Center Hospitalier Poissy Saint Germain

Saint-Germain-de-Prinçay, France

Center Hospitalier Poissy Saint Germain

Saint-Germain-de-Prinçay, France

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Coutton C.,French National Center for Scientific Research | Coutton C.,Joseph Fourier University | Coutton C.,Grenoble University Hospital Center | Zouari R.,Clinique de la Reproduction les Jasmins | And 32 more authors.
Human Reproduction | Year: 2012

summary answer: Two DPY19L2 heterozygous deletions and three point mutations were identified, thus further confirming that genetic alterations of the DPY19L2 gene are the main cause of globozoospermia and indicating that DPY19L2 molecular diagnostics should not be stopped in the absence of a homozygous gene deletion. what is known already: Globozoospermia is a rare phenotype of primary male infertility characterized by the production of a majority of round-headed spermatozoa without acrosome.We demonstrated previously that most cases in man were caused by a recurrent homozygous deletion of the totality of the DPY19L2 gene, preventing sperm head elongation and acrosome formation. In mammals, DPY19L2 has three paralogs of yet unknown function and one highly homologous pseudogene showing .95% sequence identity with DPY19L2. Specific amplification and sequencing of DPY19L2 have so far been hampered by the presence of this pseudogene which has greatly complicated specific amplification and sequencing. study design, size, duration: In this cohort study, 34 patients presenting with globozoospermia were recruited during routine infertility treatment in infertility centers in France and Tunisia between January 2008 and December 2011. The molecular variants identified in patients were screened in 200 individuals from the general population to exclude frequent non-pathological polymorphisms. participants/materials, setting, methods: We developed a Multiplex Ligation-dependent Probe Amplification test to detect the presence of heterozygous deletions and identified the conditions to specifically amplify and sequence the 22 exons and intronic boundaries of the DPY19L2 gene. The pathogenicity of the identified mutations and their action on the protein were evaluated in silico. main results and the role of chance: There were 23 patients who were homozygous for the DPY19L2 deletion (67.6%). Only eight of the eleven non-homozygously deleted patients could be sequenced due to poor DNA quality of three patients. Two patients were compound heterozygous carrying one DPY19L2 deleted allele associated respectively with a nonsense (p.Q342) and a missense mutation (p.R290H). One patient was homozygous for p.M358K, another missense mutation affecting a highly conserved amino acid. Due to & The Author 2012. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com Human Reproduction, Vol.27, No.8 pp. 2549-2558, 2012 Advanced Access publication on May 24, 2012 doi:10.1093/humrep/des160 Downloaded from http://humrep.oxfordjournals.org/ at SCOPUS EFLOWI on November 23, 2012 the localization of this mutation and the physicochemical properties of the substituted amino acids, we believe that this variant is likely to disrupt one of the protein transmembrane domains and destabilize the protein. Overall, 84% of the fully analysed patients (n = 31) had a molecular alteration of DPY19L2. There was no clear phenotypic difference between the homozygous deleted individual, patients carrying a point mutation and undiagnosed patients. limitations, reasons for caution: Globally poor fertilization rates are observed after intracytoplasmic sperm injection of round spermatozoa. Further work is needed to assess whether DPY19L2 mutated patients present a better or worse prognostic than the non-diagnosed patients. Evaluation of the potential benefit of treatment with a calcium ionophore, described to improve fertilization, should be evaluated in these two groups. wider implications of the findings: In previous work, deletions of DPY19L2 had only been identified in North African patients. Here we have identified DPY19L2 deletions and point mutations in European patients, indicating that globozoospemia caused by a molecular defect of DPY19L2 can be expected in individuals from any ethnic background. study funding/competing interest(s): None of the authors have any competing interest. This work is part of the project 'Identification and Characterization of Genes Involved in Infertility (ICG2I)' funded by the program GENOPAT 2009 from the French Research Agency (ANR). © The Author 2012.


