{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T08:38:35Z","timestamp":1769071115492,"version":"3.49.0"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,11,9]],"date-time":"2023-11-09T00:00:00Z","timestamp":1699488000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Obstet Gynecol Scand"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>The aim of this study is to evaluate the benefit of cytogenetic testing by amniocentesis after an ultrasound diagnosis of isolated bilateral talipes equinovarus.<\/jats:p><\/jats:sec><jats:sec><jats:title>Material and methods<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In all, 214 fetuses with isolated bilateral talipes equinovarus were analyzed. A first\u2010degree 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\u2010born, 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\u2010up age of 4.5\u2009years) were made to all parents to collect medium\u2010term and long\u2010term follow\u2010up 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aogs.14716","type":"journal-article","created":{"date-parts":[[2023,11,9]],"date-time":"2023-11-09T12:38:01Z","timestamp":1699533481000},"page":"51-58","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Prenatal diagnosis of isolated bilateral clubfoot: Is amniocentesis indicated?"],"prefix":"10.1111","volume":"103","author":[{"given":"Edouard","family":"Leyne","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, Assistance Publique\u2010H\u00f4pitaux de Paris, Port\u2010Royal Maternity University Hospital Center Cochin Broca H\u00f4tel Dieu  Paris France"},{"name":"Inserm UMR 1195 Universit\u00e9 Paris Saclay  Le Kremlin\u2010Bic\u00eatre 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Femmes et des Nouveau\u2010n\u00e9s, Antoine B\u00e9cl\u00e8re Hospital, AP\u2010HP Universit\u00e9 Paris Saclay  Clamart France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"Benachi","sequence":"additional","affiliation":[{"name":"Department of Genomic Medicine of System and Organs Diseases, Cochin Hospital, APHP Centre Universit\u00e9 Paris Cit\u00e9  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurent","family":"Salomon","sequence":"additional","affiliation":[{"name":"Maternity and Fetal Medicine Department, Necker Enfant Malades Hospital, APHP, EA 7328 Universit\u00e9 de Paris  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mathilde","family":"Jacquier","sequence":"additional","affiliation":[{"name":"Maternity and Fetal Medicine Department, Necker Enfant Malades Hospital, APHP, EA 7328 Universit\u00e9 de Paris  Paris 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