Evidence map›Paper›PMID 35802600›Full record

SynthesisClinical genetics2022

Genetics of non-isolated hemivertebra: A systematic review of fetal, neonatal, and infant cases.

Jennifer E Powel, Catherine E Sham, Michail Spiliopoulos, Carlos R Ferreira, Emily Rosenthal, Elena S Sinkovskaya, Shannon Brown, Angie C Jelin, Huda B Al-Kouatly

Abstract readSystematic Review
In one paragraph

Synthesis in Clinical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. 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

9 authors.

Jennifer E PowelDivision of Maternal Fetal Medicine, Department of Obstetrics Gynecology, & Women's Health, Saint Louis University School of Medicine, Saint Louis, Missouri, USA.
Catherine E ShamSidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Michail SpiliopoulosDivision of Maternal Fetal Medicine, Department of Obstetrics & Gynecology, University of Miami, Miami, Florida, USA.
Carlos R FerreiraSection on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.
Emily RosenthalDivision of Maternal Fetal Medicine, Department of Obstetrics & Gynecology, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, USA.
Elena S SinkovskayaDivision of Maternal Fetal Medicine, Department of Obstetrics & Gynecology, Eastern Virginia Medical School, Norfolk, Virginia, USA.
Shannon BrownDivision of Maternal Fetal Medicine, Department of Obstetrics & Gynecology, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, USA.
Angie C JelinDivision of Maternal Fetal Medicine, Department of Gynecology and Obstetrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Huda B Al-KouatlyDivision of Maternal Fetal Medicine, Department of Obstetrics & Gynecology, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, USA.

Funding

Single gene pathogenic variants associated with BEEC (Bladder Exstrophy, Epispadias, Complex)K23DK119949 · NIDDK · JOHNS HOPKINS UNIVERSITY · PI JELIN, ANGIE CHILD · 2019 to 2023
$1.1M
NIDDK NIH HHS K23 DK119949
6 · The paper itself

Abstract

Hemivertebra is a congenital vertebral malformation caused by unilateral failure of formation during embryogenesis that may be associated with additional abnormalities. A systematic review was conducted to investigate genetic etiologies of non-isolated hemivertebra identified in the fetal, neonatal, and infant periods using PubMed, Cochrane database, Ovid Medline, and ClinicalTrials.gov from inception through May 2022 (PROSPERO ID CRD42021229576). The Human Phenotype Ontology database was accessed May 2022. Studies were deemed eligible for inclusion if they addressed non-isolated hemivertebra or genetic causes of non-isolated hemivertebra identified in the fetal, neonatal, or infant periods. Cases diagnosed clinically without molecular confirmation were included. Systematic review identified 23 cases of non-isolated hemivertebra with karyotypic abnormalities, 2 cases due to microdeletions, 59 cases attributed to single gene disorders, 18 syndromic cases without known genetic etiology, and 14 cases without a known syndromic association. The Human Phenotype Ontology search identified 49 genes associated with hemivertebra. Non-isolated hemivertebra is associated with a diverse spectrum of cytogenetic abnormalities and single gene disorders. Genetic syndromes were notably common. Frequently affected organ systems include musculoskeletal, cardiovascular, central nervous system, genitourinary, gastrointestinal, and facial dysmorphisms. When non-isolated hemivertebra is identified on prenatal ultrasound, the fetus must be assessed for associated anomalies and genetic counseling is recommended.

Indexed as

FetusMusculoskeletal AbnormalitiesFemaleGenetic CounselingHumansInfantInfant, NewbornKaryotypingPregnancyRetrospective StudiesSpineUltrasonography, Prenatalcongenital abnormalitiesfetal diagnosisfetal malformationsprenatal diagnosisvertebra

Identifiers

PMID35802600
PMCPMC9830455

What Socratic holds

Textmetadata
LicenceTDM
Read underepoch 390

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 Socratic graph.