Evidence map›Paper›PMID 34297364›Full record

ReviewClinical genetics2022

Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.

Sanne C C Vincenten, Nienke Van Der Stoep, Aimée D C Paulussen, Karlien Mul, Umesh A Badrising, Marjolein Kriek, Olivier W H Van Der Heijden, Baziel G M Van Engelen, Nicol C Voermans, Christine E M De Die-Smulders and 1 more

Open access · hybridAbstract readCase ReportsReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Clinical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.8field-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

5 citing papers in PubMed, 13 citations in OpenAlex.

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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

11 authors at 3 institutions in 1 country.

Sanne C C VincentenDepartment of Neurology, Neuromuscular Centre Nijmegen, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0002-0412-0670
Nienke Van Der StoepDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Aimée D C PaulussenDepartment of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, the Netherlands.
Karlien MulDepartment of Neurology, Neuromuscular Centre Nijmegen, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0001-8487-9478
Umesh A BadrisingDepartment of Neurology, Leiden University Medical Center, Leiden, the Netherlands.
Marjolein KriekDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Olivier W H Van Der HeijdenDepartment of Obstetrics and Gynaecology, Radboud University Medical Center, Nijmegen, the Netherlands.
Baziel G M Van EngelenDepartment of Neurology, Neuromuscular Centre Nijmegen, Radboud University Medical Center, Nijmegen, The Netherlands.
Nicol C VoermansDepartment of Neurology, Neuromuscular Centre Nijmegen, Radboud University Medical Center, Nijmegen, The Netherlands.
Christine E M De Die-SmuldersDepartment of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, the Netherlands.
Saskia LasscheDepartment of Neurology, Neuromuscular Centre Nijmegen, Radboud University Medical Center, Nijmegen, The Netherlands.
Radboud University Nijmegen · NLLeiden University Medical Center · NLMaastricht University Medical Centre · NL

Funding

Prinses Beatrix Spierfonds
6 · The paper itself

Abstract

Reproductive counseling in facioscapulohumeral muscular dystrophy (FSHD) can be challenging due to the complexity of its underlying genetic mechanisms and due to incomplete penetrance of the disease. Full understanding of the genetic causes and potential inheritance patterns of both distinct FSHD types is essential: FSHD1 is an autosomal dominantly inherited repeat disorder, whereas FSHD2 is a digenic disorder. This has become even more relevant now that prenatal diagnosis and preimplantation genetic diagnosis options are available for FSHD1. Pregnancy and delivery outcomes in FSHD are usually favorable, but clinicians should be aware of the risks. We aim to provide clinicians with case-based strategies for reproductive counseling in FSHD, as well as recommendations for pregnancy and delivery.

Indexed as

Genetic Association StudiesGenetic CounselingGenetic Predisposition to DiseaseAdultClinical Decision-MakingDiagnosis, DifferentialDisease ManagementFemaleGenetic TestingHumansMaleMultifactorial InheritanceMuscular Dystrophy, FacioscapulohumeralPhenotypePregnancyPregnancy Complicationsdeliveryfacioscapulohumeral muscular dystrophygeneticspregnancypreimplantation genetic testingprenatal diagnosis

Identifiers

PMID34297364
PMCPMC9291192
OpenAlexW3184153849

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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 OpenQuestion graph.