{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T06:12:29Z","timestamp":1792131149291,"version":"4.4.0"},"reference-count":48,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2021,4,29]],"date-time":"2021-04-29T00:00:00Z","timestamp":1619654400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>In families without a Cystic Fibrosis (CF) history, fetal ultrasound bowel abnormalities can unexpectedly reveal the disease. Isolated or in association, the signs can be fetal bowel hyperechogenicity, intestinal loop dilatation and non-visualization of fetal gallbladder. In these cases, search for CF transmembrane conductance regulator (CFTR) gene mutations is part of the recommended diagnostic practices, with a search for frequent mutations according to ethnicity, and, in case of the triad of signs, with an exhaustive study of the gene. However, the molecular diagnosis remains a challenge in populations without well-known frequent pathogenic variants. We present a multiethnic cohort of 108 pregnancies with fetal bowel abnormalities in which the parents benefited from an exhaustive study of the CFTR gene. We describe the new homozygous p.Cys1410* mutation in a fetus of African origin. We did not observe the most frequent p.Phe508del mutation in our cohort but evidenced variants undetected by our frequent mutations kit. Thanks to the progress of sequencing techniques and despite the difficulties of interpretation occasionally encountered, we discuss the need to carry out a comprehensive CFTR study in all patients in case of fetal bowel abnormalities.<\/jats:p>","DOI":"10.3390\/genes12050670","type":"journal-article","created":{"date-parts":[[2021,4,29]],"date-time":"2021-04-29T10:30:41Z","timestamp":1619692241000},"page":"670","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?"],"prefix":"10.3390","volume":"12","author":[{"given":"Chadia","family":"Mekki","sequence":"first","affiliation":[{"name":"Departement de Genetique, DMU Biologie-Pathologie, GH Mondor-Chenevier, AP-HP, F-94010 Creteil, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdel","family":"Aissat","sequence":"additional","affiliation":[{"name":"Departement de Genetique, DMU Biologie-Pathologie, GH Mondor-Chenevier, AP-HP, F-94010 Creteil, France"},{"name":"INSERM, IMRB, Paris Est Creteil University, F-94010 Creteil, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"Mirlesse","sequence":"additional","affiliation":[{"name":"Service D\u2019echographie Gynecologique et Obstetricale, GH Bichat-C Bernard, AP-HP, F-75018 Paris, France"},{"name":"Service Medecine F\u0153tale, Centre Hospitalo Universitaire de Geneve (HUG), S-1205 Geneve, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Mayer Lacrosniere","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Gastro-Enterologie, Pneumologie, Mucoviscidose et Nutrition Pediatrique, CRCM, Universit\u00e9 Paris 7, Hopital Robert Debre, AP-HP, F-75019 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elsa","family":"Eche","sequence":"additional","affiliation":[{"name":"Service D\u2019echographie Gynecologique et Obstetricale, GH Bichat-C Bernard, AP-HP, F-75018 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annick","family":"Le Floch","sequence":"additional","affiliation":[{"name":"Departement de Genetique, DMU Biologie-Pathologie, GH Mondor-Chenevier, AP-HP, F-94010 Creteil, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Whalen","sequence":"additional","affiliation":[{"name":"Service de Genetique, Hopital Trousseau, AP-HP, F-75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecile","family":"Prud\u2019Homme","sequence":"additional","affiliation":[{"name":"Service de Genetique, Hopital Trousseau, AP-HP, F-75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christelle","family":"Remus","sequence":"additional","affiliation":[{"name":"Service de Genetique, Centre Hospitalier Intercommunal de Creteil, F-94010 Creteil, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benoit","family":"Funalot","sequence":"additional","affiliation":[{"name":"Departement de Genetique, DMU Biologie-Pathologie, GH Mondor-Chenevier, AP-HP, F-94010 Creteil, France"},{"name":"INSERM, IMRB, Paris Est Creteil University, F-94010 Creteil, France"},{"name":"Service de Genetique, Centre Hospitalier Intercommunal de Creteil, F-94010 Creteil, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanina","family":"Castaigne","sequence":"additional","affiliation":[{"name":"Service d\u2019Obstetrique et Gynecologie, Centre Hospitalier Intercommunal de Creteil, F-94010 Creteil, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"Fanen","sequence":"additional","affiliation":[{"name":"Departement de Genetique, DMU Biologie-Pathologie, GH Mondor-Chenevier, AP-HP, F-94010 Creteil, France"},{"name":"INSERM, IMRB, Paris Est Creteil University, F-94010 Creteil, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alix","family":"de Becdeli\u00e8vre","sequence":"additional","affiliation":[{"name":"Departement de Genetique, DMU Biologie-Pathologie, GH Mondor-Chenevier, AP-HP, F-94010 Creteil, France"},{"name":"INSERM, IMRB, Paris Est Creteil University, F-94010 Creteil, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,4,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"a009472","DOI":"10.1101\/cshperspect.a009472","article-title":"The Cystic Fibrosis Gene: A Molecular Genetic Perspective","volume":"3","author":"Tsui","year":"2013","journal-title":"Cold Spring Harb. 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