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1. Prenatal diagnosis of recurrent hypoplastic left heart syndrome associated with MYH6 variants: a case report

Author

B. Najib, T. Quibel, A. Tessier, J. Mortreux, P. Bouvagnet, C. Cohen, F. Vialard, and R. Dard

Subjects
Hypoplastic left heart syndrome, MYH6, MYH7, Congenital heart disease, Case report, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Abstract Background Hypoplastic left heart syndrome (HLHS) is a rare but genetically complex and clinically and anatomically severe form of congenital heart disease (CHD). Case presentation Here, we report on the use of rapid prenatal whole-exome sequencing for the prenatal diagnosis of a severe case of neonatal recurrent HLHS caused by heterozygous compound variants in the MYH6 gene inherited from the (healthy) parents. MYH6 is known to be highly polymorphic; a large number of rare and common variants have variable effects on protein levels. We postulated that two hypomorphic variants led to severe CHD when associated in trans; this was consistent with the autosomal recessive pattern of inheritance. In the literature, dominant transmission of MYH6-related CHD is more frequent and is probably linked to synergistic heterozygosity or the specific combination of a single, pathogenic variant with common MYH6 variants. Conclusions The present report illustrates the major contribution of whole-exome sequencing (WES) in the characterization of an unusually recurrent fetal disorder and considered the role of WES in the prenatal diagnosis of disorders that do not usually have a genetic etiology.

Published
2023
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2. Aide médicale à la procréation, malformations congénitales et santé postnatale

Author

A. Bouazzaoui, E. Launay, A. Lokchine, C. Quélin, S. Duros, G.-L. Bouar, F. Rouget, F. Vialard, S. Odent, M.-A. Belaud-Rotureau, and S. Jaillard

Abstract

L’infertilité est considérée comme un problème de santé publique majeur, et le recours aux traitements de l’infertilité est en augmentation. Chaque année, 200 000 enfants naissent dans le monde et 1 enfant sur 30 en France grâce aux techniques d’assistance médicale à la procréation (AMP). L’incidence globale des malformations congénitales (MC), y compris les formes majeures, semble augmentée chez ces enfants par rapport à celle observée chez les enfants conçus spontanément. Le risque malformatif spécifique est également augmenté avec notamment l’implication des systèmes cardiovasculaire, urogénital, nerveux et musculosquelettique. Le risque de maladies liées à l’empreinte parentale apparaît également plus élevé chez les enfants conçus par AMP. Les techniques d’AMP pourraient avoir un impact délétère. Néanmoins, d’autres facteurs sont à prendre en compte tels que l’âge parental avancé, les facteurs à l’origine de l’infertilité et le mode de vie. L’impact de l’AMP sur la santé des individus qui en sont issus est une préoccupation majeure, notamment avec l’arrivée de la nouvelle loi de bioéthique qui ouvre un accès élargi à cette procédure et qui se traduira inévitablement par une augmentation du nombre de grossesses conçues par AMP. La poursuite des recherches sur les différentes techniques d’AMP et leurs conséquences sur la santé des enfants paraît indispensable, les données issues des registres régionaux des MC pourraient apporter une aide en ce sens.

Published
2022
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3. Whole-exome sequencing in patients with maturation arrest: a potential additional diagnostic tool for prevention of recurrent negative testicular sperm extraction outcomes

Author

F Ghieh, A L Barbotin, N Swierkowski-Blanchard, C Leroy, J Fortemps, C Gerault, C Hue, H Mambu Mambueni, S Jaillard, M Albert, M Bailly, V Izard, D Molina-Gomes, F Marcelli, J Prasivoravong, V Serazin, M N Dieudonne, M Delcroix, H J Garchon, A Louboutin, B Mandon-Pepin, S Ferlicot, F Vialard, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Hôpital Jeanne de Flandre [Lille], CHI Poissy-Saint-Germain, Infection et inflammation (2I), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Rennes (UR), CHU Pontchaillou [Rennes], EHESP-Irset (EHESP-Irset), École des Hautes Études en Santé Publique [EHESP] (EHESP), Institut National de la Santé et de la Recherche Médicale (INSERM), Service de gynécologie et obstétrique [CHI Poissy-Saint Germain], AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Université Paris-Saclay, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and The study was funded by the Fondation Maladies Rares (Paris, France), Merck (Kenilworth, NJ, USA), IRSF (Montigny le Bretonneux, France) and Agence de la Biomédecine (Saint Denis, France). There are no competing interests.

Subjects
Male, Comparative Genomic Hybridization, Sperm Retrieval, testicular sperm extraction, Rehabilitation, DNA Helicases, Nuclear Proteins, Obstetrics and Gynecology, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, Spermatozoa, Cohort Studies, DNA-Binding Proteins, spermatogenic arrest, consanguinity, Reproductive Medicine, Testis, Exome Sequencing, Trans-Activators, meiosis, non-obstructive azoospermia, Humans, whole-exome sequencing, RNA Helicases, Azoospermia, Retrospective Studies
Abstract

STUDY QUESTION Could whole-exome sequencing (WES) be useful in clinical practice for men with maturation arrest (MA) after a first testicular sperm extraction (TESE)? SUMMARY ANSWER WES in combination with TESE yields substantial additional information and may potentially be added as a test to predict a negative outcome of a recurrent TESE in patients with MA. WHAT IS KNOWN ALREADY At present, the only definitive contraindications for TESE in men with non-obstructive azoospermia (NOA) are a 46,XX karyotype and microdeletions in the azoospermia factor a (AZFa) and/or AZFb regions. After a first negative TESE with MA, no test currently exists to predict a negative outcome of a recurrent TESE. STUDY DESIGN, SIZE, DURATION In a cohort study, we retrospectively included 26 patients with idiopathic NOA caused by complete MA diagnosed after a first TESE. PARTICIPANTS/MATERIALS, SETTING, METHODS Twenty-six men with MA at the spermatocyte stage in all seminiferous tubules, according to a histopathological analysis performed independently by two expert histologists, and a normal karyotype (i.e. no AZF gene microdeletions on the Y chromosome) were included. Single-nucleotide polymorphism comparative genomic hybridization array and WES were carried out. The results were validated with Sanger sequencing. For all the variants thought to influence spermatogenesis, we used immunohistochemical techniques to analyse the level of the altered protein. MAIN RESULTS AND THE ROLE OF CHANCE Deleterious homozygous variants were identified in all seven consanguineous patients and in three of the 19 non-consanguineous patients. Compound heterozygous variants were identified in another 5 of the 19 non-consanguineous patients. No recurrent variants were identified. We found new variants in genes known to be involved in azoospermia or MA [including testis expressed 11 (TEX11), meiotic double-stranded break formation protein 1 (MEI1), proteasome 26s subunit, ATPase 3 interacting protein (PSMC3IP), synaptonemal complex central element protein 1 (SYCE1) and Fanconi anaemia complementation group M (FANCM) and variants in genes not previously linked to human MA (including CCCTC-binding factor like (CTCFL), Mov10 like RISC complex RNA helicase 1 (MOV10L1), chromosome 11 open reading frame 80 (C11ORF80) and exonuclease 1 (EXO1)]. LARGE SCALE DATA Data available on request LIMITATIONS, REASONS FOR CAUTION More data are required before WES screening can be used to avoid recurrent TESE, although screening should be recommended for men with a consanguineous family background. WES is still a complex technology and can generate incidental findings. WIDER IMPLICATIONS OF THE FINDINGS Our results confirmed the genetic aetiology of MA in most patients: the proportion of individuals with at least one pathologic variant was 50% in the overall study population and 100% in the consanguineous patients. With the exception of MEI1 (compound heterozygous variants of which were identified in two cases), each variant corresponded to a specific gene—confirming the high degree of genetic heterogeneity in men with MA. Our results suggest that WES screening could help to avoid recurrent, futile TESE in men with MA in general and in consanguineous individuals in particular, but these results need to be confirmed in future studies before clinical implementation. STUDY FUNDING/COMPETING INTEREST(S) The study was funded by the Fondation Maladies Rares (Paris, France), Merck (Kenilworth, NJ, USA), IRSF (Montigny le Bretonneux, France) and Agence de la Biomédecine (Saint Denis, France). There are no competing interests. TRIAL REGISTRATION NUMBER N/A.

Published
2022
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5. Prenatal diagnosis of 2q13 duplications: The crucial role of the family survey in genetic counseling on novel copy number variations

Author

Bérénice Hervé, Thibaud Quibel, Rodolphe Dard, D. Molina-Gomes, F. Vialard, Sophie Roy, Hela Bellil, centre hospitalier intercommunal de Poissy/Saint-Germain-en-Laye - CHIPS [Poissy], Université de Versailles Saint-Quentin-en-Yvelines - UFR Sciences de la santé Simone Veil (UVSQ Santé), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Service de gynécologie et obstétrique [CHI Poissy-Saint Germain], and CHI Poissy-Saint-Germain

Subjects
0301 basic medicine, Genetic counseling, Prenatal diagnosis, Locus (genetics), 030105 genetics & heredity, Biology, 03 medical and health sciences, Intellectual disability, Gene duplication, Genetics, medicine, Copy-number variation, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), Inheritance, Variant of unknown significance, Susceptibility locus, General Medicine, medicine.disease, Penetrance, 3. Good health, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, 2q13 microduplication, Comparative genomic hybridization
Abstract

International audience; In recent years, the introduction of novel genome analysis technologies (such as array comparative genomic hybridization) has enabled the prenatal diagnosis of various recurrent copy number variations (CNVs). Some of these CNVs have been linked to a greater susceptibility of developmental and neuropsychiatric disorders; for example, recurrent duplication at the 2q13 locus is associated with developmental delay, dysmorphism and intellectual disability. However, this CNV has low penetrance and variable clinical expressivity. It also can be observed in healthy controls and can be transmitted by unaffected parents, making genetic counseling especially challenging. Here, we report on the inheritance of a 2q13 duplication in an asymptomatic family; the case highlights the role of the family survey in genetic counseling with regard to novel CNVs diagnosed before birth.

Published
2020
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8. [Does the prevalence of recurrent pathogenic microdeletions and microdoublements in prenatal diagnosis lead to a reassessment of the evolution of non-invasive screening techniques? The example of region 22q11.2]

Author

F, Vialard, C, Rouillac-Le Sciellour, J, Besseau-Ayasse, C, Oheix, B, Hervé, and D, Molina-Gomes

Subjects
Heart Defects, Congenital, Phenotype, Pregnancy, Chromosomes, Human, Pair 22, Prenatal Diagnosis, DiGeorge Syndrome, Prevalence, Humans, Female, Chromosome Deletion, Gene Deletion, In Situ Hybridization, Fluorescence
Published
2016