Harbuz R.,Joseph Fourier University | Harbuz R.,French National Center for Scientific Research | Harbuz R.,Grenoble University Hospital Center | Zouari R.,Clinique de la Reproduction Les Jasmins | And 41 more authors.
American Journal of Human Genetics | Year: 2011

An increasing number of couples require medical assistance to achieve a pregnancy, and more than 2% of the births in Western countries now result from assisted reproductive technologies. To identify genetic variants responsible for male infertility, we performed a whole-genome SNP scan on patients presenting with total globozoospermia, a primary infertility phenotype characterized by the presence of 100% round acrosomeless spermatozoa in the ejaculate. This strategy allowed us to identify in most patients (15/20) a 200 kb homozygous deletion encompassing only DPY19L2, which is highly expressed in the testis. Although there was no known function for DPY19L2 in humans, previous work indicated that its ortholog in C. elegans is involved in cell polarity. In man, the DPY19L2 region has been described as a copy-number variant (CNV) found to be duplicated and heterozygously deleted in healthy individuals. We show here that the breakpoints of the deletions are located on a highly homologous 28 kb low copy repeat (LCR) sequence present on each side of DPY19L2, indicating that the identified deletions were probably produced by nonallelic homologous recombination (NAHR) between these two regions. We demonstrate that patients with globozoospermia have a homozygous deletion of DPY19L2, thus indicating that DPY19L2 is necessary in men for sperm head elongation and acrosome formation. A molecular diagnosis can now be proposed to affected men; the presence of the deletion confirms the diagnosis of globozoospermia and assigns a poor prognosis for the success of in vitro fertilization. © 2011 The American Society of Human Genetics.


PubMed | Center hospitalier Poissy Saint Germain, University of Versailles, Caen University Hospital Center, Jean Moulin University Lyon 3 and 3 more.
Type: Journal Article | Journal: Journal de gynecologie, obstetrique et biologie de la reproduction | Year: 2016

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.


Lebreton E.,CEA DAM Ile-de-France | Rozenberg P.,Center Hospitalier Poissy Saint Germain | Rozenberg P.,University of Versailles | Chalavoux K.,Center Hospitalier Poissy Saint Germain | And 6 more authors.
Journal de Gynecologie Obstetrique et Biologie de la Reproduction | Year: 2014

Objective To describe the methodology for continuous reporting of perinatal indicators in Maternité en Yvelines et Pays Associés (MYPA) network, and the main results for its evaluation. To discuss the implications for practice in a perinatal network. Material and methods CoNaissance 78 program is a collaboration between MYPA network, Conseil général des Yvelines, ARS Île-de-France and U953 Inserm unit. Continuous recording of data is produced using the first certificate of health (PCS) of infants born in the network maternities, an additional health certificate including data about severe maternal morbidity, perineal tears and episiotomies, and a stillbirth certificate including all cases of fetal deaths and medical termination of pregnancy from 22 weeks of gestation. Description of the population and obstetric practices with comparison between the network maternities covers the period from 2008 to 2011. Results The analysis includes 79,232 births. The used variables had a missing data rate below 5%. The mean maternal age at delivery was 30.9, women aged 35 years or above accounting for 23.2% of deliveries (from 17.1 to 32.8% according to the maternity, P < 0.001). Nullipara rate was 42.5% (from 36.6 to 50% according to the maternity, P < 0.001) and multiple pregnancies rate was 1.8% (from 0.3 to 3.4% according to the maternity, P < 0.001). Mode of onset of labor was spontaneous in 66.1% cases (from 55.5 to 72.9% according to the maternity, P < 0.001), induced in 21.5% cases (from 16.9 to 30.8% according to the maternity, P < 0.001) and a planned cesarean section was performed in 12.4% cases (from 8.4 to 19.6% according to the maternity, P < 0.001). The global mean rate of cesarean sections was 24.3% (from 18.4 to 29.6% according to the maternity, P < 0.001). The cesarean section rate was in a selected low risk group was 14.7% (from 11.4 to 20.2% [P < 0.001] according to the maternity). The episiotomy rate was 26.1% (from 16.3 to 43.6% [P < 0.001] according to the maternity). The rate of very preterm neonates born alive inside a tertiary center was 70.8%. Conclusion This program allowed to observe a large disparity in practices, and highlighted significant shortcomings in the organization of in utero transfers to the tertiary center for very preterm births. © 2013 Elsevier Masson SAS. All rights reserved.


