco, California, USA.
Patrick DevineGenomic Medicine Laboratory, University of California, San Francisco, California, USA.
Teresa N SparksDepartment of Obstetrics, Gynecology and Reproductive Sciences, Division of Maternal-Fetal Medicine, University of California, San Francisco, California, USA.ORCID 0000-0002-8593-2186
University of California, San Francisco · USJohns Hopkins Hospital · US

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
NHGRI NIH HHS U01 HG009599NICHD NIH HHS K12 HD001262NICHD NIH HHS R01 HD107190NIH HHS 5K12HD001262-18NIH HHS U01HG009599
6 · The paper itself

Abstract

objectiveExome sequencing (ES) offers the ability to assess for variants in thousands of genes and is particularly useful in the setting of fetal anomalies. However, the ES pipeline relies on a thorough understanding of an individual patient's phenotype, which may be limited in the prenatal setting. Additional pathology evaluations in the pre- and postnatal settings can add phenotypic details important for clearly establishing and characterizing a diagnosis.

methodsThis is a case series of prenatal ES performed at our institution in which pathology evaluations, including autopsy, dysmorphology examination, histology, and peripheral blood smear, augmented the understanding of the fetal phenotype. ES was performed at our institution and a multidisciplinary panel reviewed and classified the variants for each case.

resultsWe present four cases wherein pathology evaluations were beneficial for supporting a perinatal diagnosis identified with ES. In each of these cases, pathology findings provided additional data to support a more complete understanding of the relationship between the perinatal phenotype and variants identified with ES.

conclusionThese cases highlight challenges of perinatal ES related to incomplete prenatal phenotyping, demonstrate the utility of pathology evaluations to support diagnoses identified with ES, and further characterize the disease manifestations of specific genetic variants.

Indexed as

ExomeFetusExome SequencingFemaleHumansPregnancyPrenatal DiagnosisUltrasonography, Prenatal

Identifiers

PMID35723972
PMCPMC9531346
OpenAlexW4283167914

What OpenQuestion holds

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Registered trials

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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.