9. ANDROLOGY

Author

J. C. Y. Hu, B. K. Seo, Q. V. Neri, Z. Rozenwaks, G. D. Palermo, T. Fields, D. Monahan, Z. Rosenwaks, P. Szkodziak, K. Plewka, S. Wozniak, P. Czuczwar, A. Mroczkowski, C. Lorenzo Leon, J. Hernandez, E. Chinea Mendez, C. Concepcion Lorenzo, V. Sanabria Perez, M. Puopolo, A. Palumbo, B. Toth, C. Franz, M. Montag, A. Boing, T. Strowitzki, R. Nieuwland, G. Griesinger, A. Schultze-Mosgau, T. Cordes, M. Depenbusch, K. Diedrich, V. Vloeberghs, G. Verheyen, M. Camus, H. Van de Velde, A. Goossens, H. Tournaye, G. Coppola, G. Di Caprio, M. Wilding, P. Ferraro, G. Esposito, L. Di Matteo, R. Dale, B. Dale, S. Daoud, J. Auger, J. P. Wolf, E. Dulioust, R. Lafuente, G. Lopez, M. Brassesco, M. Hamad, M. Montenarh, M. Hammadeh, F. Robles, M. C. Magli, A. Crippa, E. Pescatori, A. P. Ferraretti, L. Gianaroli, M. Zahiri, M. Movahedin, S. J. Mowla, M. Noruzinia, A. M. Crivello, N. Sermondade, C. Dupont, E. Hafhouf, I. Cedrin-Durnerin, C. Poncelet, B. Benzacken, R. Levy, C. Sifer, F. Ferfouri, F. Boitrelle, P. Clement, D. Molina Gomes, M. Bailly, J. Selva, F. Vialard, E. Yaprak, M. Basar, E. Guzel, O. Arda, T. Irez, P. Norambuena, P. Krenkova, F. Tuettelmann, S. Kliesch, P. Paulasova, A. Stambergova, M. Macek, R. Rivera, T. Garrido-Gomez, S. Galletero, M. Meseguer, F. Dominguez, N. Garrido, C. Mallidis, V. Sanchez, L. Weigeng, K. Redmann, J. Wistuba, P. Gross, F. Wuebbelling, C. Fallnich, M. Burger, S. Schlatt, M. San Celestino Carchenilla, A. Pacheco Castro, P. Simon Sanjurjo, A. Molinero Ballesteros, S. Rubio Garcia, J. A. Garcia Velasco, B. Macanovic, V. Otasevic, A. Korac, M. Vucetic, E. Garalejic, I. Ivanovic Burmazovic, M. R. Filipovic, B. Buzadzic, A. Stancic, A. Jankovic, K. Velickovic, I. Golic, M. Markelic, B. Korac, J. Gosalvez, M. Ruiz-Jorro, C. Garcia-Ochoa, P. Sachez-Martin, M. Martinez-Moya, P. Caballero, N. Hasegawa, N. Fukunaga, R. Nagai, H. Kitasaka, T. Yoshimura, F. Tamura, M. Kato, K. Nakayama, H. Oono, E. Kojima, K. Yasue, H. Watanabe, E. Asano, Y. Hashiba, Y. Asada, M. Das, N. Al-Hathal, M. San-Gabriel, S. Phillips, I. J. Kadoch, F. Bissonnette, H. Holzer, A. Zini, A. G. Zebitay, P. Ocal, S. Sahmay, S. Karahuseyinoglu, T. Usta, S. Repping, S. Silber, M. Van Wely, A. Datta, K. Nayini, A. Eapen, S. Barlow, G. Lockwood, R. Tavares, M. Baptista, S. J. Publicover, J. Ramalho-Santos, D. Vaamonde, I. Rodriguez, A. Diaz, C. Darr, V. Chow, S. Ma, R. Smith, F. Jeria, J. Rivera, F. Gabler, H. Nicolai, M. Cunha, P. Viana, A. Goncalves, J. Silva, C. Oliveira, J. Teixeira da Silva, L. Ferraz, C. Madureira, S. Doria, M. Sousa, A. Barros, M. B. Herrero, G. Delbes, E. Troueng, P. T. K. Chan, L. Vingris, A. S. Setti, D. P. A. F. Braga, R. C. S. Figueira, A. Iaconelli, E. Borges, A. Sargin Oruc, C. Gulerman, T. Zeyrek, N. Yilmaz, D. Tuzcuoglu, N. Cicek, F. Scarselli, M. Terribile, G. Franco, D. Zavaglia, D. Dente, V. Zazzaro, T. Riccio, M. G. Minasi, E. Greco, A. Cejudo-Roman, C. G. Ravina, L. Candenas, M. Gallardo-Castro, D. Martin-Lozano, M. Fernandez-Sanchez, F. M. Pinto, A. Balasuriya, P. Serhal, A. Doshi, J. Harper, L. Romany, J. L. Fernandez, A. Pellicer, J. Ribas-Maynou, A. Garcia-Peiro, A. Fernandez-Encinas, E. Prada, I. Jorda, P. Cortes, M. Llagostera, J. Navarro, J. Benet, H. Kesici, S. Cayli, F. Erdemir, Z. Karaca, H. Aslan, S. Ocakli, U. Tas, A. A. Ozdemir, R. G. Aktas, O. E. Tok, S. Li, C. Lu, Y. Hwu, R. K. Lee, I. Landaburu, M. C. Gonzalvo, A. Clavero, J. P. Ramirez, S. Pedrinaci, M. Serrano, L. Montero, S. Carrillo, J. Weiss, A. P. Ortiz, J. A. Castilla, O. Sahin, E. Bakircioglu, M. Serdarogullari, A. Bayram, S. Yayla, U. Ulug, S. B. Tosun, M. Bahceci, S. Y. Yoon, D. H. Shin, T. E. Shin, E. A. Park, H. J. Won, Y. S. Kim, W. S. Lee, T. K. Yoon, D. R. Lee, H. Hattori, Y. Nakajo, T. Kyoya, M. Kuchiki, S. Kanto, K. Kyono, M. Park, M. R. Park, E. J. Lim, Y. Choi, A. Mitra, J. Bhattacharya, A. Kundu, D. Mukhopadhaya, M. Pal, M. Enciso, S. Alfarawati, D. Wells, C. Abad, M. J. Amengual, V. Esmaeili, M. Safiri, A. H. Shahverdi, A. R. Alizadeh, B. Ebrahimi, A. M. Brucculeri, G. Ruvolo, L. Giovannelli, R. Schillaci, E. Cittadini, G. Scaravelli, A. Perino, S. Cortes Gallego, A. Gabriel Segovia, R. Nunez Calonge, A. Guijarro Ponce, L. Ortega Lopez, P. Caballero Peregrin, B. Heindryckx, J. Kashir, C. Jones, G. Mounce, W. M. Ramadan, B. Lemmon, P. De Sutter, J. Parrington, K. Turner, T. Child, E. McVeigh, K. Coward, S. Tosun, N. Ciray, S. Saeidi, F. Shapouri, H. Hoseinifar, M. Sabbaghian, A. Pacey, R. Aflatoonian, L. Bosco, L. Carrillo, A. Pane, M. Manno, M. C. Roccheri, E. Selles, S. Garcia-Herrero, J. A. Martinez, M. Munoz, A. Durmaz, N. Dikmen, C. Gunduz, E. Tavmergen Goker, E. Tavmergen, D. Gozuacik, H. S. Vatansever, B. Kara, N. Calimlioglu, P. Yasar, B. Semerci, M. Baka, K. Ozbilgin, A. Karabulut, A. Tekin, B. Sabah, V. Cottin, D. Kottelat, M. Fellmann, S. Halm, E. Rosenthaler, T. Kisida, F. Kojima, T. Sakamoto, V. A. Makutina, S. L. Balezin, O. F. Rosly, T. V. Slishkina, E. Hatzi, L. Lazaros, N. Xita, G. Makrydimas, N. Sofikitis, A. Kaponis, T. Stefos, K. Zikopoulos, I. Georgiou, H. Hibi, T. Ohori, M. Sumitomo, C. Anarte, I. Calvo, A. Domingo, N. Presilla, M. Aleman, R. Bou, F. Guardiola, J. A. Agirregoikoa, J. L. De Pablo, G. Barrenetxea, I. Zhylkova, O. Feskov, I. Feskova, O. Zozulina, O. Somova, A. Nabi, M. A. Khalili, F. Roudbari, L. Parmegiani, G. E. Cognigni, S. Bernardi, S. Taraborrelli, E. Troilo, W. Ciampaglia, P. Pocognoli, F. E. Infante, C. Tabarelli de fatis, A. Arnone, A. M. Maccarini, M. Filicori, L. Silva, J. B. A. Oliveira, C. G. Petersen, A. L. Mauri, F. C. Massaro, M. Cavagna, R. L. R. Baruffi, J. G. Franco, Y. Fujii, Y. Endou, H. Mtoyama, S. Shokri, and R. J. Aitken

Subjects
Reproductive Medicine, Rehabilitation, Obstetrics and Gynecology
Published
2012
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10. Contents Vol. 133, 2011

Author

M. De Braekeleer, K.G.L. Fonseka, T. Voet, M. Yerle, D. Wells, A. Kanesky, J. Navarro, L. Ramos, J. Riquet, J.L. Barbero, A. Estop, M. Regev, D.K. Griffin, Satz Mengensatzproduktion, F. Morel, N. Mary, U. Eichenlaub-Ritter, F. Vidal, A.L. Marston, O. Reish, A. Pinton, Franck Pellestor, V. Amice, M.-J. Le Bris, M. Bordedebat, C. Templado, I. Matos, A. Mantzouratou, S. Girafi, A. Basinko, F. Pacchierotti, I. Lebedev, H. Barasc, J. Selva, N. Gueganic, I. Raymond Letron, F. Vialard, J.R. Vermeesch, N. Douet-Guilbert, N. Bonnet, D. Gisselsson, E. Fragouli, A. Ducos, A. Calgaro, Druck Reinhardt Druck Basel, Joy D. A. Delhanty, J.D.A. Delhanty, K. Feve, A.M. Dudez, M. Mashevich, H. Homer, A. Obradors, D. Molina-Gomes, F. Boitrelle, G. Daina, H. Maiato, K. Massip, A. Perrin, J. Benet, D. Clift, E. Vanneste, M. Rius, and D. Ioannou

Subjects
Botany, Genetics, Biology, Molecular Biology, Genetics (clinical)
Published
2011
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11. POSTER VIEWING SESSION - ANDROLOGY

