30 results on '"Lucie Guilbaud"'
Search Results
2. Prevalence of <scp> COL4A1 </scp> and <scp> COL4A2 </scp> mutations in severe fetal multifocal hemorrhagic and/or ischemic cerebral lesions
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Stéphanie Friszer, M. Mine, Marie-Laure Moutard, Juliette Garel, Paul Maurice, Lucie Guilbaud, T. Coste, Catherine Garel, E. Tournier-Lasserve, Anaïs Dugas, Emeline Maisonneuve, D. Heron, and J.-M. Jouannic
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Adult ,Collagen Type IV ,Pathology ,medicine.medical_specialty ,Population ,Gestational Age ,Prenatal diagnosis ,Gene mutation ,Pregnancy ,Interquartile range ,Prenatal Diagnosis ,Prevalence ,Schizencephaly ,medicine ,Humans ,Radiology, Nuclear Medicine and imaging ,education ,Cerebral Hemorrhage ,Retrospective Studies ,education.field_of_study ,Fetus ,Radiological and Ultrasound Technology ,business.industry ,Pregnancy Outcome ,Obstetrics and Gynecology ,Gestational age ,General Medicine ,medicine.disease ,Porencephaly ,Malformations of Cortical Development ,Phenotype ,Reproductive Medicine ,Mutation ,Female ,business - Abstract
Objective To establish the prevalence of COL4A1 and COL4A2 gene mutations in fetuses presenting with a phenotype suggestive of cerebral injury. Methods This was a single-center retrospective analysis of all cases of fetal cerebral anomalies suggestive of COL4A1 or COL4A2 gene mutation over the period 2009-2018. Inclusion criteria were: (1) severe and/or multifocal hemorrhagic cerebral lesions; (2) multifocal ischemic-hemorrhagic cerebral lesions. These anomalies could be of different ages and associated with schizencephaly or porencephaly. Between fetuses with and those without a mutation, we compared gestational age at the time of diagnosis, parity and fetal gender. Results Among the 956 cases of cerebral anomaly diagnosed in our center during the 10-year study period, 18 fetuses were identified for inclusion. A pathogenic COL4A1 gene mutation was found in five of these cases, among which four were de-novo mutations. A variant of unknown significance was found in four fetuses: in the COL4A1 gene in one case and in the COL4A2 gene in three cases. No COL4A1 or COL4A2 mutation was found in the remaining nine fetuses. The median (interquartile range) gestational age at diagnosis was significantly lower in cases with a mutation (24 (22-26) weeks) than in cases without a mutation (32 (29.5-34.5) weeks) (P = 0.03). Conclusions A phenotype suggestive of cerebral injury was found in 18 of the 956 (1.9%) cases in our population, in 28% of which there was an associated COL4A1 or COL4A2 mutation. COL4A1 and COL4A2 gene mutations should be sought systematically in cases of severe and/or multifocal hemorrhagic or ischemic-hemorrhagic cerebral lesions, with or without schizencephaly or porencephaly. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.
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- 2021
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3. Comment je fais…une transfusion in utero ?