PubMed | Center hospitalier Poissy Saint Germain, Conseil general des Yvelines, French Institute of Health and Medical Research, University of Versailles and CEA DAM Ile-de-France
Type: Journal Article | Journal: Journal de gynecologie, obstetrique et biologie de la reproduction | Year: 2014

To describe the methodology for continuous reporting of perinatal indicators in Maternit en Yvelines et Pays Associs (MYPA) network, and the main results for its evaluation. To discuss the implications for practice in a perinatal network.CoNaissance78 program is a collaboration between MYPA network, Conseil gnral des Yvelines, ARS le-de-France and U953 Inserm unit. Continuous recording of data is produced using the first certificate of health (PCS) of infants born in the network maternities, an additional health certificate including data about severe maternal morbidity, perineal tears and episiotomies, and a stillbirth certificate including all cases of fetal deaths and medical termination of pregnancy from 22weeks of gestation. Description of the population and obstetric practices with comparison between the network maternities covers the period from 2008 to 2011.The analysis includes 79,232births. The used variables had a missing data rate below 5%. The mean maternal age at delivery was 30.9, women aged 35years or above accounting for 23.2% of deliveries (from 17.1 to 32.8% according to the maternity, P<0.001). Nullipara rate was 42.5% (from 36.6 to 50% according to the maternity, P<0.001) and multiple pregnancies rate was 1.8% (from 0.3 to 3.4% according to the maternity, P<0.001). Mode of onset of labor was spontaneous in 66.1% cases (from 55.5 to 72.9% according to the maternity, P<0.001), induced in 21.5% cases (from 16.9 to 30.8% according to the maternity, P<0.001) and a planned cesarean section was performed in 12.4% cases (from 8.4 to 19.6% according to the maternity, P<0.001). The global mean rate of cesarean sections was 24.3% (from 18.4 to 29.6% according to the maternity, P<0.001). The cesarean section rate was in a selected low risk group was 14.7% (from 11.4 to 20.2% [P<0.001] according to the maternity). The episiotomy rate was 26.1% (from 16.3 to 43.6% [P<0.001] according to the maternity). The rate of very preterm neonates born alive inside a tertiary center was 70.8%.This program allowed to observe a large disparity in practices, and highlighted significant shortcomings in the organization of in utero transfers to the tertiary center for very preterm births.


Sonnier L.,Center Hospitalier Poissy Saint Germain | Bouhanna P.,Center Hospitalier Poissy Saint Germain | Arnou C.,Center Hospitalier Poissy Saint Germain | Rozenberg P.,Center Hospitalier Poissy Saint Germain | Rozenberg P.,University of Versailles
Gynecologie Obstetrique Fertilite | Year: 2014