Author

E. C. Dul, C. M. A. van Ravenswaaij-Arts, H. Groen, J. van Echten-Arends, J. A. Land, Y. Tyulenev, V. Naumenko, L. Kurilo, L. Shileiko, A. Segal, R. Klimova, A. Kushch, J. Ribas-Maynou, A. Garcia-Peiro, C. Abad, M. J. Amengual, J. Benet, J. Navarro, A. Colasante, A. M. Lobascio, F. Scarselli, M. G. Minasi, E. Alviggi, P. Rubino, V. Casciani, R. Pena, M. T. Varricchio, K. Litwicka, S. Ferrero, D. Zavaglia, G. Franco, Z. P. Nagy, E. Greco, L. Romany, M. Meseguer, S. Garcia-Herrero, A. Pellicer, N. Garrido, A. Dam, A. Pijnenburg, J. C. Hendriks, J. R. Westphal, L. Ramos, J. A. M. Kremer, F. Eertmans, V. Bogaert, B. Puype, W. Geisler, C. Clusmann, I. Klopsch, T. Strowitzki, W. Eggert-Kruse, R. Maettner, E. Isachenko, V. Isachenko, E. Strehler, K. Sterzik, G. Band, I. Madgar, H. Brietbart, Z. Naor, J. S. Cunha-Filho, C. A. Souza, V. G. Krebs, K. D. Santos, W. J. Koff, A. Stein, I. Hammoud, M. Albert, M. Bergere, M. Bailly, F. Boitrelle, F. Vialard, R. Wainer, V. Izard, J. Selva, P. Cohen - Bacrie, S. Belloc, J. de mouzon, M. Cohen-Bacrie, S. Alvarez, A. M. Junca, M. Dumont, S. Douard, N. Prisant, K. Tomita, S. Hashimoto, Y. Akamatsu, M. Satoh, R. Mori, T. Inoue, Y. Ohnishi, K. Ito, Y. Nakaoka, Y. Morimoto, V. J. H. Smith, K. K. Ahuja, F. Atig, M. Raffa, M. T. Sfar, A. Saad, M. Ajina, D. P. A. F. Braga, G. Halpern, R. C. S. Figueira, A. S. Setti, A. Iaconelli Jr., E. Borges Jr., G. S. Medeiros, E. B. Pasqualotto, F. F. Pasqualotto, M. Nadalini, N. Tarozzi, M. Di Santo, A. Borini, C. Lopez-Fernandez, F. Arroyo, P. Caballero, R. Nunez-Calonge, J. L. Fernandez, J. Gosalvez, A. Gosalbez, S. Cortes, K. Zikopoulos, L. Lazaros, G. Vartholomatos, A. Kaponis, G. Makrydimas, N. Plachouras, N. Sofikitis, S. Kalantaridou, E. Hatzi, I. Georgiou, J. de Mouzon, E. Amar, P. Cohen-Bacrie, M. L. Vuillaume, F. Brugnon, C. Artonne, L. Janny, H. Pons-Rejraji, J. Fedder, L. Bosco, G. Ruvolo, A. M. Bruccoleri, M. Manno, M. C. Roccheri, E. Cittadini, I. Bochev, P. Gavrilov, S. Kyurkchiev, A. Shterev, G. Carlomagno, M. Colone, R. A. Condorelli, A. Stringaro, A. E. Calogero, J. Zakova, M. Kralikova, I. Crha, P. Ventruba, J. Melounova, M. Matejovicova, M. Vodova, E. Lousova, M. Sanchez Toledo, C. Alvarez LLeo, C. Garcia Garrido, M. Resta Serra, L. L. Belmonte Andujar, G. Gonzalez de Merlo, M. Pohanka, M. Huser, I. Amiri, J. Karimi, M. T. Goodarzi, H. Tavilani, A. Filannino, M. C. Magli, E. Boudjema, A. Crippa, A. P. Ferraretti, L. Gianaroli, F. Robles, H. Huang, D. J. Yao, H. J. Huang, J. R. Li, S. K. Fan, M. L. Wang, S. Yung-Kuei, S. Amer, A. Mahran, J. Darne, R. Shaw, E. Borghi, C. Cetera, U. Shukla, D. Ogutu, B. Deval, M. Jansa, M. Savvas, N. Narvekar, P. Houska, A. L. Dackland, L. Bjorndahl, U. Kvist, L. Muzii, B. Barboni, L. Samanta, S. Kar, S. A. Yakovenko, M. N. Troshina, B. K. Rutman, S. A. Dyakonov, E. Holmes, C. Feijo, S. Verza Junior, S. C. Esteves, C. L. Berta, A. M. Caille, S. A. Ghersevich, C. Zumoffen, M. J. Munuce, M. San Celestino, D. Agudo, M. Alonso, P. Sanjurjo, D. Becerra, F. Bronet, J. A. Garcia-Velasco, A. Pacheco, R. Lafuente, G. Lopez, M. A. Checa, R. Carreras, M. Brassesco, M. Oneta, V. Savasi, B. Parrilla, D. Guarneri, A. Laureti, F. Pagano, I. Cetin, E. Ekwurtzel, G. Morgante, P. Piomboni, A. Stendardi, F. Serafini, V. De Leo, R. Focarelli, M. Benkhalifa, J. De Mouzon, F. Entezami, A. Junca, J. J. De Mouzon, A. Mangiarini, E. Capitanio, A. Paffoni, L. Restelli, C. Guarneri, C. Scarduelli, G. Ragni, K. Harrison, J. Irving, N. Martin, D. Sherrin, A. Yazdani, C. Almeida, S. Correia, E. Rocha, A. Alves, M. Cunha, L. Ferraz, S. Silva, M. Sousa, A. Barros, A. Perdrix, A. Travers, J. P. Milazzo, F. Clatot, N. Mousset-Simeon, B. Mace, N. Rives, H. S. Clarke, A. Callow, D. Saxton, A. A. Pacey, O. Sapir, G. Oron, A. Ben-Haroush, R. Garor, D. Feldberg, H. Pinkas, A. Wertheimer, B. Fisch, E. Palacios, M. C. Gonzalvo, A. Clavero, J. P. Ramirez, A. Rosales, J. Mozas, J. A. Castilla, J. Mugica, O. Ramon, A. Valdivia, A. Exposito, L. Casis, R. Matorras, R. Bongers, F. Gottardo, M. Zitzmann, S. Kliesch, T. Cordes, A. Kamischke, A. Schultze-Mosgau, N. Buendgen, K. Diedrich, G. Griesinger, L. Crisol, F. Aspichueta, M. L. Hernandez, J. I. Ruiz-Sanz, R. Mendoza, A. A. Sanchez-Tusie, A. Bermudez, P. Lopez, G. C. Churchill, C. L. Trevino, I. Maldonado, and J. Dabbah

Subjects
medicine.medical_specialty, Reproductive Medicine, Rehabilitation, medicine, Obstetrics and Gynecology, Medical physics, Session (computer science), Psychology
Published
2011
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12. Andrology (Male Fertility, Spermatogenesis)

Author

Y. Matsumoto, S. Goto, H. Hashimoto, S. Kokeguchi, M. Shiotani, H. Okada, P. Cohen - Bacrie, A. Hazout, S. Belloc, J. De Mouzon, Y. Menezo, M. Dumont, A. M. Junca, M. Cohen-Bacrie, S. Alvarez, F. Olivennes, N. Prisant, M. Weltin, W. Geissler, C. Clussmann, T. Strowitzki, W. Eggert-Kruse, Y. Endou, Y. Fjii, H. Motoyama, F. Q. Quintana, Z. L. Zaloa Larreategui, I. P. Iratxe Penalba, S. O. Sara Ortega, M. M. Monica Martin, G. Q. Guillermo Quea, J. S. Jose Serna, M. G. Showell, J. Brown, A. Yazdani, M. T. Stankiewicz, R. J. Hart, C. Zumoffen, M. J. Munuce, A. Caille, S. Ghersevich, A. M. Lendinez, B. Perez-Nevot, A. R. Palomares, A. Serrano Garballo, A. Rodriguez, A. Reche, A. Mayor-Olea, M. Ruiz-Galdon, A. Reyes-Engel, J. Mendiola, N. Jorgensen, A. M. Andersson, A. M. Calafat, J. B. Redmon, E. Z. Drobnis, C. Wang, A. Sparks, S. W. Thurston, F. Liu, S. H. Swan, A. C. Tarasconi, B. V. Tarasconi, D. V. Tarasconi, E. M. V. Silva, Y. Fujii, I. Crha, J. Pribyl, P. Skladal, J. Zakova, P. Ventruba, M. Pohanka, G. De La Fuente, A. Pacheco, J. A. G. Velasco, A. Requena, A. Pacheco Castro, M. San Celestino Carchenilla, R. Salvanes, A. Arnanz, C. Balmori, A. Pellicer, J. A. Garcia-Velasco, T. Ishikawa, M. Fujisawa, S. Kranz, K. Hersemeyer, A. Hentrich, H. R. Tinneberg, L. Konrad, L. Simon, D. Lutton, J. McManus, S. E. M. Lewis, S. Rubio, P. Simon Sanjurjo, S. Lewis, J. Buzzi, A. Valcarcel, E. Lombardi, R. Oses, V. Rawe, E. Young, A. Magendzo, S. Lizama, G. Duque, A. Mackenna, A. Monqaut, C. Zavaleta, G. Lopez, R. Lafuente, M. Brassesco, R. Condorelli, S. La Vignera, S. La Rosa, N. Barone, E. Vicari, S. Bellanca, R. D'Agata, A. E. Calogero, M. Enciso, M. Iglesias, I. Galan, A. Gosalvez, J. Gosalvez, M. Curaba, J. Poels, A. Van Langendonckt, J. Donnez, C. Wyns, M. Garcez, M. Salvador, E. B. Pasqualotto, D. P. A. F. Braga, E. Borges, F. F. Pasqualotto, T. Aoki, R. C. S. Figueira, L. G. L. Maldonado, A. Iaconelli, R. Frassini, J. Mandelli, A. S. Setti, S. S. Cortezzi, M. Di Mauro, N. Burrello, J. Kashir, C. Jones, C. Young, M. Ruas, P. Grasa, K. Rietdorf, E. Heytens, B. Heindryckx, S. Y. Yoon, R. A. Fissore, C. M. Deane, D. Nikiforaki, S. T. Tee, P. de Sutter, J. Parrington, K. Coward, L. Visser, G. H. Westerveld, S. K. M. van Daalen, F. van der Veen, M. P. Lombardi, S. Repping, S. Cubillos, S. Sanchez, J. Pedraza, G. Charria, H. Aparicio, A. Gongora, F. Caldino, S. Cuneo, J. P. Ou, W. E. Zhao, Y. F. Liu, Y. W. Xu, C. Q. Zhou, N. Al-Asmar Pinar, V. Peinado, J. Gruhn, M. Susiarjo, M. Gil-Salom, J. M. Martinez-Jabaloyas, J. Remohi, C. Rubio, T. Hassold, N. Al-Asmar, L. Rodrigo, T. J. Hassold, M. Bungum, N. Forsell, A. Giwercman, I. Amiri, N. Sheikh, R. Najafi, M. Godarzi, M. Farimani, H. Makukh, M. Tyrkus, D. Zastavna, A. Nakonechnuy, S. S. Khayat, L. V. Schileiko, L. F. Kurilo, S. Garcia-Herrero, N. Garrido, J. A. Martinez-Conejero, L. Romany, M. Meseguer, B. Dorphin, M. Lefevre, C. Gout, P. Oger, C. Yazbeck, N. Rougier, S. De Stefani, V. Scala, S. Benedetti, M. C. Tagliamonte, E. Zavagnini, S. Palini, C. Bulletti, F. Canestrari, N. Subiran, F. M. Pinto, M. L. Candenas, E. Agirregoitia, J. Irazusta, E. M. Cha, J. H. Lee, I. H. Park, K. H. Lee, M. H. Kim, M. S. Jensen, C. Rebordosa, A. M. Thulstrup, G. Toft, H. T. Sorensen, J. P. Bonde, T. B. Henriksen, J. Olsen, L. Bosco, M. Speciale, M. Manno, N. Amireh, M. C. Roccheri, E. Cittadini, P. Wu, Y. M. Lee, H. W. Chen, C. R. Tzeng, J. Llacer, J. Ten, B. Lledo, A. Rodriguez-Arnedo, R. Morales, R. Bernabeu, A. Garcia-Peiro, J. Martinez-Heredia, M. Oliver-Bonet, J. Ribas, C. Abad, M. J. Amengual, J. Navarro, J. Benet, C. Moutou, N. Gardes, J. C. Nicod, N. Becker, M. P. Bailly, I. Galland, O. Pirello, C. Rongieres, C. Wittemer, S. Viville, W. Elmahaishi, B. Smith, A. Doshi, P. Serhal, J. C. Harper, C. Rennemeier, U. Kammerer, J. Dietl, P. Staib, K. Elgmati, M. Nomikos, M. Theodoridou, B. Calver, K. Swann, F. A. Lai, I. Georgiou, L. Lazaros, N. Xita, A. Kaponis, N. Plachouras, E. Hatzi, K. Zikopoulos, F. Ferfouri, P. Clement, D. Molina Gomes, M. Albert, M. Bailly, R. Wainer, J. Selva, F. Vialard, T. Takisawa, K. Usui, T. Kyoya, Y. Shibuya, H. Hattori, Y. Sato, M. Ota, K. Kyono, P. C. Chiu, K. K. Lam, C. L. Lee, M. K. Chung, V. W. Huang, W. S. O, F. Tang, P. C. Ho, W. S. Yeung, C. H. Kim, J. Y. Lee, S. H. Kim, C. S. Suh, Y. K. Shin, Y. J. Kang, J. H. Jung, C. Y. Cha, E. S. Hwang, T. Mukaida, M. Nagaba, K. Takahashi, D. Elkaffash, M. Sedrak, I. Huhtaniemi, T. Abdel-Al, D. Younan, N. G. Cassuto, D. Bouret, I. Hammoud, Y. Barak, S. Seshadri, M. Bates, G. Vince, D. I. Jones, M. Ben Khalifa, D. Montjean, P. Cohen-Bacrie, F. X. Aubriot, M. Cohen, E. Boudjema, M. C. Magli, A. Crippa, B. Baccetti, A. P. Ferraretti, L. Gianaroli, T. Singer, Q. V. Neri, J. C. Hu, R. Maggiulli, Z. Kollman, E. Rauch, P. N. Schlegel, Z. Rosenwaks, G. D. Palermo, B. Zorn, B. Skrbinc, E. Matos, B. Golob, M. Pfeifer, J. Osredkar, E. Sabanegh, R. K. Sharma, A. Thiyagarajan, A. Agarwal, G. Robin, F. Boitrelle, F. Marcelli, C. Marchetti, V. Mitchell, D. Dewailly, J. M. Rigot, N. Rives, A. Perdrix, A. Travers, J. P. Milazzo, N. Mousset-Simeon, B. Mace, A. Jakab, Z. Molnar, M. Benyo, I. Levai, Z. Kassai, A. Ihan, A. Kopitar, M. Kolbezen, D. Vaamonde, M. E. Da Silva-Grigoletto, J. M. Garcia-Manso, R. Vaamonde-Lemos, S. C. Oehninger, G. Walis, D. Monahan, E. Ermolovich, E. Fadlon, A. Abu Elhija, M. Abu Elhija, E. Lunenfeld, M. Huleihel, M. Costantini-Ferrando, J. C. Y. Hu, J. G. Alvarez, E. Velilla, M. Lopez-Teijon, C. Lopez-Fernandez, H. G. Tempest, F. Sun, E. Ko, P. Turek, R. H. Martin, M. T. Zomeno-Abellan, A. Ramirez, A. Gutierrez-Adan, J. C. Martinez, J. Landeras, J. Ballesta, M. Aviles, M. Ganaiem, S. Binder, A. Meinhardt, L. Sousa, A. Grangeia, F. Carvalho, M. Sousa, A. Barros, C. Sifer, N. Sermondade, E. Hafhouf, C. Poncelet, B. Benzacken, R. Levy, J. P. Wolf, L. Crisol, F. Aspichueta, M. L. Hernandez, A. Exposito, R. Matorras, M. B. Ruiz-Larrea, J. I. Ruiz-Sanz, S. Jallad, F. Atig, H. Ben Amor, A. L. I. Saad, A. Kerkeni, M. Ajina, A. L. I. Othmane, I. Koscinski, L. Ladureau, F. Scarselli, V. Casciani, M. Lobascio, M. G. Minasi, P. Rubino, A. Colasante, L. Arizzi, K. Litwicka, E. Iammarrone, S. Ferrero, C. Mencacci, G. Franco, D. Zavaglia, Z. P. Nagy, E. Greco, S. Ohgi, M. Takahashi, C. Kishi, K. Suga, A. Yanaihara, L. W. Chamley, A. Wagner, and A. N. Shelling