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J.-M. Jouannic, A. Mallet, A. Mailloux, Lucie Guilbaud, Ferdinand Dhombres, Paul Maurice, Emeline Maisonneuve, B. Lafon, and A. Cortey
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Gynecology ,medicine.medical_specialty ,Reproductive Medicine ,Fetal anemia ,business.industry ,medicine ,Obstetrics and Gynecology ,Intrauterine transfusion ,business - Published
- 2021
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4. Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation
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Marta Massimello, Delphine Héron, Tania Attié-Bitach, Myrtille Spentchian, Anne Faudet, Marie-Amélie Rocchisanni, Laurent Mandelbrot, Alexandra Benachi, Julien Saada, Florence Bretelle, Stéphanie Friszer, Paul Maurice, Catherine Garel, Julien Buratti, Mathilde Nizon, Valérie Layet, Jean-Marie Jouannic, Thierry Billette de Villemeur, Corinne Mach, Mathieu Milh, Lucie Guilbaud, Stéphanie Valence, Agnès Guët, Genevieve Quenum‐Miraillet, Sébastien Moutton, Rodolphe Dard, Sandra Chantot-Bastaraud, Valérie Olin, Magali Gorce, Daphné Lehalle, Marta Spodenkiewic, Marie-Laure Moutard, Linda Mouthon, Solveig Heide, Elodie Lejeune, Vassili Tsatsaris, Claire Beneteau, Marie Vincent, Laurent Guibaud, Sandra Whalen, Cyril Mignot, Vincent des Portes, Eléonore Blondiaux, Mathilde Lefebvre, Audrey Putoux, Boris Keren, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Trousseau [APHP], Service de pédiatrie spécialisée et médecine infantile (neurologie, pneumologie, maladies héréditaires du métabolisme) [Hôpital de la Timone - APHM], Hôpital de la Timone [CHU - APHM] (TIMONE), Service de gynécologie-obstétrique [Hôpital Nord - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital Nord [CHU - APHM], Hospices Civils de Lyon, Departement de Neurologie (HCL), Hospices Civils de Lyon (HCL), Service de Gynécologie et Obstétrique [Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Universitaire de Reims (CHU Reims), Groupe Hospitalier du Havre, CHI Poissy-Saint-Germain, Hôpital Louis Mourier - AP-HP [Colombes], Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Centre hospitalier universitaire de Nantes (CHU Nantes), AP-HP - Hôpital Cochin Broca Hôtel Dieu [Paris], AP-HP - Hôpital Antoine Béclère [Clamart], CHU Necker - Enfants Malades [AP-HP], Sorbonne Université (SU), Centre de Référence pour les Maladies Rares à expression psychiatrique (CRMR pour les maladies rares à expresion psychiatrique), Service de Psychiatrie de l'Enfant et de l'Adolescent [CHU Pitié-Salpêtrière] (SPEA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Génétique médicale [CHU Pitié-Salpêtrière], Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Service de pédiatrie et neurologie pédiatrique, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Hôpital Nord [CHU - APHM], Hôpital Cochin [AP-HP], Groupe Hospitalier du Havre Hôpital Jacques Monod (MONTIVILLIERS) (GHH), Centre hospitalier intercommunal de Poissy/Saint-Germain-en-Laye - CHIPS [Poissy], CHU Dijon, and Couvet, Sandrine
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0301 basic medicine ,Pediatrics ,medicine.medical_specialty ,prenatal ,[SDV]Life Sciences [q-bio] ,[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics ,030105 genetics & heredity ,MESH: Corpus Callosum ,Corpus callosum ,Ultrasonography, Prenatal ,prenatal exome sequencing ,Corpus Callosum ,03 medical and health sciences ,Fetus ,MESH: Pregnancy ,Pregnancy ,MESH: Child ,Intellectual disability ,medicine ,Humans ,Exome ,Prospective Studies ,Child ,Prospective cohort study ,Agenesis of the corpus callosum ,Genetics (clinical) ,Exome sequencing ,MESH: Exome ,MESH: Humans ,business.industry ,MESH: Ultrasonography, Prenatal ,MESH: Fetus ,medicine.disease ,MESH: Prospective Studies ,[SDV] Life Sciences [q-bio] ,030104 developmental biology ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,Female ,agenesis of the corpus callosum ,Abnormality ,business ,anomaly of the corpus callosum ,exome sequencing ,MESH: Female - Abstract
International audience; Purpose: Abnormality of the corpus callosum (AbnCC) is etiologically a heterogeneous condition and the prognosis in prenatally diagnosed cases is difficult to predict. The purpose of our research was to establish the diagnostic yield using chromosomal microarray (CMA) and exome sequencing (ES) in cases with prenatally diagnosed isolated (iAbnCC) and nonisolated AbnCC (niAbnCC).Methods: CMA and prenatal trio ES (pES) were done on 65 fetuses with iAbnCC and niAbnCC. Only pathogenic gene variants known to be associated with AbnCC and/or intellectual disability were considered.Results: pES results were available within a median of 21.5 days (9-53 days). A pathogenic single-nucleotide variant (SNV) was identified in 12 cases (18%) and a pathogenic CNV was identified in 3 cases (4.5%). Thus, the genetic etiology was determined in 23% of cases. In all diagnosed cases, the results provided sufficient information regarding the neurodevelopmental prognosis and helped the parents to make an informed decision regarding the outcome of the pregnancy.Conclusion: Our results show the significant diagnostic and prognostic contribution of CMA and pES in cases with prenatally diagnosed AbnCC. Further prospective cohort studies with long-term follow-up of the born children will be needed to provide accurate prenatal counseling after a negative pES result.
