Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?
| Autor: | Alix de Becdelièvre, Sophie Mayer Lacrosniere, Véronique Mirlesse, Benoît Funalot, Abdel Aissat, Annick Le Floch, Elsa Eche, Christelle Remus, Vanina Castaigne, Pascale Fanen, Cecile Prud’Homme, Chadia Mekki, Sandra Whalen |
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| Přispěvatelé: | Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-IFR10, Service de génétique [CHU Mondor], CHU Henri Mondor, AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Geneva University Hospital (HUG), Centre de ressources et de compétences pour la mucoviscidose [Debré], AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Intercommunal de Créteil (CHIC), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Simon, Stéphanie |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
prenatal [SDV]Life Sciences [q-bio] echogenic bowel Disease QH426-470 Gene mutation Bioinformatics CFTR Cystic fibrosis 03 medical and health sciences 0302 clinical medicine Genetics medicine Cystic Fibrosis (CF) Genotyping Genetics (clinical) non-Caucasian non-visualization of fetal gallbladder (NVFGB) Fetus [SDV.GEN]Life Sciences [q-bio]/Genetics 030219 obstetrics & reproductive medicine business.industry Gallbladder medicine.disease 3. Good health [SDV] Life Sciences [q-bio] 030104 developmental biology medicine.anatomical_structure Cohort Africa Echogenic Bowel mutation business |
| Zdroj: | Genes Genes, MDPI, 2021, 12 (5), pp.670. ⟨10.3390/genes12050670⟩ Genes, Vol 12, Iss 670, p 670 (2021) Volume 12 Issue 5 |
| ISSN: | 2073-4425 |
| Popis: | International audience; TIn 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. |
| Databáze: | OpenAIRE |
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