Subjects
Andrology, Reproductive Medicine, Phospholipase C, Point mutation, Rehabilitation, Obstetrics and Gynecology, Identification (biology), Biology, Sperm, Gene, Molecular biology
Published
2010
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13. Intérêt de la cytogénétique des gamètes humains : résultats et perspectives

Author

F. Vialard and F. Pellestor

Subjects
Infertility, medicine.medical_specialty, Pregnancy, Cytogenetics, Aneuploidy, Karyotype, General Medicine, Biology, medicine.disease, Andrology, Polar body, Nondisjunction, medicine, Sister chromatids
Abstract

In man, the incidence of reproductive failures is high and chromosomal abnormalities remains the major cause of pregnancy wastage. The advent of molecular cytogenetic techniques and assisted reproduction technology have brought forth new approaches for the chromosomal analysis of human oocytes and spermatozoa. The oocyte analyses have evidenced the high rate of chromosomal abnormalities in women and identified premature separation of sister chromatid as a major mechanism in aneuploidy occurrence. High frequencies of aneuploidy have been found in various groups of women, such as patients over 35 or 38 years old, patients with recurrent implantation failures or recurrent miscarriages. The polar body analysis has confirmed the major contribution of premature separation of sister chromatids in aneuploidies and the effect of maternal ageing on its occurrence. In spermatozoa, the efficient adaptation of in situ chromosomal detection techniques has facilitated the segregation analysis of chromosomal abnormalities. Despite the consensus observed in sperm studies of robertsonnian translocations and inversions, new data are required for accurate estimates of imbalances in various types of structural rearrangements. For infertile patients with normal karyotypes, there is significant increase in aneuploidy frequencies, which can be extremely elevated in some groups of subjects, such as patients with large headed spermatozoa syndrome.

Published
2008
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14. Prenatal BACs-on-Beads (TM): the prospective experience of five prenatal diagnosis laboratories

Author

F. Vialard, G. Simoni, D. M. Gomes, A. Abourra, S. D. Toffol, F. Bru, M. C. Martinez, P. Bouhanna, L. Marcato, T. Popowski, B. Grimi, J. A. Martinez Conejero, B. Benzacken, R. Genesio, F. R. Grati, NITSCH, LUCIO, F., Vialard, G., Simoni, D. M., Gome, A., Abourra, S. D., Toffol, F., Bru, M. C., Martinez, Nitsch, Lucio, P., Bouhanna, L., Marcato, T., Popowski, B., Grimi, J. A., Martinez Conejero, B., Benzacken, R., Genesio, and F. R., Grati

Abstract

Objective We previously reported on the validation of Prenatal BACs-on-Beads (TM) on retrospectively selected and prospective prenatal samples. This bead-based multiplex assay detects chromosome 13, 18, 21 and X/Y aneuploidies and the nine most frequent microdeletion syndromes. We demonstrated that Prenatal BACs-on-Beads (TM) is a new-generation, prenatal screening tool. Here, we describe the experience of five European prenatal diagnosis laboratories concerning the ongoing use of Prenatal BACs-on-Beads (TM). Methods Some 1653 samples were analyzed. All results were confirmed by conventional karyotyping or another appropriate technique. All indications for invasive prenatal diagnosis were included. Amniotic fluid and chorionic villus samples were analyzed in equivalent proportions. Results The failure rate was 3.3% and the overall abnormality detection rate was similar to 1/10. Eighty-five percent of the detected abnormalities were common aneuploidies. Eleven microdeletions and duplications were identified, thus giving an overall yield for microdeletion and microduplication detection of 1/145. Compared with QF-PCR, Prenatal BACs-on-Beads (TM) provides an additional detection rate of similar to 1/250 for low-risk pregnancies. The false positive and negative rates were both

Published
2012

16. [Early recurrent miscarriage: Evaluation and management]

Author

V, Gallot, S, Nedellec, P, Capmas, G, Legendre, V, Lejeune-Saada, D, Subtil, J, Nizard, J, Levêque, X, Deffieux, B, Hervé, and F, Vialard

Subjects
Abortion, Habitual, Pregnancy, Practice Guidelines as Topic, Humans, Female
Abstract

To establish recommendations for early recurrent miscarriages (≥3 miscarriages before 14weeks of amenorrhea).Literature review, establishing levels of evidence and recommendations for grades of clinical practice.Women evaluation includes the search for a diabetes (grade A), an antiphospholipid syndrome (APS) (grade A), a thyroid dysfunction (grade A), a hyperprolactinemia (grade B), a vitamin deficiency and a hyperhomocysteinemia (grade C), a uterine abnormality (grade C), an altered ovarian reserve (grade C), and a couple chromosome analysis (grade A). For unexplained early recurrent miscarriages, treatment includes folic acid and progesterone supplementation, and a reinsurance policy in the first quarter (grade C). It is recommended to prescribe the combination of aspirin and low-molecular-weight heparin when APS (grade A), glycemic control in diabetes (grade A), L-Thyroxine in case of hypothyroidism (grade A) or the presence of thyroid antibodies (grade B), bromocriptine if hyperprolactinemia (grade B), a substitution for vitamin deficiency or hyperhomocysteinemia (grade C), sectionning a uterine septum (grade C) and treating an uterine acquired abnormality (grade C).These recommendations should improve the management of couples faced with early recurrent miscarriages.

Published
2014

17. [Epidemiology of loss pregnancy]

Author

A, Delabaere, C, Huchon, X, Deffieux, G, Beucher, V, Gallot, S, Nedellec, F, Vialard, X, Carcopino, T, Quibel, D, Subtil, C, Barasinski, D, Gallot, F, Vendittelli, H, Laurichesse-Delmas, and D, Lémery

Subjects
Abortion, Spontaneous, Pregnancy, Pregnancy Outcome, Humans, Female, Fetal Death
Abstract

Study of epidemiology of pregnancy loss.A systematic review of the literature was performed using Pubmed and the Cochrane library databases and the guidelines from main international societies.The occurrence of first trimester miscarriage is 12% of pregnancies and 25% of women. Miscarriage risk factors are ages of woman and man, body mass index greater than or equal to 25kg/m(2), excessive coffee drinking, smoking and alcohol consumption, exposure to magnetic fields and ionizing radiation, history of abortion, some fertility disorders and impaired ovarian reserve. Late miscarriage (LM) complicates less than 1% of pregnancies. Identified risk factors are maternal age, low level of education, living alone, history of previous miscarriage, of premature delivery and of previous termination of pregnancy, any uterine malformation, trachelectomy, existing bacterial vaginosis, amniocentesis, a shortened cervix and a dilated cervical os with prolapsed membranes. Fetal death in utero has a prevalence of 2% in the world and 5/1000 in France. Its main risk factors are detailed in the chapter.

Published
2014

18. [Pregnancy losses: Guidelines for clinical practice. Short text]

Author

C, Huchon, X, Deffieux, G, Beucher, X, Carcopino, N, Costedoat-Chalumeau, A, Delabaere, P, Capmas, V, Gallot, E, Iraola, V, Lavoue, G, Legendre, V, Lejeune-Saada, J, Leveque, S, Nedellec, J, Nizard, T, Quibel, D, Subtil, F, Vialard, and D, Lemery

Subjects
Abortion, Spontaneous, Pregnancy, Practice Guidelines as Topic, Humans, Female, Fetal Death
Published
2014

19. Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases

Author

N, Gruchy, F, Vialard, E, Blondeel, N, Le Meur, G, Joly-Hélas, P, Chambon, M, Till, M, Herbaut-Graux, A, Vigouroux-Castera, A, Coussement, J, Lespinasse, F, Amblard, M, Jimenez, L, Lebel Roy Camille, F, Carré-Pigeon, E, Flori, F, Mugneret, S, Jaillard, C, Yardin, R, Harbuz, M, Collonge Rame, P, Vago, M, Valduga, N, Leporrier, Laboratoire de cytogénétique prénatale [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Laboratoire de Cytogénétique, Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie, École des Hautes Études en Santé Publique [EHESP] (EHESP), Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Service de cytogénétique constitutionnelle, Hospices Civils de Lyon (HCL)-CHU de Lyon-Centre Neuroscience et Recherche, Université libre de Bruxelles (ULB), Département de Génétique Chromosomique, Bâtiment Hôtel Dieu - Centre Hospitalier de Chambéry, Service de cytogénétique, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Institut de Génétique et Développement de Rennes (IGDR), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Laboratoire de biochimie et génétique moléculaire, CHU Grenoble, AGeing and IMagery (AGIM), Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS), Génétique Médicale, CHU Clermont-Ferrand-CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand, Département Méthodes quantitatives en santé publique (METIS), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université de Rennes (UR)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], and Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-École Pratique des Hautes Études (EPHE)

Subjects
Adult, Pregnancy, Karyotyping, [SDV]Life Sciences [q-bio], Pregnancy Outcome, Humans, Turner Syndrome, Abortion, Induced, Female, Genetic Counseling, France, Nuchal Translucency Measurement, Retrospective Studies
Abstract

International audience; The objectives of this study were to report pregnancy outcomes after prenatal diagnosis of Turner syndrome (TS) and to compare and assess termination of pregnancy rates during two periods. The intervals selected were before and after 1997 when multidisciplinary centers for prenatal diagnosis (MCPDs) were established in France. A database of 975 cases of TS diagnosed between 1980 and 2012 was created from 21 French cytogenetics laboratories. For each case, the karyotype indication, maternal age, year of prenatal testing, sampling procedure, karyotype, associated ultrasound findings, and outcomes were recorded. Karyotypes were mainly performed because of abnormal sonographic findings (84%). Before 1997, there were no changes in the rate of termination (90%) of affected fetuses. After 1997, the rate fell to 80%. This decrease was mainly observed in cases of mosaicism, incidental diagnosis, and in later gestations. US abnormalities were more likely to be associated with a full 45,X karyotype. There was an evolution in the way genetic counseling was performed following prenatal diagnosis of Turner syndrome that coincided with the opening of MCPDs in France. This resulted in a decrease in the rate of termination of affected fetuses.