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- 2020
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5. The perineal midsagittal view in male fetuses — pivotal for assessing genitourinary disorders
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Hubert Ducou Le Pointe, Valeria Della Valle, Catherine Garel, Jean-Marie Jouannic, Juliette Garel, Lucie Guilbaud, Farah Khachab, and Eléonore Blondiaux
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Male ,Posterior urethral valve ,medicine.medical_specialty ,Urinary Bladder ,Prenatal diagnosis ,Vesicoureteral reflux ,Ultrasonography, Prenatal ,030218 nuclear medicine & medical imaging ,03 medical and health sciences ,0302 clinical medicine ,Male Urogenital Diseases ,Pregnancy ,Humans ,Medicine ,Radiology, Nuclear Medicine and imaging ,Urinary Tract ,Neuroradiology ,business.industry ,Obstetrics ,Genitourinary system ,Megacystis ,medicine.disease ,Urethra ,medicine.anatomical_structure ,Pediatrics, Perinatology and Child Health ,Female ,business ,030217 neurology & neurosurgery ,Penis - Abstract
A wide range of genitourinary pathologies can be diagnosed in utero, from a simple vesicoureteral reflux to a more complex disorder of sexual differentiation. The prognosis and neonatal management of these conditions differ significantly. Evaluation of the fetal perineal anatomy is paramount to making the right diagnosis. The aim of this pictorial essay is to show sonographers how to acquire a perineal midsagittal view in a male fetus, and to demonstrate how this specific view allows assessment of the urethra and penis, to differentiate various genitourinary pathologies.
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- 2019
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6. Prenatal ultrasonography of autosomal dominant polycystic kidney disease mimicking recessive type: case series
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Juliette Garel, Hubert Ducou Le Pointe, Marie Cassart, Valeria Della Valle, Mathilde Lefebvre, Jean-Marie Jouannic, Eléonore Blondiaux, Lucie Guilbaud, and Catherine Garel
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Male ,Pathology ,medicine.medical_specialty ,Autosomal dominant polycystic kidney disease ,Prenatal diagnosis ,urologic and male genital diseases ,Ultrasonography, Prenatal ,Fetal Kidney ,030218 nuclear medicine & medical imaging ,Diagnosis, Differential ,03 medical and health sciences ,Fatal Outcome ,0302 clinical medicine ,Pregnancy ,medicine ,Humans ,Radiology, Nuclear Medicine and imaging ,Family history ,Polycystic Kidney, Autosomal Recessive ,Retrospective Studies ,Genetic testing ,PKD1 ,medicine.diagnostic_test ,urogenital system ,business.industry ,Infant, Newborn ,Abortion, Induced ,Polycystic Kidney, Autosomal Dominant ,medicine.disease ,female genital diseases and pregnancy complications ,Autosomal Recessive Polycystic Kidney Disease ,Pediatrics, Perinatology and Child Health ,Female ,Autopsy ,Enlarged kidney ,business ,030217 neurology & neurosurgery - Abstract
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disease. This pathology has been increasingly diagnosed in utero and several sonographic patterns are well described in the literature. To present a series of fetuses with an unusual imaging pattern of ADPKD, mimicking autosomal recessive polycystic kidney disease (ARPKD). We retrospectively reviewed second-line ultrasound (US) scans performed for suspicion of fetal kidney pathology between 2006 and 2018. Inclusion criteria were (1) proven ADPKD on the basis of a known family history and/or of genetic testing and (2) US features suggestive of ARPKD. We recorded the clinical, imaging, genetic and pathological findings in cases with pregnancy termination. Three out of 12 patients with proven ADPKD diagnosed in utero presented with US features suggestive of ARPKD. Furthermore, an additional patient observed at another institution was added to the series. History of familial ADPKD was present in three cases. US showed enlarged kidneys with increased cortical echogenicity, decreased corticomedullary differentiation, multiple medullary cysts and decreased amniotic fluid in all four cases. Pregnancy was terminated in two cases (histology confirmed features in keeping with ADPKD), one premature neonate died (histology in progress) and one child is alive. Genetic testing showed a homozygous mutation of the PKD1 gene in two patients, a heterozygous mutation of the PKD1 gene in one patient and was not performed in the remaining patient. This series describes an unusual sonographic prenatal presentation of ADPKD, not yet well described in the radiologic literature, mimicking ARPKD.
