Prenatal diagnosis of isolated bilateral clubfoot: Is amniocentesis indicated?
Rattachement africain : fr. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
INTRODUCTION: The 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 METHODS: This 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. RESULTS: In 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. CONCLUSIONS: Despite 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.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Prenatal diagnosis of isolated bilateral clubfoot: Is amniocentesis indicated?
- Date Crossref
- 09/11/2023
- Éditeur
- Wiley
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Inserm pays non établi dans la noticeOrganisme public
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Université Paris-Saclay Department of Obstetrics and Gynecology pays non établi dans la noticeUniversité ou école supérieure
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Assistance Publique – Hôpitaux de Paris pays non établi dans la noticeÉtablissement de santé
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Université Paris Cité Department of Genomic Medicine of System and Organs Diseases pays non établi dans la noticeUniversité ou école supérieure
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Hôpital Cochin pays non établi dans la noticeÉtablissement de santé
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Hôpital Antoine-Béclère pays non établi dans la noticeEntreprise
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Hôpital Necker-Enfants Malades pays non établi dans la noticeÉtablissement de santé
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Fédération pour la recherche en explorations thérapeutiques innovantes in utero pays non établi dans la noticeStructure de recherche
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Sorbonne Université pays non établi dans la noticeUniversité ou école supérieure
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Hôpital Armand-Trousseau pays non établi dans la noticeÉtablissement de santé
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Port‐Royal Maternity University Hospital Center Cochin Broca Hôtel Dieu Paris France Department of Obstetrics and Gynecology pays non établi dans la noticeUniversité ou école supérieure
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EA 7328 Université de Paris Paris France Necker Enfant Malades Hospital pays non établi dans la noticeUniversité ou école supérieure
Inserm, Department of Obstetrics and Gynecology — Université Paris-Saclay et Assistance Publique – Hôpitaux de Paris, avec 9 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.