Published
2014
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20. Intégration du KryptorTM dans un laboratoire de centre de lutte contre le cancer. De la validation au bilan d'utilisation à un an

Author

F. Vialard, M Leroy, P. Brunelle, and J.P. Basuyau

Subjects
Physics, Gynecology, medicine.medical_specialty, Biochemistry (medical), Clinical Biochemistry, Ca 125 antigen, medicine
Abstract

Resume Souhaitant modifier l'organisation des analyses ≪ marqueurs tumoraux ≫, en particulier pour obtenir une reponse dans les 24 h, nous avons decide en 1998 d'abandonner les methodes immunoradiometriques (Irma) en usage dans notre laboratoire pour des techniques ≪ froides ≫ automatisees. Nous presentons ici les resultats d'une etude menee en janvier/fevrier 1998 et comparant, pour quatre marqueurs tumoraux (CA15.3, CA 19-9, CA125 et PSA total), les resultats obtenus sur AxSYM et Kryptor a ceux issus de techniques Irma. Nous avons etudie sommairement les qualites analytiques des trois systemes (reproductibilite, etude de dilution, recherche d'un effet crochet) et nous sommes surtout attaches a l'etude des correlations entre les differents resultats. Les dosages ont ete realises en simple sur serums congeles a −20 °C. Nous avons calcule les correlations entre les methodes a partir de 409 resultats. Elles sont globalement satisfaisantes pour l'ensemble des marqueurs, sans resultat aberrant. Le Kryptor ayant ete retenu, nous presentons ensuite le bilan de 12 mois d'utilisation de routine pour les principaux parametres sur lesquels nous travaillons: ACE, AFP, CA15.3, CA19-9, CA125, Cyfra et PSA total, sous forme d'une etude de la reproductibilite et de l'analyse des points forts et des points faibles du systeme.

Published
2000
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21. Génétique et infertilité masculine

Author

P. Clement, Marc Bailly, D. Molina Gomes, Martine Albert, Fatma Ferfouri, Jacqueline Selva, and F. Vialard

Abstract

L’infertilite peut etre consideree comme une maladie multifactorielle qui touche aujourd’hui plus de 15% des couples. Dans un tiers des cas, une cause purement feminine est retrouvee, dans 21% des cas une cause uniquement masculine, et une cause a la fois feminine et masculine est objectivee dans 39% des cas. Enfin, dans 7% des cas, aucune cause n’est trouvee (infertilite inexpliquee dite idiopathique) (1).

Published
2011
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22. Analyse du premier globule polaire et diagnostic préconceptionnel: états des lieux

Author

M. Bergere, D. Molina-Gomes, J. Selva, I. Hammoud, R. Wainer, and F. Vialard

Abstract

Le diagnostic preconceptionnel (DPC), decrit pour la premiere fois en 1990 (1), est considere, par beaucoup, comme une alternative au diagnostic preimplantatoire (DPI) et au screening preimplantatoire des aneuploidies (SPI) (2). Il s’agit non pas du diagnostic d’une anomalie embryonnaire, mais du diagnostic indirect, sur globule polaire (GP), de la constitution genetique de l’ovocyte. A l’oppose du DPI, fait sur blastomere (3), le diagnostic preconceptionnel s’eff ectue sur le premier GP avant la fecondation, voire sur les deux globules polaires apres la fecondation.

Published
2011
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23. Prenatal BACs-on-Beads™ : a new technology for rapid detection of aneuploidies and microdeletions in prenatal diagnosis

Author

F, Vialard, G, Simoni, A, Aboura, S, De Toffol, D, Molina Gomes, L, Marcato, S, Serero, P, Clement, P, Bouhanna, E, Rouleau, B, Grimi, J, Selva, E, Gaetani, F, Maggi, A, Joseph, B, Benzacken, and F R, Grati

Subjects
Adult, Male, Chromosomes, Artificial, Bacterial, Mosaicism, Genetic Diseases, Inborn, DNA, Aneuploidy, Fetal Blood, Chorionic Villi Sampling, Predictive Value of Tests, Prenatal Diagnosis, Humans, Female, Prospective Studies, Cordocentesis, Gene Deletion, In Situ Hybridization, Fluorescence, Retrospective Studies
Abstract

Molecular cytogenetic techniques on uncultured prenatal samples are the sole tests applied in some countries in cases with advanced maternal age (AMA) or increased risk after prenatal screening. Moreover, there is a trend to perform invasive prenatal diagnosis (PD) during the first trimester before ultrasound manifestations, so new rapid and reliable assays are necessary to investigate microdeletions not detectable with the conventional karyotype. We report the validation study of the prenatal bacterial artificial chromosomes-on-Beads™ (BoBs™ ; CE-IVD), a bead-based multiplex assay detecting chromosomes 13, 18, 21, X/Y aneuploidies and nine microdeletion regions having an overall detection rate of 1/1700.We retrospectively studied 408 selected samples and prospectively tested 212 consecutive samples ascertained for conventional karyotyping.We did not find false-positive results. Triploidies were not detected. Maternal cell contamination of male samples up to 90% was unmasked inspecting gonosome profiles. Mosaic conditions at 20 to 30% were revealed. Failures were due to low amount of DNA.Prenatal BoBs™ is a robust technology for the investigation of fetuses with normal karyotype with or without sonographic abnormalities. Running in parallel with the karyotype analysis, it can be proposed instead of rapid FISH or QF-PCR providing rapid results on common aneuploidies and additional information regarding the microdeletion syndromes.

Published
2010

24. [New technologies for genome analysis: Which use in prenatal diagnosis]

Author

F, Vialard and D, Molina Gomes

Subjects
Comparative Genomic Hybridization, Pregnancy, Prenatal Diagnosis, Humans, Female
Abstract

Array-CGH emergence allowed important diagnosis progress, and a better care of patients in postnatal. So, there is a great temptation to use it also in prenatal diagnosis. The point of view objective is to make a rapid overview of cytogenetic diagnosis evolution during the last 50 years, and to show all questions raised by the use of array-CGH, and problems that could arise in prenatal diagnosis. While array-CGH just comes in genetic laboratories, new diagnosis approaches emerged like whole genome sequencing or non-invasive prenatal diagnosis. The 2nd objective will be to review all these techniques for a probably close future.

Published
2010

25. Case report: Meiotic segregation in spermatozoa of a 46,X,t(Y;10)(q11.2;p15.2) fertile translocation carrier

Author

F, Vialard, D, Molina-Gomes, J, Roume, A, Podbiol, C, Hirel, M, Bailly, I, Hammoud, J M, Dupont, P, de Mazancourt, and J, Selva

Subjects
Male, Meiosis, Chromosomes, Human, Y, Chromosome Segregation, Inheritance Patterns, Humans, Risk Assessment, Spermatozoa, In Situ Hybridization, Fluorescence, Translocation, Genetic, Pedigree
Abstract

Translocations involving gonosomes are frequent in azoospermic patients and sometimes in oligozoospermic ones, conditions that lead to request for assisted reproduction treatment. This study reports an unexpectedly fertile 49-year-old man bearing a de-novo translocation 46,X,t(Y;10)(q11.2;q15.2) associated with a high chromosomal risk for offspring, and referred for familial investigations after the diagnosis of an unbalanced translocation 46,XX,der(10)t(Y;10)(q11.2;p15.2) in his naturally conceived and mentally retarded daughter. Chromosome molecular investigation confirmed Y long-arm inheritance in the daughter and absence of the Yq deletion in the father. Semen analysis showed a normal sperm count associated with moderate asthenospermia and severe teratospermia. A total of 984 spermatozoa were analysed using fluorescence in-situ hybridization (FISH). Alternate segregation pattern was found in 50.31% of the spermatozoa studied. The frequencies of adjacent I, adjacent II, 3:1 segregation, and diploidy (or 4:0 segregation) were respectively 39.62, 1.63, 7.83, and 0.61%. No interchromosomal effect was observed. This patient is the first fertile man in whom the meiotic segregation pattern of a Y-autosome translocation has been analysed. The imbalance risk was close to those observed for reciprocal translocations, and emphasizes the value of FISH studies in males with a chromosomal translocation in order to provide them a personalized risk evaluation.

Published
2009

26. [Benefit of human gamete cytogenetics: results and perspectives]

Author

F, Vialard and F, Pellestor

Subjects
Adult, Chromosome Aberrations, Male, Chromosome Disorders, Aneuploidy, Spermatozoa, Translocation, Genetic, Klinefelter Syndrome, Nondisjunction, Genetic, Pregnancy, Chromosome Inversion, Cytogenetic Analysis, Oocytes, Humans, Female, Infertility, Female, Infertility, Male, Maternal Age
Abstract

In man, the incidence of reproductive failures is high and chromosomal abnormalities remains the major cause of pregnancy wastage. The advent of molecular cytogenetic techniques and assisted reproduction technology have brought forth new approaches for the chromosomal analysis of human oocytes and spermatozoa. The oocyte analyses have evidenced the high rate of chromosomal abnormalities in women and identified premature separation of sister chromatid as a major mechanism in aneuploidy occurrence. High frequencies of aneuploidy have been found in various groups of women, such as patients over 35 or 38 years old, patients with recurrent implantation failures or recurrent miscarriages. The polar body analysis has confirmed the major contribution of premature separation of sister chromatids in aneuploidies and the effect of maternal ageing on its occurrence. In spermatozoa, the efficient adaptation of in situ chromosomal detection techniques has facilitated the segregation analysis of chromosomal abnormalities. Despite the consensus observed in sperm studies of robertsonnian translocations and inversions, new data are required for accurate estimates of imbalances in various types of structural rearrangements. For infertile patients with normal karyotypes, there is significant increase in aneuploidy frequencies, which can be extremely elevated in some groups of subjects, such as patients with large headed spermatozoa syndrome.

Published
2008

27. [Long-term effects of environmental endocrine disruptors on male fertility]

Author

C, Mauduit, A, Florin, S, Amara, A, Bozec, B, Siddeek, S, Cunha, L, Meunier, J, Selva, M, Albert, F, Vialard, M, Bailly, and M, Benahmed

Subjects
Male, Hypospadias, Testicular Neoplasms, Pregnancy, Cryptorchidism, Animals, Humans, Androgen Antagonists, Female, Environmental Exposure, Syndrome, Endocrine Disruptors, Spermatozoa
Abstract

Several epidemiologic studies have demonstrated during the last 50 years an increased incidence in testis cancer, male genital tract malformations (cryptorchidism and hypospadias) and a decrease in sperm quality in men. These three pathologies seem to be linked and to belong to the testicular dysgenesis syndrome (TDS). It was suggested that TDS is a consequence of intra-uterine exposure to environmental compounds that disrupt the metabolism of native hormones. Such substances are so called endocrine disruptors (EDs). EDs are present in our daily environment such as food and water (through the use of pesticides), cosmetics, house-care products etc. Experimental models have been carried out to (i) establish a link between EDs exposure and SDT and (ii) identify the mechanisms that are involved in. After a brief definition of EDs and having underlined the importance of the window of exposure to EDs, several mechanisms will be described such as (i) intergenerational transmission (epigenetic), (ii) programmed cell death of testicular cells, (iii) modification of the androgenic signal and (iv) role of the germ cells-nourishing cells. To conclude, we will try to propose some biomarkers that would be useful to identify the potential link between fetal exposure to anti-androgenic EDs and male testicular pathology.

Published
2006

28. [Late paternity: spermatogenetic aspects]

Author

M, Dakouane-Giudicelli, M, Bergère, M, Albert, V, Sérazin, C, Rouillac-Le Sciellour, F, Vialard, N, Lédée, O, Cussenot, Y, Giudicelli, and J, Selva

Subjects
Adult, Aged, 80 and over, Chromosome Aberrations, Male, Mutation, Humans, DNA, Middle Aged, Aneuploidy, Spermatogenesis, Spermatozoa, Paternal Age, Aged
Abstract

The effect of maternal age on the risk of meiotic abnormality is well documented. In contrast little is known about the effect of the paternal age. The question of the risk related to paternal age is raised because of the increased demand of Assisted Reproduction Techniques for older men. This review focuses on the alterations of male semen parameters, testis histology and genetic risks related to age. The motility, vitality and morphology of spermatozoa and semen volume are found decreasing with age. Histomorphometric studies reveal various alterations including a thickening of the basal membrane when spermatogenesis is arrested. The number of germinal and Sertoli cells decreases with increased age. Up to 95 years old, we could find subjects with complete spermatogenesis. Chromosomal analyses in different studies have provided controversial results. Our investigation on subjects aged from 29 to 102 showed that the rate of aneuploidy in the group of aged subjects with preserved spermatogenesis was not statistically different from the young control group. However the incidence of postmeiotic aneuploidy was increased when spermiogenesis had stopped. On the other hand from epidemiological studies, autosomal dominant diseases are known to be associated with paternal age. However, in the case of achondroplasia and Apert syndrome, direct DNA sperm analysis did not reveal significant increase in the mutation frequency with paternal age.