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- 2019
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7. Pregnancy outcome after first trimester exposure to ionizing radiations
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Delphine Beghin, Hubert Ducou Le Pointe, Eléonore Blondiaux, Ferdinand Dhombres, Stéphanie Friszer, Jean-Marie Jouannic, Lucie Guilbaud, Elisabeth Elefant, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Service de Radiologie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)
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Adult ,medicine.medical_specialty ,Diaphragmatic breathing ,[SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics ,Ionizing radiations ,Miscarriage ,Ionizing radiation ,03 medical and health sciences ,0302 clinical medicine ,Pregnancy ,Radiation, Ionizing ,Humans ,Medicine ,Prospective Studies ,030212 general & internal medicine ,Fetal exposure ,Univariate analysis ,Fetal Growth Retardation ,030219 obstetrics & reproductive medicine ,business.industry ,Obstetrics ,Pregnancy Outcome ,Abnormalities, Drug-Induced ,Obstetrics and Gynecology ,General Medicine ,medicine.disease ,3. Good health ,Abortion, Spontaneous ,Pregnancy Trimester, First ,First trimester ,Reproductive Medicine ,Maternal Exposure ,In utero ,Prenatal Exposure Delayed Effects ,Teratogenesis ,[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie ,Female ,business ,Diagnostic radiations ,Cohort study - Abstract
International audience; OBJECTIVE: To evaluate the effects of ionizing radiation exposure during the first trimester of pregnancy in usual clinical situations.STUDY DESIGN: We conducted a prospective observational cohort study using data collected between 1987 and 2014. This database was authorized by the French "Commission Nationale de l'Informatique et des Libertés". The exposed group consisted of 319 pregnant women exposed to sub diaphragmatic ionizing radiations for diagnostic purposes, during the first trimester of pregnancy, and the control group consisted of 319 pregnant women without any exposure or exposed to non-teratogenic agents. Data on maternal history and radiations exposure were collected on first contact, and pregnancy outcomes were documented at follow-up. An univariate analysis was performed to compare both groups for the main outcomes.RESULTS: Exposure to sub diaphragmatic ionizing radiation for diagnosis purpose (median fetal dose of 3.1 mGy [0.2-130.0]) during the first trimester of pregnancy was not significantly associated with an increased risk of malformations (1.5% vs 1.8%, p = 1.00), miscarriage (7.8% vs 7.2%, p = 0.88), in utero fetal death (0.3% vs 0%, p = 1.00) or fetal growth restriction (5.4% vs 3.5%, p = 0.62).CONCLUSION: Pregnant women exposed to irradiant diagnostic procedures do not present a higher risk of malformations, miscarriage, in utero fetal death or fetal growth restriction and should be reassured, even if the examination focused on the pelvis.
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- 2019
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8. The Myelic Limited Dorsal Malformation: Prenatal Ultrasonographic Characteristics of an Intermediate Form of Dysraphism
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Ferdinand Dhombres, Paul Maurice, Eléonore Blondiaux, Lucie Guilbaud, Emeline Maisonneuve, Pauline Lallemant-Dudek, Jean-Marie Jouannic, Timothée de Saint-Denis, Catherine Garel, Hubert Ducou Le Pointe, Michel Zerah, and Saskia Vande Perre
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Dorsum ,Embryology ,medicine.medical_specialty ,Amniotic fluid ,Meningomyelocele ,Prenatal diagnosis ,Pregnancy ,medicine ,Humans ,Radiology, Nuclear Medicine and imaging ,Spinal Dysraphism ,Retrospective Studies ,Fetus ,medicine.diagnostic_test ,Obstetrics ,business.industry ,Infant, Newborn ,Obstetrics and Gynecology ,Retrospective cohort study ,Magnetic resonance imaging ,General Medicine ,Myeloschisis ,medicine.disease ,Amniotic Fluid ,Magnetic Resonance Imaging ,Pediatrics, Perinatology and Child Health ,Female ,business - Abstract
Objectives: The aim of the study was to report a subtype of dysraphism designated as myelic limited dorsal malformation (MyeLDM) and to describe its characteristics at prenatal ultrasound (US). Methods: It was a retrospective study from 2014 to 2020 based on second-line US evaluation of patients referred to our institution for myelomeningocele (MMC). Magnetic resonance imaging and acetylcholine esterase evaluation in the amniotic fluid were also offered. Major and minor criteria for open and closed dysraphism were defined and recorded for each patient. Patients were included as MyeLDM when both criteria of closed and open dysraphism were observed in the same fetus. Correlations were obtained with the postpartum data. Results: Twenty patients fulfilled the inclusion criteria, some of them being very close to MMC, others very close to limited dorsal myeloschisis (LDM), and others lying in between. There were 13 live-born neonates and 7 terminations of pregnancy. Correlations between prenatal and postpartum data were overall very good. Conclusion: Our series describe the ultrasonographic characteristics of an intermediate type of dysraphism and suggest that there is a continuum between MMC and LDM with numerous possibilities of hybrid forms (MyeLDM) sharing characteristics of both open and closed dysraphisms.
