A5024549593- Prenatal Screening and Diagnostics
- Sperm and Testicular Function
- Reproductive Biology and Fertility
- Genomic variations and chromosomal abnormalities
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Pregnancy and preeclampsia studies
- Reproductive System and Pregnancy
- Sexual Differentiation and Disorders
- Assisted Reproductive Technology and Twin Pregnancy
- Fetal and Pediatric Neurological Disorders
- Chromosomal and Genetic Variations
- Reproductive Health and Technologies
- Congenital heart defects research
- Endometriosis Research and Treatment
- Birth, Development, and Health
- Renal and related cancers
- Genetics and Neurodevelopmental Disorders
- Parvovirus B19 Infection Studies
- Genomics and Rare Diseases
- Genetic Syndromes and Imprinting
- Gestational Diabetes Research and Management
- Ovarian function and disorders
- Organ and Tissue Transplantation Research
- Testicular diseases and treatments
- Down syndrome and intellectual disability research
Centre Hospitalier Intercommunal de Poissy
2015-2024
Université de Versailles Saint-Quentin-en-Yvelines
2015-2024
Université Paris-Saclay
2016-2024
Institut National de Recherche pour l'Agriculture, l'Alimentation et l'Environnement
2020-2024
Biologie de la Reproduction, Environnement, Epigénétique et Développement
2004-2024
École Nationale Vétérinaire d'Alfort
2020-2024
Weatherford College
2022
Laboratoire d'Informatique Gaspard-Monge
2022
Inserm
2004-2019
Centre National de la Recherche Scientifique
2000-2019
The implementation of chromosomal microarray analysis (CMA) in prenatal testing for all patients has not achieved a consensus. Technical alternatives such as Prenatal BACs-on-Beads(TM) (PNBoBs(TM) ) have thus been applied. aim this study was to provide the frequencies submicroscopic defects detectable by PNBoBs(TM) under different indications.A total 9648 samples were prospectively analyzed karyotyping plus and classified indication. genomic their 95%CIs calculated each indication.The...
An embryo's ability to grow and implant can be improved by selection of a normal spermatozoon with vacuole-free head. However, large vacuoles in spermatozoa have yet fully characterized. The present study aimed determine whether these are nuclear, membrane and/or acrosomal origin. We studied 15 infertile patients differing sperm profiles. For each sample, we used high-magnification (×10 000) contrast microscopy select assess 30 'top' sperm-head vacuole (≥ 25% the head's cross-sectional...
It is well established that obesity associated with dysregulation of the ratio between two major adipokines leptin and adiponectin. Furthermore, it was recently reported maternal has a significant impact on placental development. Leptin adiponectin are present at fetal-maternal interface involved in development functional placenta. However, less known about adiponectin’s involvement alterations described obese women. Hence, objective study to characterize expression DNA methylation these...
Hyperhomocysteinemia, caused by a lack of cystathionine beta synthase (CBS), leads to elevated plasma concentrations homocysteine. This is common risk factor for atherosclerosis, stroke, and possibly neurodegenerative diseases. However, the mechanisms that link hyperhomocysteinemia due CBS deficiency these diseases are still unknown. Early biochemical studies describe developmental adult patterns transsulfuration expression in variety species. there incomplete knowledge about regional...
Infertility concerns a minimum of 70 million couples worldwide. An important proportion cases is believed to have genetic component, yet few causal genes been identified so far. In previous study, we demonstrated that homozygous mutation (c.144delC) in the Aurora Kinase C (AURKC) gene led production large-headed polyploid multi-flagellar spermatozoa, primary infertility phenotype mainly observed North Africans. We now want estimate prevalence defect, improve our understanding AURKC...
Introduction Obtaining an adequate number of high-quality oocytes is a major challenge in controlled ovarian hyperstimulation (COH). To date, range hormonal and clinical parameters have been used to optimize COH but none significant predictive value. This variability could be due the genetic predispositions single-nucleotide polymorphisms (SNPs). Here, we assessed individual combined impacts thirteen SNPs that reportedly influence outcome vitro fertilisation (IVF) on response rFSH...
<i>Objectives:</i> Etiologic diagnosis of multiple congenital abnormalities (MCAs) is often lacking. Large chromosome can be detected by conventional cytogenetic methods, but more subtle micro-rearrangements and/or de novo require multi-FISH analysis, which hampered the amount material available in prenatal testing. <i>Methods:</i> We used comparative genomic hybridization (CGH) array, Genosensor™ Array 300, to screen for classic microdeletion syndromes and...