Objective. Induction of labor for medical indications has become a routine practice. To date, the Bishop score remains as the standard method to predict the duration of induced labor. Elastography is an objective method of assessing the relative consistency of tissues. Therefore, we sought to assess strain elastography of cervix to predict delay from induction to delivery in pregnant women with a low Bishop score.Patients and methods. Ultrasound elastography was immediately performed before induction of labor for medical indications among patients with a singleton pregnancy at > 36 weeks of gestation and a Bishop score < 6. Patients received 50 mg of misoprostol intravaginally, repeated 6 hours later if regular painful uterine contractions had not started. A second ultrasound elastography was also performed 6 hours after starting the induction before the second dose of misoprostol if regular painful uterine contractions had not started. At each examination, a color map from blue (hardest tissue) to red (softest tissue) was produced. The cervical elastography was considered as positive if at least one part of its anterior wall was red. We assessed the predictive value of elastography on vaginal delivery within 24 hours. Patients delivering by cesarean section were excluded from this study.Results. Elastography was initially performed in 48 patients. Twelve patients delivering by cesarean section after induction of labor were excluded, leading to 36 patients evaluated in this study. Among these 36 patients with elastography performed before induction of labor, 20 had a second elastography before the second dose of misoprostol. Sensibility, specificity, positive predictive value (PPV) and negative predictive value (NPV) of elastography performed before induction of labor on vaginal delivery within 24 hours were 40%, 27.3%, 55.6%, and 16.7%, respectively. Sensibility, specificity, PPV and NPV of elastography performed before the second dose of misoprostol were 64.3%, 16.7%, 64.3% and 16.7%, respectively. Among the 8 patients with red color occurring on the second cervical color map, sensibility, specificity, PPV and NPV were 83.3%, 0%, 62.5%, and 0%.Discussion and conclusion. Qualitative cervical elastography is a poor predictor for delay from induction to delivery in pregnant women with a low Bishop score. © 2014 Elsevier Masson SAS. All rights reserved.


Chelli M.H.,Center Hospitalier Poissy Saint Germain
Journal of assisted reproduction and genetics | Year: 2013

This study sought to evaluate the value of motile sperm organelle morphology examination (MSOME) for selecting euploid spermatozoa in six patients who were heterozygous for a reciprocal translocation. We used sperm fluorescence in situ hybridization (FISH) to screen for aneuploidy of the chromosomes involved in the translocations and a putative interchromosomal effect (ICE) for chromosomes 18, X and Y. This procedure was performed on (i) whole sperm (i.e. no selection) and on normal spermatozoa selected (ii) at a magnification typically used for intracytoplasmic sperm injection (ICSI), referred to as "ICSI-like", and (iii) with MSOME. The balanced translocation rates did not differ significantly (p=0.81) when comparing whole sperm (57.2 %) with spermatozoa after ICSI-like selection (56.3 %) or after MSOME (53.7 %). Similarly, the aneuploidy rates for ICEs did not differ significantly (p=0.14) when comparing whole sperm (1.9 %), ICSI-selected spermatozoa (3.4 %) and MSOME-selected spermatozoa (1.0 %). For patients who are heterozygous for reciprocal translocations, MSOME does not improve the selection of euploid spermatozoa.


Chelli M.H.,Center Hospitalier Poissy Saint Germain | Ferfouri F.,Center Hospitalier Poissy Saint Germain | Ferfouri F.,University of Versailles | Boitrelle F.,Center Hospitalier Poissy Saint Germain | And 8 more authors.
Journal of Assisted Reproduction and Genetics | Year: 2013

Problem: This study sought to evaluate the value of motile sperm organelle morphology examination (MSOME) for selecting euploid spermatozoa in six patients who were heterozygous for a reciprocal translocation. Method of study: We used sperm fluorescence in situ hybridization (FISH) to screen for aneuploidy of the chromosomes involved in the translocations and a putative interchromosomal effect (ICE) for chromosomes 18, X and Y. This procedure was performed on (i) whole sperm (i.e. no selection) and on normal spermatozoa selected (ii) at a magnification typically used for intracytoplasmic sperm injection (ICSI), referred to as "ICSI-like", and (iii) with MSOME. Results: The balanced translocation rates did not differ significantly (p = 0.81) when comparing whole sperm (57.2 %) with spermatozoa after ICSI-like selection (56.3 %) or after MSOME (53.7 %). Similarly, the aneuploidy rates for ICEs did not differ significantly (p = 0.14) when comparing whole sperm (1.9 %), ICSI-selected spermatozoa (3.4 %) and MSOME-selected spermatozoa (1.0 %). Conclusion: For patients who are heterozygous for reciprocal translocations, MSOME does not improve the selection of euploid spermatozoa. © 2013 Springer Science+Business Media New York.

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