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- 2021
9. Open fetal surgery for myelomeningocele repair in France
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Pauline Lallemant, Véronique Forin, Mohamed-Ali Lachtar, Paul Maurice, Ferdinand Dhombres, Michel Zerah, Timothée De Saint-Denis, Catherine Garel, Lucie Guilbaud, Federico Di Rocco, A. Rigouzzo, Marie-Laure Moutard, Emeline Maisonneuve, Stéphanie Friszer, Jean-Marie Jouannic, Service de Médecine Fœtale [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Service de Neuropédiatrie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), and Service de réanimation néonatale et pédiatrique [CHU Trousseau]
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Male ,medicine.medical_specialty ,Meningomyelocele ,Dysraphism ,Open maternal fetal surgery ,Myeloschisis ,[SDV]Life Sciences [q-bio] ,medicine.medical_treatment ,Population ,Dehiscence ,03 medical and health sciences ,0302 clinical medicine ,Pregnancy ,medicine ,Humans ,education ,Spina bifida ,Fetal surgery ,education.field_of_study ,Fetus ,030219 obstetrics & reproductive medicine ,business.industry ,Fetoscopy ,Obstetrics and Gynecology ,Gestational age ,medicine.disease ,3. Good health ,Surgery ,Fetal Diseases ,Reproductive Medicine ,030220 oncology & carcinogenesis ,Female ,Myelomeningocele ,business ,Complication ,Premature rupture of membranes - Abstract
International audience; Introduction: - Open fetal myelomeningocele (MMC) surgery is currently the standard of care option for prenatal MMC repair. We described the population referred to our center and reviewed outcome after open fetal MMC repair.Material and methods: - All patients referred to our center for MMC were reviewed from July 2014 to June 2020. For all the patients who underwent fetal MMC repair, surgical details, maternal characteristics and data from the neonatal to the three-years-old evaluations were collected.Results: - Among the 126 patients referred to our center, 49.2% were eligible and 27.4% (n=17) of them underwent fetal MMC repair. Average gestational age at fetal surgery was 24+6 weeks. There was no case of fetal complication and the only maternal complication was one case of transfusion. We recorded 70% of premature rupture of membranes and 47% of premature labor. Average gestational age at delivery was 34+2 weeks and no patient delivered before 30 weeks. There was no case of uterine scar dehiscence or maternal complication during cesarean section. After birth, 59% of the children had a hindbrain herniation reversal. At 1-year-old, 42% were assigned a functional level of one or more better than expected according to the prenatal anatomic level and 25% required a ventriculoperitoneal shunt. At 3-year-old, all the children attended school and 75% were able to walk with orthotics or independently.Conclusion: - Open fetal surgery enables anatomical repair of the MMC lesion, a potential benefit on cerebral anomalies and motor function, with a low rate of perinatal and maternal complications.
