A5013020381- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Reproductive Biology and Fertility
- Chromosomal and Genetic Variations
- Genetic Syndromes and Imprinting
- Sperm and Testicular Function
- Epigenetics and DNA Methylation
- Psychoanalysis and Psychopathology Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Reproductive Health and Technologies
- Sexual Differentiation and Disorders
- Fetal and Pediatric Neurological Disorders
- Parvovirus B19 Infection Studies
- BRCA gene mutations in cancer
- Assisted Reproductive Technology and Twin Pregnancy
- Congenital heart defects research
- Renal and related cancers
- Congenital Anomalies and Fetal Surgery
- Urological Disorders and Treatments
- Therapeutic Uses of Natural Elements
- Genomics and Rare Diseases
- Cancer-related gene regulation
- Genetic and Kidney Cyst Diseases
- Molecular Biology Techniques and Applications
- Myofascial pain diagnosis and treatment
Centre Hospitalier Intercommunal de Poissy
2007-2021
Université de Versailles Saint-Quentin-en-Yvelines
2009-2019
University of Córdoba
2010
Cornell University
2010
Inserm
1997-1999
Hôpital Necker-Enfants Malades
1997-1999
Institut Necker Enfants Malades
1998
Université Joseph Fourier
1998
Centre National de la Recherche Scientifique
1998
Institut Cochin
1998
DNA methylation patterns were evaluated during preimplantation mouse development by analyzing the binding of monoclonal antibody to 5-methylcytosine (5-MeC) on metaphase chromosomes. Specific chromosome observed in each cell stage. A banding pattern predominated chromosomes at one-cell Banding was replaced two-cell stage an asymmetrical labeling sister chromatids. Then, proportion decreased one-half division until blastocyst stage, and became progressively symmetrical weakly labeled. Our...
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...
<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...
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 We previously reported on the validation of Prenatal BACs‐on‐Beads TM retrospectively selected and prospective prenatal samples. This bead‐based multiplex assay detects chromosome 13, 18, 21 X/Y aneuploidies nine most frequent microdeletion syndromes. demonstrated that is a new‐generation, screening tool. Here, we describe experience five European diagnosis laboratories concerning ongoing use . Methods Some 1653 samples were analyzed. All results confirmed by conventional...
For nonobstructive azoospermic (NOA) patients with a normal karyotype or for Klinefelter syndrome (47,XXY) patients, intracytoplasmic sperm injection is associated an increased aneuploidy risk in offspring. We examined testicular cells from different azoospermia etiologies to determine the origin of aneuploid spermatozoa. The incidence chromosome abnormalities was investigated all types azoospermia. Four study subgroups were constituted: (group 1), NOA spermatogenesis failure but 2),...
Maternal ageing is the only aetiological factor unequivocally linked to aneuploidy. Two mechanisms seem explain these abnormalities in oocytes: non-disjunction and premature unbalanced separation of sister chromatids (PSSC). Previous studies unfertilized oocytes argue for a major role PSSC aetiology aneuploidy women advanced age, but vitro could influence results.Owing high prevalence chromosomal screening first polar body just before ICSI was offered (from 38 years age) included an assisted...
The objective of this study was to assess genome-wide DNA methylation in testicular tissue from azoospermic patients. A total 94 patients were recruited and classified into three groups: 29 presented obstructive azoospermia (OA), 26 displayed non-obstructive (NOA) successful retrieval spermatozoa by sperm extraction (TESE+) 39 NOA failure retrieve TESE (TESE-). An Illumina Infinium Human Methylation27 BeadChip array used establish a pattern for each type patient. OA groups compared terms the...
Small supernumerary marker chromosomes (sSMCs) are structurally abnormal that cannot be characterized by karyotype. In many prenatal cases of de novo sSMC, the outcome pregnancy is difficult to predict because euchromatin content unclear. This study aimed determine presence or absence material 39 prenatally ascertained sSMC array-comparative genomic hybridization (array-CGH) single nucleotide polymorphism (SNP) array. Cases were prospectively from 65,000 samples [0.060%; 95% confidence...
ABSTRACT Objectives Karyotyping is a well‐established method of investigating the genetic content product conceptions (POCs). Because high rate culture failure and maternal cell contamination, failed results or 46,XX findings are often obtained. Different molecular approaches that not dependent have been proposed to circumvent these limits. On basis robust experience previously obtained with bacterial artificial chromosomes (BACs)‐on‐Beads™ (BoBs™), we evaluated same technology had used for...
The methylation status of young <i>Alu </i>sequences was investigated in four ICF patients. In fibroblast and leukocyte DNAs, </i>repeats were either undermethylated (<i>Hha</i>I <i>Hpa</i>II digestion) or demethylated (<i>Bst</i>Ul digestion), contrast with the methylated <i>Alus </i>in control subjects. profile exhibited patients reproduces normal placental sperm DNA. High-sensitivity immunocytochemical detection...
DNA undermethylation is a characteristic feature of ICF syndrome and has been implicated in the formation juxtacentromeric chromosomal abnormalities this rare syndrome. We have previously shown that female patients inactive X chromosome (Xi) also undermethylated. This result was unexpected since are not more severely affected than male patients. Here we show CpG island methylation abnormal some but other patients, difference pattern between Xi Xa (active X) maintained. The consequences on...
Abstract Objective To analyze the indications and results of invasive testing for fetal karyotyping ultrasound abnormality in third trimester pregnancy, when first‐ second‐trimester screening tests were negative. Methods Retrospective study 171 consecutive pregnancies that underwent after 28 weeks gestation 2 institutions between January 1999 December 2001. Forty‐one patients did not have any form aneuploidy beforehand. One hundred thirty them had a normal first‐trimester scan low risk by...
Uniparental disomy (UPD) testing is currently recommended during pregnancy in fetuses carrying a balanced Robertsonian translocation (ROB) involving chromosome 14 or 15, both chromosomes containing imprinted genes. The overall risk that such fetus presents UPD has been previously estimated to be around ~0.6-0.8%. However, because are rare events and this estimate calculated from number of studies limited size, we have reevaluated the for whom one parents was known carry nonhomologous ROB...
Abstract We present a case of prenatal diagnosis de novo (7;19)(q11.2;q13.3) translocation associated with ultrasound features, including enlarged cisterna magna, normal vermis, thick corpus callosum , micrognathia, small and low‐set ears right hyperechogenic kidney. Karyotyping was performed at 24 weeks gestation. Termination pregnancy accepted the parents' request. Postmortem examination confirmed findings, but revealed bilateral Wilms tumors kidneys. Parental karyotype normal. Copyright ©...
Individuals with two independent chromosome rearrangements are rare and meiotic segregation studies few. Two brothers (P1 P2) a cousin (P3) were karyotyped found to have the same familial reciprocal translocation between long arm of 8 short 9: 46,XY,t(8;9)(q24.3;p24). In addition, one brother also had different de novo 1 16: 46,XY,t(1;16)(q21;p11.2)dn,t(8;9)(q24.3;p24)mat. Using locus-specific probes for segments involved in translocations other chromosomes, sperm-FISH analysis was used...
Résumé Cette recherche est née de la constatation clinique, à travers les récits vie d’hommes infertiles, l’existence perturbations dans leur filiation. Dans un premier temps, il s’agira déterminer, l’aide d’une grille filiation construite partir clinique psychanalytique, si, pour certains ces hommes le projet devenir père pourrait être entravé par difficulté se situer généalogie et s’identifier propre père. La comparaison d’un groupe 30 infertiles avec fertiles permet mettre en évidence...