A5073331682- Prenatal Screening and Diagnostics
- Fetal and Pediatric Neurological Disorders
- Assisted Reproductive Technology and Twin Pregnancy
- Cytomegalovirus and herpesvirus research
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Pregnancy and preeclampsia studies
- RNA modifications and cancer
- Pelvic floor disorders treatments
- Parvovirus B19 Infection Studies
- Reproductive Health and Technologies
- Herpesvirus Infections and Treatments
- Pelvic and Acetabular Injuries
- Genetic Syndromes and Imprinting
- Tumors and Oncological Cases
- Ectopic Pregnancy Diagnosis and Management
- COVID-19 Impact on Reproduction
- Healthcare Systems and Practices
- Occupational and environmental lung diseases
- Ureteral procedures and complications
- Alcoholism and Thiamine Deficiency
- Congenital heart defects research
- Inflammasome and immune disorders
- Reproductive System and Pregnancy
- Appendicitis Diagnosis and Management
Hôpital Necker-Enfants Malades
2021-2025
Université Paris Cité
2021-2025
Inserm
2019-2025
Assistance Publique – Hôpitaux de Paris
2021-2025
Université de Bourgogne
2020-2025
CHU Dijon Bourgogne
2017-2025
Fédération Hospitalo-Universitaire, Paris Center for Microbiome Medicine
2024-2025
Institut des Maladies Génétiques Imagine
2023-2024
Institut Necker Enfants Malades
2024
Université Bourgogne Franche-Comté
2024
Abstract Background The treatment of congenital cytomegalovirus (CMV) infection is usually administered to neonates after birth; however, it can be anticipated during the prenatal period by treating pregnant women in order reduce severity disease. most commonly used for CMV pregnancy valaciclovir; valganciclovir has a higher potency against and first choice with Objectives We investigated neonatal maternal safety tertiary prevention infected fetuses showing ultrasound features using...
Introduction: Prenatal ultrasound (US) anomalies are detected in around 5%-10% of pregnancies. In prenatal diagnosis, exome sequencing (ES) diagnostic yield ranges from 6% to 80% depending on the inclusion criteria. We describe first French national multicenter pilot study aiming implement ES diagnosis following detection US. Patients and methods: prospectively performed trio-ES 150 fetuses with at least two US or one anomaly known be frequently linked a genetic disorder. Trio-ES was only if...
Molecular diagnosis based on singleton exome sequencing (sES) is particularly challenging in fetuses with multiple congenital abnormalities (MCA). Indeed, some studies reveal a diagnostic yield of about 20%, far lower than live birth individuals showing developmental (30%), suggesting that standard analyses, the correlation between clinical hallmarks described postnatal syndromic presentations and genotype, may underestimate impact genetic variants identified fetal analyses. We performed sES...
Background: Congenital cytomegalovirus (cCMV) infection is frequent and potentially severe. The immunobiology of cCMV poorly understood, involving cytokines that could be carried within or on the surface extracellular vesicles (EV). We investigated intra-amniotic cytokines, mediated not by EV, in infection. Methods: Forty infected fetuses following early maternal primary forty negative controls were included. Infected classified according to severity at birth: asymptomatic, moderately...
Abstract Objective Prenatal exome sequencing (pES) is now commonly used in clinical practice. It can be to identifiy an additional diagnosis around 30% of fetuses with structural defects and normal chromosomal microarray analysis (CMA). However, interpretation remains challenging due the limited prenatal data for genetic disorders. Method We conducted ancillary study including pathogenic/likely pathogenic variants identified by trio‐pES from “AnDDI‐Prenatome” study. The phenotype each...
To evaluate the effect of gestational age at laser therapy for twin-to-twin transfusion syndrome (TTTS) on perinatal outcome.Single retrospective observational cohort.All consecutive pregnancies affected by TTTS and referred to our department between January 2013 August 2020.Gestational was modelled both as a categorical continuous variable. Log-binomial regression used estimate odds ratios (crude adjusted placental location, Quintero stage cervical length) well predicted probability...
To describe clinical and molecular findings in a French multicenter cohort of fetuses with prenatal diagnosis congenital abnormality suspicion localized overgrowth disorder (LOD) suggestive genetic variants the PI3K-AKT-mTOR signaling pathway.We analyzed retrospectively data obtained between 1 January 2013 May 2020 from brain and/or limb referred for pathway genes by next-generation sequencing (NGS) using pathological tissue fetal autopsy. We also assessed diagnostic yield amniotic...
Abstract Objective Terminal 6q deletion is a rare genetic condition associated with neurodevelopmental disorder characterized by intellectual disability and structural brain anomalies. Interestingly, similar phenotype observed in patients harboring pathogenic variants the DLL1 gene. Our study aimed to further characterize prenatal of this syndrome as well attempt establish phenotype‐genotype correlations. Method We collected ultrasound findings from 22 fetuses diagnosed pure 6qter deletion....
None declared.
Introduction Tonne-Kalscheuer syndrome (TOKAS) is a recessive X-linked multiple congenital anomaly disorder caused by RLIM variations. Of the 41 patients reported, only 7 antenatal cases were described. Method After diagnosis of TOKAS exome analysis in family followed for over 35 years because anomalies five male fetuses, call collaboration was made, resulting cohort 11 previously unpublished cases. Results We present cohort, describing new 6 French families. report high frequency...
<title>Abstract</title> In 30-40% of fetuses with structural defects, the causal variant remains undiagnosed after karyotype, chromosomal microarray and exome sequencing. This study presents results a reanalysis unsolved prenatal ES (pES) investigates how postnatal/postmortem phenotyping contributes to identify relevant variants. Prospective pES data was performed in enrolled AnDDI-Prénatome cohort study. Postnatal/postmortem up 3 years were merged features using HPO terms. The involved...