Published
2006

29. [Aging and spermatogenesis: an histologic, cytogenetic and apoptosis study]

Author

M, Dakouane, M, Albert, M, Bergère, C, Sabbagh, F, Brayotel, F, Vialard, R, Lombroso, L, Bicchieray, and J, Selva

Subjects
Adult, Chromosome Aberrations, Male, Aging, Apoptosis, Middle Aged, Aneuploidy, Risk Factors, Cytogenetic Analysis, Testis, In Situ Nick-End Labeling, Humans, Spermatogenesis, In Situ Hybridization, Fluorescence, Aged
Abstract

The increase of frequency of Assisted Reproductive Techniques (ART) for elder men raises the question of the genetic risk for the offspring. Our aim was to evaluate the influence of ageing on the testicular histology, the aneuploidy rate in testis postmeiotic cells and the DNA fragmentation in sperm.We performed a histomorphometric study of 36 men aged from 61 to 102 years and 10 young men from 29 to 40 years. The aneuploidy rate was evaluated by fluorescent in situ hybridation (FISH X, Y, 18) and DNA fragmentation in spermatozoa was evaluated by TUNEL.Histomorphometry showed various alterations of testicular histology with age including thickening of the basal membrane when spermatogenesis was arrested. The number of germinal cells and Sertoli cells decreased with age with important individual variations. Nevertheless spermatogenesis could be possible until 95 years. The rate of aneuploidy was not influenced by age when spermatogenesis was complete. However, we observed an increased aneuploidy rate in postmeiotic cells when spermiogenesis was arrested. On the other hand apoptosis was not increased with age.Our study confirms that spermatogenesis is possible until a very advanced age (95 years) without any specific chromosome risk. The question of mutagenesis remains to be solved.

Published
2005

30. [Genomic instability and male infertility]

Author

F, Vialard, M, Benahmed, R, Lombroso, and J, Selva

Subjects
Male, Chromosomes, Human, Y, Humans, Sperm Injections, Intracytoplasmic, Genomic Instability, Infertility, Male, Sex Chromosome Aberrations, Translocation, Genetic
Abstract

Knowledge of the human genome has opened the genomic era. The genome instability, its causes and the possible consequences especially about fertility start to be understood. This instability can be observed on chromosome structure but also on genes. Different chromosomes rearrangements involved in infertility including translocations and Y chromosome deletions are described. The Y chromosome is a model of instability, and this instability is the source of its evolution. All those rearrangements are the results of illegitimate recombinations between homologous sequences. On genes we find punctual and dynamic mutations, polymorphisms and epigenetic abnormalities. They all are the results of ADN replication mistakes not corrected by the cellular machine. This machinery is the guardian of the genome integrity and in case of abnormality the programmed cellular death is induced. The knowledge of all these instability mechanisms is essential to appreciate the risk for the offspring after intracytoplasmic sperm injection. Indeed we go round physiological barriers without a complete understanding of the mechanisms involved. Thus, this is an important challenge for research teams but also for all assisted reproduction centers, dealing with ART. Genome is unstable - the very basis of its evolution. But this is also the cause of mistakes with pathological consequences like infertility and mental retardation.

Published
2004

31. [Prenatal diagnosis of a probable human chimera after fertilization in vitro]

Author

B, Simon-Bouy, M, Plachot, A, Mokdad, C, Muti, A, Bazin, F, Vialard, and J, Belaisch-Allart

Subjects
Adult, Male, Fetal Growth Retardation, Chimera, Pregnancy, High-Risk, Fertilization in Vitro, Embryo Transfer, Ultrasonography, Prenatal, Pregnancy, Cytogenetic Analysis, Amniocentesis, Humans, Female, Maternal Age
Abstract

Chimerism is the coexistence of more than one cell line in an individual, due to the fusion of originally separate zygotes. It has been very rarely described in humans. A 36-year-old woman referred for in vitro fertilization (IVF) had three embryos transferred leading to a monofetal pregnancy. Ultrasound examination at 17 weeks showed severe intrauterine growth retardation. Amniocentesis revealed a mixture of 46,XY and 46,XX clones. Histopathologic examination showed a dysmorphic fetus with female phenotype and severe growth retardation. Fusion of two of the three embryos (one male and one female) seems to be the most probable mechanism that could explain both cytogenetic and histopathologic observations.

Published
2003

32. Fetal gender: antenatal discrepancy between phenotype and genotype

Author

F, Bretelle, L, Salomon, M-V, Senat, F, Vialard, M, Albert, J, Roume, and Y, Ville

Subjects
Adult, Male, Phenotype, Genotype, Pregnancy, Karyotyping, Infant, Newborn, Humans, Abnormalities, Multiple, Female, Sex Chromosome Aberrations
Abstract

Sexual discrepancy is reported in both 46,XY females and 46,XX males, and most diagnoses of sex reversal are made in the postpubertal period. We report three cases of sexual discrepancy, which were revealed by karyotyping following genetic amniocentesis, chorionic villus sampling and fetal blood sampling. The etiologies of 46,XX male, 45,X male and 46,XY female subjects are reviewed. When sexual discrepancy between fetal karyotype and ultrasonographic fetal phenotype is encountered, sample error and placental mosaicism should be excluded. A detailed fetal ultrasound examination should be performed to check for syndromic gender discrepancy. When repeat karyotyping is indicated, localization of the Sox related Y chromosome gene should be carried out.

Published
2002

33. Efficacité et tolérance du romiplostim (Nplate®) chez les patients atteints de purpura thrombopénique immunologique (PTI) : résultats d’une cohorte française de 72 patients traités dans le cadre de l’autorisation temporaire d’utilisation (ATU) nominative

Author

Olivier Lambotte, M. Alexis, P. Quittet, Medhi Khellaf, Jean-Marc Durand, B. Slama, S. Cheze, François Lefrère, X. Delbrel, J.-F. Vialard, Marc Michel, and Bertrand Godeau

Subjects
Gastroenterology, Internal Medicine
Published
2009
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35. Contents Vol. 99, 2002

Author

H. Suzuki, R. Kunita, J.-N. Volff, R. Willemsen, A. von der Wense, S.B.A. Fonteles, A. Wolf, K. Saso, K. Sekiya, S.M. Gartler, I. Miura, S. Christin-Maitre, M. Ito, T. Tada, J.T. Lee, C.B. Moysés, D.J. Penman, W. Feichtinger, J. Bernardino-Sgherri, K. Sasaki, Y. Matsuda, S. Jakubiczka, C. Steinlein, M. Matsumura, A. Gal, W. Werner, S. Yamaguchi, D.K. Griffin, Y. Hasegawa, A.I. Shevchenko, A. Fernández Badillo, C.J. Brown, M. Fellous, M. Kuro-o, K. Kutsche, Y. Sabbagh, S. Kirsch, C.E. Schwartz, N. Brockdorff, G.A. Rappold, M. Ogata, T.V. Karamysheva, D.J. Paull, S.-S. Tan, P.G. Johnston, L.V. Pereira, J. Manzanilla Pupo, J.-Y. Lee, T. Ogata, A. Kuroiwa, D. Flagiello, P. Meinecke, K.D. Tsuchiya, L.L. Hall, M.F.Z. Daniel-Silva, T. Namikawa, A.D. Riggs, J.S. Masabanda, R. Campos-Ramos, H. Hameister, Julie Cocquet, C.E. Lopes, K. Abe, P. Muschke, F. Vialard, O.V. Anopriyenko, N.A. Mazurok, M. Schmid, S. Shetty, S. Mizuno, M. Tsudzuki, I. Yoshida, R. Visbal García, T. Kida, H.S. Tenenhouse, T. Hori, J.M.A. Turner, O. Nakabayashi, T. Sado, M. Harata, M. Gomez, E. Heard, O. Bartsch, Y. Fujinuki, H. Kiyosawa, M. Yoshino, Z. Webster, D. Zarkower, P. Wieacker, M. Teranishi, M. Alexiou, G.N. Filippova, C. Ikebe, Paul S. Burgoyne, M. Yamazaki, N. Arai, M. Monk, K. Tanaka, N.B. Rubtsov, S. Kim, Y. Watanabe, C. Gauthier, Y. Itoh, T.B. Nesterova, Y. Fukushima, L.F. de Almeida-Toledo, T. Nakamura, T. Yokomine, M. Adams, T. Kubota, P.J. Kirby, M. Schartl, H. Kimura, B.A. Oostra, I. Nanda, R. Wimmer, N. Okamoto, Y. Arakawa, N. Nakatsuji, E. Li, G.E. Herman, S. Sutou, Y. Goto, W. Schempp, S.C. Harvey, C. Nishida-Umehara, I.B. Van den Veyver, A. Akama, M.-L. Caparros, M. Krawczak, D.W. Burt, N. Takagi, H. Ohashi, Daniel Vaiman, R. Feil, I. Wieland, H.M. El-Hodiri, Y. Kuroda, H. Sasaki, S.M. Zakian, M. Tada, K. Akaba, M. Guggiari, L. Gerlach, L.-J. Ayling, M.N. Klöckner, F. Foresti, L.R. Vasques, B. Dutrillaux, T. Haaf, M. Okabe, R.E. Stevenson, J. Gécz, R.S. Hansen, S. Kohno, O.A. Ojarikre, T. Igarashi, N.V. Rubtsova, M. Sugimoto, M. Hemberger, S. Hatano, Y. Izumisawa, J.C. Chow, J.A.M. Graves, Reiner A. Veitia, J.B. Lawrence, Y. Ogawa, C.M. Watson, C.M. Disteche, A. Weber, K. Muroya, A. Ogawa, N.R. Bromage, B.R. Migeon, H. Ohtani, K. Wakui, Y. Ichikawa, J. Chaumeil, and I. Okamoto

Subjects
Botany, Genetics, Zoology, Biology, Molecular Biology, Genetics (clinical)
Published
2002
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36. Subject Index Vol. 99, 2002

Author

K. Abe, S. Yamaguchi, H. Ohashi, J.M.A. Turner, M. Tsudzuki, D.K. Griffin, M. Tada, K. Tanaka, M. Hemberger, Y. Fujinuki, C.J. Brown, Y. Watanabe, A. Weber, M. Fellous, S. Hatano, Y. Izumisawa, A. Gal, R. Wimmer, J.C. Chow, K. Muroya, J.A.M. Graves, Reiner A. Veitia, R.E. Stevenson, A.D. Riggs, J. Gécz, R.S. Hansen, Y. Arakawa, N. Arai, T. Sado, Y. Hasegawa, L.-J. Ayling, Y. Itoh, M. Adams, T. Kubota, C.M. Disteche, L.V. Pereira, N. Okamoto, M. Yoshino, I. Nanda, L.F. de Almeida-Toledo, K. Saso, T. Yokomine, J.-N. Volff, F. Foresti, M. Schartl, K. Akaba, M. Ogata, D.J. Paull, S.-S. Tan, J. Manzanilla Pupo, Y. Fukushima, D. Zarkower, M.N. Klöckner, C.E. Schwartz, N. Brockdorff, O.A. Ojarikre, N. Nakatsuji, S. Sutou, G.N. Filippova, N.B. Rubtsov, J.B. Lawrence, Y. Sabbagh, S. Kim, C. Gauthier, J.T. Lee, H. Sasaki, N.R. Bromage, S. Kirsch, C.B. Moysés, M. Ito, L.L. Hall, P.J. Kirby, Y. Goto, C. Nishida-Umehara, T. Tada, D.J. Penman, Y. Ogawa, J.S. Masabanda, I. Wieland, B.A. Oostra, S.M. Gartler, M.F.Z. Daniel-Silva, T. Namikawa, Julie Cocquet, M. Guggiari, L. Gerlach, F. Vialard, C. Ikebe, Z. Webster, S.C. Harvey, A. Fernández Badillo, H.M. El-Hodiri, H. Hameister, P. Wieacker, G.E. Herman, T. Ogata, O.V. Anopriyenko, M. Monk, T. Igarashi, N.V. Rubtsova, M. Sugimoto, W. Feichtinger, J. Bernardino-Sgherri, M. Matsumura, R. Willemsen, S. Mizuno, D. Flagiello, Y. Kuroda, J.-Y. Lee, R. Visbal García, R. Feil, S. Jakubiczka, S.M. Zakian, N.A. Mazurok, S. Shetty, R. Kunita, N. Takagi, Daniel Vaiman, A. von der Wense, A. Akama, H.S. Tenenhouse, M. Alexiou, H. Suzuki, T. Hori, T. Kida, G.A. Rappold, B. Dutrillaux, L.R. Vasques, W. Werner, T.B. Nesterova, A.I. Shevchenko, E. Li, W. Schempp, T. Haaf, M. Okabe, M. Kuro-o, S. Kohno, S.B.A. Fonteles, A. Wolf, I. Miura, I.B. Van den Veyver, M. Krawczak, M. Harata, K. Sekiya, M. Gomez, E. Heard, T.V. Karamysheva, S. Christin-Maitre, A. Kuroiwa, C.E. Lopes, K. Kutsche, P. Muschke, M. Schmid, I. Yoshida, O. Nakabayashi, O. Bartsch, K. Sasaki, Y. Matsuda, P.G. Johnston, C. Steinlein, Y. Ichikawa, J. Chaumeil, I. Okamoto, B.R. Migeon, H. Ohtani, K. Wakui, C.M. Watson, A. Ogawa, H. Kiyosawa, M. Teranishi, Paul S. Burgoyne, M. Yamazaki, P. Meinecke, K.D. Tsuchiya, R. Campos-Ramos, T. Nakamura, H. Kimura, M.-L. Caparros, and D.W. Burt

