Evidence map›Paper›PMID 37942915›Full record

Observational studyActa obstetricia et gynecologica Scandinavica2024

Prenatal diagnosis of isolated bilateral clubfoot: Is amniocentesis indicated?

Edouard Leyne, Olivia Anselem, Pénélope Jordan, Alexandre J Vivanti, Alexandra Benachi, Laurent Salomon, Mathilde Jacquier, Jean-Marie Jouannic, Ferdinand Dhombres, Tatiana Cambier and 5 more

Open access · diamondAbstract readObservational StudyMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in Acta obstetricia et gynecologica Scandinavica, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
1.9field-weighted citation impact, top 14% 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, 1 synthesis or guideline pooled it, 7 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Prenatal diagnosis of isolated bilateral clubfoot: Is amniocentesis indicated?Acta obstetricia et gynecologica Scandinavica · 2024
    Observational
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

15 authors at 5 institutions in 1 country.

Edouard LeyneDepartment of Obstetrics and Gynecology, Assistance Publique-Hôpitaux de Paris, Port-Royal Maternity, University Hospital Center Cochin Broca Hôtel Dieu, Paris, France.
Olivia AnselemDepartment of Obstetrics and Gynecology, Assistance Publique-Hôpitaux de Paris, Port-Royal Maternity, University Hospital Center Cochin Broca Hôtel Dieu, Paris, France.
Pénélope JordanDepartment of Genomic Medicine of System and Organs Diseases, Cochin Hospital, APHP Centre, Université Paris Cité, Paris, France.
Alexandre J VivantiInserm UMR 1195, Université Paris Saclay, Le Kremlin-Bicêtre, France.ORCID 0000-0002-4921-0047
Alexandra BenachiDepartment of Genomic Medicine of System and Organs Diseases, Cochin Hospital, APHP Centre, Université Paris Cité, Paris, France.
Laurent SalomonMaternity and Fetal Medicine Department, Necker Enfant Malades Hospital, APHP, EA 7328, Université de Paris, Paris, France.
Mathilde JacquierMaternity and Fetal Medicine Department, Necker Enfant Malades Hospital, APHP, EA 7328, Université de Paris, Paris, France.
Jean-Marie JouannicFetal Medicine Department, Armand Trousseau Hospital, AP-HP, Sorbonne University, Paris, France.
Ferdinand DhombresFetal Medicine Department, Armand Trousseau Hospital, AP-HP, Sorbonne University, Paris, France.
Tatiana CambierDepartment of Obstetrics and Gynecology, "Robert Debré" Hospital, Assistance Publique - Hôpitaux de Paris, Paris, France.
Jonathan RosenblattDepartment of Obstetrics and Gynecology, "Robert Debré" Hospital, Assistance Publique - Hôpitaux de Paris, Paris, France.
Emmanuelle PannierDepartment of Obstetrics and Gynecology, Assistance Publique-Hôpitaux de Paris, Port-Royal Maternity, University Hospital Center Cochin Broca Hôtel Dieu, Paris, France.
François GoffinetDepartment of Obstetrics and Gynecology, Assistance Publique-Hôpitaux de Paris, Port-Royal Maternity, University Hospital Center Cochin Broca Hôtel Dieu, Paris, France.
Vassilis TsatsarisDepartment of Obstetrics and Gynecology, Assistance Publique-Hôpitaux de Paris, Port-Royal Maternity, University Hospital Center Cochin Broca Hôtel Dieu, Paris, France.
Yoann AthielDepartment of Obstetrics and Gynecology, Assistance Publique-Hôpitaux de Paris, Port-Royal Maternity, University Hospital Center Cochin Broca Hôtel Dieu, Paris, France.ORCID 0000-0003-2665-8292
Assistance Publique – Hôpitaux de Paris · FRHôpital Necker-Enfants Malades · FRInserm · FRSorbonne Université · FRUniversité Paris Cité · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionThe aim of this study is to evaluate the benefit of cytogenetic testing by amniocentesis after an ultrasound diagnosis of isolated bilateral talipes equinovarus. MATERIAL AND

methodsThis multicenter observational retrospective study includes all prenatally diagnosed cases of isolated bilateral talipes equinovarus in five fetal medicine centers from 2012 through 2021. Ultrasound data, amniocentesis results, biochemical analyses of amniotic fluid and parental blood samples to test neuromuscular diseases, pregnancy outcomes, and postnatal outcomes were collected for each patient.

resultsIn all, 214 fetuses with isolated bilateral talipes equinovarus were analyzed. A first-degree family history of talipes equinovarus existed in 9.8% (21/214) of our cohort. Amniocentesis was proposed to 86.0% (184/214) and performed in 70.1% (129/184) of cases. Of the 184 karyotypes performed, two (1.6%) were abnormal (one trisomy 21 and one triple X syndrome). Of the 103 microarrays performed, two (1.9%) revealed a pathogenic copy number variation (one with a de novo 18p deletion and one with a de novo 22q11.2 deletion) (DiGeorge syndrome). Neuromuscular diseases (spinal muscular amyotrophy, myasthenia gravis, and Steinert disease) were tested for in 56 fetuses (27.6%); all were negative. Overall, 97.6% (165/169) of fetuses were live-born, and the diagnosis of isolated bilateral talipes equinovarus was confirmed for 98.6% (139/141). Three medical terminations of pregnancy were performed (for the fetuses diagnosed with Down syndrome, DiGeorge syndrome, and the 18p deletion). Telephone calls (at a mean follow-up age of 4.5 years) were made to all parents to collect medium-term and long-term follow-up information, and 70 (33.0%) families were successfully contacted. Two reported a rare genetic disease diagnosed postnatally (one primary microcephaly and one infantile glycine encephalopathy). Parents did not report any noticeably abnormal psychomotor development among the other children during this data collection.

conclusionsDespite the low rate of pathogenic chromosomal abnormalities diagnosed prenatally after this ultrasound diagnosis, the risk of chromosomal aberration exceeds the risks of amniocentesis. These data may be helpful in prenatal counseling situations.

Indexed as

ClubfootNeuromuscular DiseasesTalipesAmniocentesisAmniotic FluidChildChild, PreschoolChromosome AberrationsDNA Copy Number VariationsFemaleHumansPregnancyPrenatal DiagnosisRetrospective Studiesamniocentesisarray comparative genomic hybridizationclubfootkaryotypestalipes equinovarus

Identifiers

PMID37942915
PMCPMC10755119
OpenAlexW4388527554

What OpenQuestion holds

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LicenceCC BY-NC
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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.