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.
El Hokayem J.,University of Paris Descartes |
Huber C.,University of Paris Descartes |
Couve A.,University of Paris Descartes |
Aziza J.,Laboratoire dAnatomie et Cytologie Pathologiques |
And 18 more authors.
Journal of Medical Genetics | Year: 2012
Background: The lethal short rib polydactyly syndromes (SRP type IeIV) are characterised by notably short ribs, short limbs, polydactyly, multiple anomalies of major organs, and autosomal recessive mode of inheritance. Among them, SRP type II (Majewski; MIM 263520) is characterised by short ovoid tibiae or tibial agenesis and is radiographically closely related to SRP type IV (Beemer-Langer; MIM 269860) which is distinguished by bowed radii and ulnae and relatively well tubulated tibiae. NEK1 mutations have been recently identified in SRP type II. Double heterozygosity for mutations in both NEK1 and DYNC2H1 in one SRP type II case supported possible digenic diallelic inheritance. Methods: The aim of this study was to screen DYNC2H1 and NEK1 in 13 SRP type II cases and seven SRP type IV cases. It was not possible to screen DYNC2H1 in two patients due to insufficient amount of DNA. Results: The study identified homozygous NEK1 mutations in 5/13 SRP type II and compound heterozygous DYNC2H1 mutations in 4/12 cases. Finally, NEK1 and DYNC2H1 were excluded in 3/12 SRP type II and in all SRP type IV cases. The main difference between the mutation positive SRP type II group and the mutation negative SRP type II group was the presence of holoprosencephaly and polymycrogyria in the mutation negative group. Conclusion: This study confirms that NEK1 is one gene causing SRP type II but also reports mutations in DYNC2H1, expanding the phenotypic spectrum of DYNC2H1 mutations. The exclusion of NEK1 and DYNC2H1 in 3/12 SRP type II and in all SRP type IV cases further support genetic heterogeneity.
Hypoplasia adrenal congenita of anencephalic type: Two cases with pituitary abnormalities and review of literature [L'hypoplasie surrénale congénitale de type,anencéphalique: deux cas avec anomalies, hypophysaires, sans mutation de DAX-1 et SF-1 et revue de la littérature]
Folligan K.,Laboratoire dhistologie et embryologie moleculaires |
Folligan K.,Laboratoire Dhistologie Embryologie |
Roume J.,Center Hospitalier Poissy Saint Germain |
Razavi F.,Unite de Foetopathologie |
And 4 more authors.
Morphologie | Year: 2011
Hypoplasia adrenal congenita is an extremely uncommon disease of early onset. This condition can be lethal in the absence of treatment. Some forms are due to the congenital adrenal hypoplasia of anencephalic type whose origin is even unknown. Here, we present two cases of congenital adrenal hypoplasia of anencephalic type with pituitary abnormalities. The two male newborns died because adrenal insufficiency in the neonatal period. The adrenal glands were hypoplastic with a histological structure of anencephalic type Immunocytochemical study of the pituitary revealed an absence of the gonadotrophs. No mutation of DAX 1 and SF-1 was found. © 2010 Elsevier Masson SAS.
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.
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.