Do DPY19L2 heterozygous deletions and point mutations account for some cases of globozoospermia? Two three were identified, thus further confirming that genetic alterations the gene are main cause globozoospermia indicating molecular diagnostics should not be stopped in absence a homozygous deletion. Globozoospermia is rare phenotype primary male infertility characterized by production majority round-headed spermatozoa without acrosome. We demonstrated previously most man caused recurrent...
Intracytoplasmic morphologically selected sperm injection (IMSI, 6300× magnification with Nomarski contrast) of a normal spermatozoon vacuole-free head could improve the embryo's ability to grow blastocyst stage and then implant. However, most relevant indications for IMSI remain be determined. To evaluate potential value patients high degree DNA fragmentation (n = 8), different types spermatozoa were analysed in terms fragmentation. Motile at had significantly lower mean rate (4.1 ± 1.1%, n...
Abstract: Even though cryopreservation of human spermatozoa is known to alter sperm motility and viability, it may also induce nuclear damages. The present study set out determine whether or not alters motile morphology under high magnification and/or associated with chromatin decondensation. For 25 infertile men, we used high‐magnification microscopy the proportions various types before after freezing‐thawing: morphometrically normal no vacuole (grade I), ≤2 small vacuoles II), at least 1...
Objective The 22q11.2 deletion (del22q11.2) is one of the most common microdeletions. We performed a collaborative, retrospective analysis in France prenatal diagnoses and outcomes fetuses carrying del22q11.2. Methods A total 272 were included. Data on diagnosis, ultrasound findings, pathological features, inheritance analyzed. Results mean time diagnosis was 25.6 ± 6 weeks gestation. Most (86.8%) prompted by abnormal findings [heart defects (HDs), 83.8% cases]. On fetal autopsy, HDs again...
ABSTRACT Objective To determine the frequency and nature of copy number variants (CNVs) identified by chromosomal microarray analysis (CMA) in a large cohort fetuses with isolated increased nuchal translucency thickness (NT) ≥ 3.5 mm. Methods This was retrospective, multicenter study, including 11 French hospitals, data from period between April 2012 December 2015. In total, 720 were analyzed rapid aneuploidy test as euploid underwent CMA. CNVs detected evaluated for clinical significance...
Although meiotic arrest in males is observed about 25% of azoospermic patients, pure homogeneous all seminiferous tubules less frequent, and may be due to mutation a single gene. However, given the large number genes involved meiosis, this gives rises extensive genetic heterogeneity. Only two abnormalities have been reported on regular basis: X-linked exonic TEX11 deletion, AZFb microdeletion Y chromosome. Other gene defects were private found consanguineous families. Here, we report...
As with many other diseases, genetic testing in human azoospermia was initially restricted to karyotype analyses (leading diagnostic chromosome rearrangement tests for Klinefelter and syndromes). With the advent of molecular biology 1980s, screening broadened Y microdeletions gene coding cystic fibrosis transmembrane conductance regulator (CFTR). Decades later, emergence whole-genome techniques has led identification defects associated azoospermia. Although TEX11 ADGRG2 are frequently...
Background Despite the availability of whole exome (WES) and genome sequencing (WGS), chromosomal microarray (CMA) remains first-line diagnostic test in most rare disorders workup, looking for copy number variations (CNVs), with a yield 10%–20%. The question equivalence CMA WES CNV calling is an organisational economic question, especially when ordering WGS after negative and/or WES. Methods This study measures between GATK4 depth coverage method detecting coding CNVs on retrospective cohort...
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 combination TESE yields substantial additional information and may potentially added as test to predict negative outcome of recurrent patients MA. WHAT IS KNOWN ALREADY At present, the only definitive contraindications non-obstructive azoospermia (NOA) are 46,XX karyotype microdeletions factor (AZFa)...
Can we identify new sequence variants in the aurora kinase C gene (AURKC) of patients with macrozoospermia and establish a genotype–phenotype correlation? We identified non-sense mutation, p.Y248*, that represents 13% all mutant alleles. There was no difference phenotype individuals carrying this mutation versus initially described main c.144delC. The absence functional AURKC causes primary infertility men by blocking first meiotic division leading to production tetraploid large-headed...