Subjects
Index (economics), Statistics, Genetics, Subject (documents), Biology, Molecular Biology, Genetics (clinical)
Published
2002
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37. OC28.02: BACs on beads: a clue to ultrasound findings

Author

J. Roume, L. Loeuillet, Thomas Popowski, F. Vialard, D. Molina-Gomes, B. Leroy, L. Sonnier, P. Bouhanna, and J. Bault

Subjects
medicine.medical_specialty, Reproductive Medicine, Radiological and Ultrasound Technology, business.industry, Ultrasound, Obstetrics and Gynecology, Medicine, Radiology, Nuclear Medicine and imaging, General Medicine, Radiology, business
Published
2011
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40. P02.05: Aneuploidy recurrence: new data

Author

Jacqueline Selva, F. Jacquemard, D. Molina Gomes, C. Lacam, F. Vialard, T. Quebel, Patrick Rozenberg, P. Bouhanna, and J.-P. Bault

Subjects
Oncology, medicine.medical_specialty, Reproductive Medicine, Radiological and Ultrasound Technology, business.industry, Internal medicine, medicine, Obstetrics and Gynecology, Aneuploidy, Radiology, Nuclear Medicine and imaging, General Medicine, medicine.disease, business
Published
2009
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41. CA-15.3: Prognostic factor in breast cancer

Author

J. Gligorov, C. Boccara, J. P. Julien, Graic Y, Corinne Veyret, J.P. Basuyau, and F. Vialard

Subjects
CA15-3, Oncology, Cancer Research, medicine.medical_specialty, Prognostic factor, Breast cancer, business.industry, Internal medicine, Medicine, CA 15-3, business, medicine.disease
Published
1998
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42. Evidence of a high proportion of premature unbalanced separation of sister chromatids in the first polar bodies of women of advanced age.

Author

F. Vialard, C. Petit, M. Bergere, D. Molina Gomes, V. Martel-Petit, R. Lombroso, Y. Ville, H. Gerard, and J. Selva

Subjects
*MATERNAL age, *ANEUPLOIDY, *OVUM, *REPRODUCTIVE technology
Abstract

BACKGROUND: Maternal ageing is the only aetiological factor unequivocally linked to aneuploidy. Two mechanisms seem to explain these abnormalities in oocytes: non-disjunction and premature unbalanced separation of sister chromatids (PSSC). Previous studies of unfertilized oocytes argue for a major role of PSSC in the aetiology of aneuploidy for women of advanced age, but in vitro ageing of the oocytes could influence the results. METHODS: Owing to the high prevalence of aneuploidy in women of advanced age, chromosomal screening of the first polar body just before ICSI was offered to women (from 38 years of age) included in an assisted reproduction programme. RESULTS: Among 141 oocytes from 29 women (mean age 40 years and 2 months), 43 (30.5%) were abnormal. Sixty-five abnormalities were found and PSSC was involved in 80% of cases. CONCLUSION: These results are in accordance with previous studies and confirm, in ‘fresh’ oocytes, the major role of PSSC in the aetiology of aneuploidy in women of advanced age. [ABSTRACT FROM AUTHOR]

Published
2006
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44. Tumor necrosis factor-alpha -308 polymorphism in infertile men with altered sperm production or motility.

Author

V. Tronchon, F. Vialard, M. El Sirkasi, H. Dechaud, J. Rollet, M. Albert, M. Bailly, P. Roy, C. Mauduit, P. Fenichel, J. Selva, and M. Benahmed

Subjects
*TUMOR necrosis factors, *GENETIC polymorphisms, *MALE infertility, *SPERM motility, *IMMUNOREGULATION, *POLYMERASE chain reaction
Abstract

: BACKGROUND One of the most well-documented cytokines suspected as a hazard to male fertility is tumor necrosis factor-α (TNFα). Genetic factors such as single-nucleotide polymorphisms (SNPs) in the TNF gene cluster impact TNFα levels. Our objective was to establish the potential involvement of −308 TNF SNP in male infertility risk. : METHODS In 684 infertile male patients undergoing an intracytoplasmic sperm injection procedure, we used allele-specific polymerase chain reaction (PCR) and PCR-RFLP to investigate the distribution of the guanine (G)-to-adenosine (A) substitution at position −308 in the promoter region of the TNFα gene. : RESULTS An increased frequency of the −308 TNFα A allele was found in patients with low sperm count of testicular origin [P = 0.002; odds ratio (OR) = 2.93] or with normal production count but altered sperm motility (P = 0.003; OR = 2.32), compared with a patient group with normal sperm count and quality (morphology and motility). In patients with low sperm count exhibiting TNFα A allele, compared with those with G allele, an alteration in hormonal balance was observed with increased inhibin B levels and subsequent reduced FSH plasma levels, leading to an FSH/inhibin B ratio roughly half as high (from 0.07 ± 0.01 in TNFA versus 0.13 ± 0.02 in TNFG allele groups, P < 0.0001). : CONCLUSION As the −308 TNFα A allele has been associated with an increased expression/production of TNFα, the potential use of therapies based on inhibition of TNFα activities could represent possible therapeutic opportunities for patients with low sperm count (i.e. primary testicular dysfunction) or with altered sperm motility. [ABSTRACT FROM AUTHOR]

Published
2008
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45. Can high magnification morphological selection of spermatozoa be effective reducing chromosomal risk for patients carrying translocations?

Author

F., Vialard, M. H., Chelli, M., Albert, L., Hammoud, M. I., Bailly, M., Bergere, Gomes D., Molina, and J., Selva

Subjects
*SPERMATOZOA, *CHROMOSOMAL translocation, *HUMAN chromosome abnormalities, *ANEUPLOIDY, *APOPTOSIS
Abstract

Introduction: Around 2% of oligospermic patients requiring intracytoplasmic injection (ICSI) carry a karyotype abnormality associated to an increased aneuploidy risk. IMSI (intracytoplasmic morphologically selected sperm injection) is an efficient technique for patients with ICSI failure. The observed benefit could be linked to euploid spermatozoa selection. The aim of the study was to compare the incidence of the different segregation products of translocations in spermatozoa selected as for conventional ICSI (x400) or IMSI with a high magnification (x6000). Materials/Methods: Six patients with reciprocal translocation: 46,XY,t(10;13)(q11;q34); 46,XY,t(5;8) (p15.1;q22.1); 46,XY,t(4;11)(p15.2;q21); 46,XY,t(5;21) (q15;q22.2); 46,XY,t(8;9)(q21.1 ;q22.2); 46,XY,t(6;10)(p23. q11.2), and five patients with Robertsonian translocation: 3 45,XY, rob(13;14), 45,XY, rob(15;21); 45,XY, rob(13;15) were included. Two selections of spermatozoa were tested, first x400 as for ICSI, secondly x6000 as for IMSI. ICSI-selected and IMSI-top spermatozoa, according to Bartoov's classification, were individually aspirated in an ICSI pipette and grouped for fluorescence in-situ hybridization (FISH) performed with translocation-specific probes (Abbott) and with X,Y,18 centromeric probes. Results: In ejaculated sperm of reciprocal translocation carriers, the incidence of abnormal segregation varied from 32.6% to 53.6%, mean 43.61%. The frequency of X,Y,18 aneuploidies was 1.90%. Sperm selection did not influence the global rate of abnormalities (43.61%, 43.24%, 44.21% respectively, before selection after x400 or x6000 selection). Otherwise the repartition of the segregations was modified. Adjacent 1 segregation was less frequent after x400 selection (n = 574, P = 0.031) or x6000 selection (n = 492, P = 0.014) than in the whole sperm (n = 6042). IMSI selection also decreased adjacent 2 segregation frequency (P = 0.0001) but increased 3:1 segregation frequency (P = 0.0001). For Robertsonian translocation carriers, the aneuploidy rate seemed slightly increased by selection for IMSI (P = 0.02) (22.64%, n = 4778; 29.85%, n = 414; 37.38%, n = 323, respectively for whole sperm, x 400 and x 6000 selection). X,Y,18 aneuploidies remained stable. Conclusion: Morphological selection of the spermatozoa did not modify the global incidence of aneuploid spermatozoa in patients with balanced reciprocal translocations. Only the situation where the malsegregation induces a modification of the structure with reconstructed 'aberrant' chromosomes but not of the number of chromosomes (Adjacent 1, Adjacent 2) might be eliminated by the high-magnification morphological selection probably via a modification of the chromatin structure and/or apoptosis signs. 'Simple' aneuploidies with a structurally normal chromosome or fused full chromosomes such as Robertsonian translocations derivates were not selected at all. Finally, testicular apoptosis of germinal cells is probably an important selection factor interacting with morphology and explaining some paradoxical results of our work. [ABSTRACT FROM AUTHOR]

Published
2008
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46. Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome

Author

Severine Bacrot, Eva Pompilii, Sabrina Rossi, Nathalie Leporrier, Livia Marcato, Arnaud Molin, Giuseppe Simoni, Enzo Troilo, François Vialard, Gabriella Bracalente, Demetrio Baldo, Anne Lise Delezoide, Licia Turolla, Simona De Toffol, Francesca Romana Grati, Céline Dupont, Gianluigi Pilu, Federico Maggi, Anne Claude Tabet, Nicolas Gruchy, L. Marcato, L. Turolla, E. Pompilii, C. Dupont, N. Gruchy, S. D. Toffol, G. Bracalente, S. Bacrot, E. Troilo, A. C. Tabet, S. Rossi, A. L. Delezoïde, D. Baldo, N. Leporrier, F. Maggi, A. Molin, G. Pilu, G. Simoni, F. Vialard, and F. R. Grati

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Williams-beuren syndrome, prenatal, phenotype, business.industry, SINDROME DI WILLIAMS, Williams–Beuren critical region, Prenatal diagnosis, Case Reports, Array CGH, General Medicine, Bioinformatics, Phenotype, PRENATAL DIAGNOSIS, prenatal BACs on beads, Gene duplication, medicine, AMNIOCENTESIS, cardiovascular diseases, CONGENITAL ANOMALIES, business, ULTRASOUND, Reciprocal
Abstract

Key Clinical Message Copy losses/gains of the Williams–Beuren syndrome (WBS) region cause neurodevelopmental disorders with variable expressivity. The WBS prenatal diagnosis cannot be easily performed by ultrasound because only few phenotypic features can be assessed. Three WBS and the first reciprocal duplication prenatal cases are described with a review of the literature.

Published
2014
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47. Fetal death: Expert consensus of the French College of Obstetricians and Gynecologists.

Author

Garabedian C, Sibiude J, Anselem O, Attie-Bittach T, Bertholdt C, Blanc J, Dap M, de Mézerac I, Fischer C, Girault A, Guerby P, Le Gouez A, Madar H, Quibel T, Tardy V, Stirnemann J, Vialard F, Vivanti A, Sananès N, and Verspyck E

Abstract

Fetal death is defined as the spontaneous cessation of cardiac activity after 14 weeks gestational age (GA). Regarding prevention of fetal death in the general population, it is not recommended to counsel or prescribe rest, aspirin, vitamin A, vitamin D, or micronutrient supplementation; systematically look for nuchal cord during prenatal screening ultrasound; or perform systematic antepartum monitoring by cardiotocography for the sole purpose of reducing the risk of fetal death. It is recommended to offer vaccination against influenza in epidemic periods and against SARS-CoV-2. Regarding evaluation in the event of fetal death, it is recommended that a fetal autopsy and anatomopathologic examination of the placenta be performed; chromosomal analysis be performed by microarray testing, rather than by conventional karyotype (with postnatal sampling of the fetal placental surface preferred for genetic purposes); testing for antiphospholipid antibodies be performed, with systematic Kleihauer-Betke testing and for irregular agglutinins; and summary consultation to discuss these examination results be offered. Regarding announcement and support, it is recommended that fetal death be announced without ambiguity, using simple words adapted to each situation, after which the couple should be supported with empathy across the different stages of their care. Regarding patient management in cases of fetal death, it is recommended that: in the absence of risks for disseminated intravascular coagulation or maternal demise, the patient's wishes regarding the timing between the fetal death diagnosis and labor induction should be considered; return home is possible, according to the patient's wishes; in all situations except maternal life-threatening emergencies, the preferred mode of delivery is vaginal, regardless of previous cesarean section(s); mifepristone 200 mg be prescribed at least 24 h before induction; and perimedullary analgesia be initiated at the start of induction if requested by the patient, regardless of GA. Of note, there is insufficient evidence to recommend either the administration route (i.e., vaginal or oral) of misoprostol or prostaglandin type. Regarding the risk of recurrence after unexplained fetal death: the incidence does not appear to be increased in subsequent pregnancies; in cases with a history of fetal death due to vascular problems, low-dose aspirin is recommended to reduce perinatal morbidity (otherwise, evidence is insufficient to recommend the prescription of aspirin); no optimal delay in initiating another pregnancy should be recommended based solely on a history of fetal death; fetal heart rate monitoring is not indicated based solely on a history of fetal death; although systematic labor induction is not recommended, induction may be considered depending on the context and parental request, and considering fetal age, benefits, and risks, especially before 39 weeks GA. Note that if the cause of fetal death is identified, management should be adjusted on a case-by-case basis. Regarding fetal death in a twin pregnancy, it is recommended that the surviving twin be examined immediately upon fetal death diagnosis; in a dichorionic twin pregnancy, preterm delivery induction is not recommended; in a monochorionic twin pregnancy, the surviving twin should be immediately evaluated for signs of acute fetal anemia, with weekly ultrasound monitoring for the first month, though immediate labor induction is not recommended., (© 2024 The Author(s). International Journal of Gynecology & Obstetrics published by John Wiley & Sons Ltd on behalf of International Federation of Gynecology and Obstetrics.)

Published
2024
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48. Use of Prenatal Exome Sequencing: Opinion Statement of the French Federation of Human Genetics Working Group.

Author

Cogan G, Troadec MB, Devillard F, Saint-Frison MH, Geneviève D, Vialard F, Rial-Sebbag E, Héron D, Attie-Bitach T, Benachi A, and Saugier-Veber P

Abstract

Objective: Prenatal whole exome sequencing (pES) is increasingly prescribed for fetuses with ultrasound anomalies. Starting from the local French prenatal medicine practice, healthcare system and legal landscape, we aimed to address the broad medical and ethical issues raised by the use of pES for women and couples as well as for prenatal care providers., Method: The French Federation of Human Genetics established a working group composed of clinicians and biologists from all over France to discuss pES challenges. A literature review was also performed., Results: We emphasize the importance of non-directive information that helps couples make a decision that is consistent with their personal values and ideas. We address the difficulty of obtaining informed consent that respects the couple's autonomy, despite the complexity of the information and regardless of their level of education and cultural background. We address whether variants of uncertain significance and unsolicited results should be reported. We emphasize the need for national harmonization of access to pES and the need for multidisciplinary meetings in complex situations. We point out that the specific French context of healthcare financing and the French law have a major influence on medical care organization and support for couples. The outcome of the working group is the development of 12 proposals., Conclusion: This opinion statement, dedicated to prenatal care providers worldwide although linked to the French context, will provide food for thought and assist them in understanding the complexity and implications of pES., (© 2024 The Author(s). Prenatal Diagnosis published by John Wiley & Sons Ltd.)

Published
2024
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49. [Fetal death: Expert consensus from the College of French Gynecologists and Obstetricians].

Author

Garabedian C, Sibiude J, Anselem O, Attie-Bittach T, Bertholdt C, Blanc J, Dap M, de Mézerac I, Fischer C, Girault A, Guerby P, Le Gouez A, Madar H, Quibel T, Tardy V, Stirnemann J, Vialard F, Vivanti A, Sananès N, and Verspyck E

Subjects
Humans, Pregnancy, Female, France, Gynecology, Consensus, SARS-CoV-2, Societies, Medical, Prenatal Diagnosis methods, Gynecologists, Obstetricians, Fetal Death prevention & control, Obstetrics methods, COVID-19 prevention & control
Abstract

Fetal death is defined as the spontaneous cessation of cardiac activity after fourteen weeks of amenorrhea. In France, the prevalence of fetal death after 22 weeks is between 3.2 and 4.4/1000 births. Regarding the prevention of fetal death in the general population, it is not recommended to counsel for rest and not to prescribe vitamin A, vitamin D nor micronutrient supplementation for the sole purpose of reducing the risk of fetal death (Weak recommendations; Low quality of evidence). It is not recommended to prescribe aspirin (Weak recommendation; Very low quality of evidence). It is recommended to offer vaccination against influenza in epidemic periods and against SARS-CoV-2 (Strong recommendations; Low quality of evidence). It is not recommended to systematically look for nuchal cord encirclements during prenatal screening ultrasounds (Strong Recommendation; Low Quality of Evidence) and not to perform systematic antepartum monitoring by cardiotocography (Weak Recommendation; Very Low Quality of Evidence). It is not recommended to ask women to perform an active fetal movement count to reduce the risk of fetal death (Strong Recommendation; High Quality of Evidence). Regarding evaluation in the event of fetal death, it is suggested that an external fetal examination be systematically offered (Expert opinion). It is recommended that a fetopathological and anatomopathological examination of the placenta be carried out to participate in cause identification (Strong Recommendation. Moderate quality of evidence). It is recommended that chromosomal analysis by microarray testing be performed rather than conventional karyotype, in order to be able to identify a potentially causal anomaly more frequently (Strong Recommendation, moderate quality of evidence); to this end, it is suggested that postnatal sampling of the placental fetal surface for genetic purposes be preferred (Expert Opinion). It is suggested to test for antiphospholipid antibodies and systematically perform a Kleihauer test and a test for irregular agglutinins (Expert opinion). It is suggested to offer a summary consultation, with the aim of assessing the physical and psychological status of the parents, reporting the results, discussing the cause and providing information on monitoring for a subsequent pregnancy (Expert opinion). Regarding announcement and support, it is suggested to announce fetal death without ambiguity, using simple words and adapting to each situation, and then to support couples with empathy in the various stages of their care (Expert opinion). Regarding management, it is suggested that, in the absence of a situation at risk of disseminated intravascular coagulation or maternal vitality, the patient's wishes should be taken into account when determining the time between the diagnosis of fetal death and induction of birth. Returning home is possible if it's the patient wish (Expert opinion). In all situations excluding maternal life-threatening emergencies, the preferred mode of delivery is vaginal delivery, regardless the history of cesarean section(s) history (Expert opinion). In the event of fetal death, it is recommended that mifepristone 200mg be prescribed at least 24hours before induction, to reduce the delay between induction and delivery (Low recommendation. Low quality of evidence). There are insufficient data in the literature to make a recommendation regarding the route of administration (vaginal or oral) of misoprostol, neither the type of prostaglandin to reduce induction-delivery time or maternal morbidity. It is suggested that perimedullary analgesia be introduced at the start of induction if the patient asks, regardless of gestational age. It is suggested to prescribe cabergoline immediately in the postpartum period in order to avoid lactation, whatever the gestational age, after discussing the side effects of the treatment with the patient (Expert opinion). The risk of recurrence of fetal death after unexplained fetal death does not appear to be increased in subsequent pregnancies, and data from the literature are insufficient to make a recommendation on the prescription of aspirin. In the event of a history of fetal death due to vascular issues, low-dose aspirin is recommended to reduce perinatal morbidity, and should not be combined with heparin therapy (Low recommendation, very low quality of evidence). It is suggested not to recommend an optimal delay before initiating another pregnancy just because of the history of fetal death. It is suggested that the woman and co-parent be informed of the possibility of psychological support. Fetal heart rate monitoring is not indicated solely because of a history of fetal death. It is suggested that delivery not be systematically induced. However, induction can be considered depending on the context and parental request. The gestational age will be discussed, taking into account the benefits and risks, especially before 39 weeks. If a cause of fetal death is identified, management will be adapted on a case-by-case basis (expert opinion). In the event of fetal death occurring in a twin pregnancy, it is suggested that the surviving twin be evaluated as soon as the diagnosis of fetal death is made. In the case of dichorionic pregnancy, it is suggested to offer ultrasound monitoring on a monthly basis. It is suggested not to deliver prematurely following fetal death of a twin. If fetal death occurs in a monochorionic twin pregnancy, it is suggested to contact the referral competence center, in order to urgently look for signs of acute fetal anemia on ultrasound in the surviving twin, and to carry out weekly ultrasound monitoring for the first month. It is suggested not to induce birth immediately., (Copyright © 2024 The Authors. Published by Elsevier Masson SAS.. All rights reserved.)

Published
2024
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50. A partial deletion within the meiosis-specific sporulation domain SPO22 of Tex11 is not associated with infertility in mice.

Author

Ghieh F, Passet B, Poumerol E, Castille J, Calvel P, Vilotte JL, Sellem E, Jouneau L, Mambu-Mambueni H, Garchon HJ, Pailhoux E, Vialard F, and Mandon-Pépin B

Subjects
Animals, Humans, Male, Mice, CRISPR-Cas Systems, Infertility, Male genetics, Sequence Deletion, Testis metabolism, Testis pathology, Cell Cycle Proteins genetics, Cell Cycle Proteins metabolism, Azoospermia genetics, Azoospermia pathology, Meiosis genetics, Spermatogenesis genetics
Abstract

Azoospermia (the complete absence of spermatozoa in the semen) is a common cause of male infertility. The etiology of azoospermia is poorly understood. Whole-genome analysis of azoospermic men has identified a number of candidate genes, such as the X-linked testis-expressed 11 (TEX11) gene. Using a comparative genomic hybridization array, an exonic deletion (exons 10-12) of TEX11 had previously been identified in two non-apparent azoospermic patients. However, the putative impact of this genetic alteration on spermatogenesis and the azoospermia phenotype had not been validated functionally. We therefore used a CRISPR/Cas9 system to generate a mouse model (Tex11Ex9-11del/Y) with a partial TEX11 deletion that mimicked the human mutation. Surprisingly, the mutant male Tex11Ex9-11del/Y mice were fertile. The sperm concentration, motility, and morphology were normal. Similarly, the mutant mouse line's testis transcriptome was normal, and the expression of spermatogenesis genes was not altered. These results suggest that the mouse equivalent of the partial deletion observed in two infertile male with azoospermia has no impact on spermatogenesis or fertility in mice, at least of a FVB/N genetic background and until 10 months of age. Mimicking a human mutation does not necessarily lead to the same human phenotype in mice, highlighting significant differences species., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2024 Ghieh et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Published
2024
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