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- 2021
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10. New insights in cerebral findings associated with fetal myelomeningocele: a retrospective cohort study in a single tertiary centre
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Catherine Garel, Juliette Garel, Paul Maurice, Ferdinand Dhombres, Lucie Guilbaud, Stéphanie Friszer, Emeline Maisonneuve, H. Ducou Le Pointe, J.-M. Jouannic, Eléonore Blondiaux, Service de Médecine Fœtale [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
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Microcephaly ,medicine.medical_treatment ,[SDV]Life Sciences [q-bio] ,myelomeningocele ,Corpus callosum ,MESH: Magnetic Resonance Imaging ,corpus callosum ,0302 clinical medicine ,MESH: Pregnancy ,Pregnancy ,education.field_of_study ,030219 obstetrics & reproductive medicine ,Obstetrics ,ultrasound ,Pregnancy Outcome ,Obstetrics and Gynecology ,Brain ,MESH: Ultrasonography, Prenatal ,Magnetic Resonance Imaging ,3. Good health ,Fetal Diseases ,MESH: Fetal Diseases ,Female ,Adult ,medicine.medical_specialty ,Meningomyelocele ,Cerebral anomalies ,Population ,Prenatal diagnosis ,Ultrasonography, Prenatal ,MESH: Meningomyelocele ,03 medical and health sciences ,MESH: Brain ,medicine ,Humans ,education ,Retrospective Studies ,Fetus ,prenatal diagnosis ,MESH: Humans ,business.industry ,Fetal surgery ,Retrospective cohort study ,MESH: Adult ,MESH: Retrospective Studies ,medicine.disease ,MESH: Pregnancy Outcome ,business ,MESH: Female ,Ventriculomegaly - Abstract
International audience; Objective: To investigate cerebral anomalies other than Chiari type 2 malformation in fetuses with myelomeningocele (MMC).Design: A retrospective cohort study in a single tertiary centre.Setting: A review of associated cerebral anomalies in cases with prenatal diagnosis of myelomeningocele.Population: Seventy cases of fetal myelomeningocele.Methods: Ultrasound and MRI images were blindly reviewed. Postnatal imaging and results of the postmortem results were also reviewed. The association between cerebral anomalies and the following ultrasound findings was measured: level of the defect, ventriculomegaly, microcephaly and fetal talipes.Main outcome measures: A microcephaly was observed in 32/70 cases (46%) and a ventriculomegaly was observed in 39/70 cases (56%). Other cerebral anomalies were diagnosed in 47/70 (67%).Results: Other cerebral anomalies were represented by 42/70 cases with abnormal CC (60%), 8/70 cases with perinodular heterotopia (PNH; 11%), 2/70 cases with abnormal gyration (3%). MRI performed only in fetal surgery cases confirmed the ulltrasound findings in all cases and provided additional findings in two cases (PNH). Risk ratios of fetal cerebral anomalies associated with MMC did not reach significance for microcephaly, ventriculomegaly, talipes or the level of the defect There was an overall good correlation between pre- and postnatal findings with a Kappa value of 0.79 [95% CI 0.57-1] and 82% agreement.Conclusion: Fetal brain anomalies other than Chiari type 2 malformation are frequently observed in fetuses with myelomeningocele, predominantly represented by CC anomalies. Whether these associated cerebral anomalies have an impact on selecting cases eligible for fetal surgery needs further evaluation.Tweetable abstract: Fetal cerebral anomalies other than Chiari type 2 malformation, microcephaly, and ventriculomegaly may be associated with MMC in up to 67% of the cases.
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- 2021
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11. Intrahepatic cholestasis of pregnancy associated with azathioprine: A case series
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Hélène Céruti, Gilles Kayem, Benoit Coffin, Chloé Dussaux, Anne Gervais, Lucie Guilbaud, Laurent Mandelbrot, Aurélie Beaufrère, and Emeline Maisonneuve
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Adult ,medicine.medical_specialty ,Cholagogues and Choleretics ,Remission, Spontaneous ,Azathioprine ,Cholestasis, Intrahepatic ,Third trimester ,Inflammatory bowel disease ,Gastroenterology ,Bile Acids and Salts ,03 medical and health sciences ,0302 clinical medicine ,Crohn Disease ,Pregnancy ,Internal medicine ,Medicine ,Humans ,In patient ,Colitis ,Mesalamine ,Retrospective Studies ,Crohn's disease ,030219 obstetrics & reproductive medicine ,integumentary system ,business.industry ,Drug Substitution ,musculoskeletal, neural, and ocular physiology ,Pruritus ,Ursodeoxycholic Acid ,Obstetrics and Gynecology ,medicine.disease ,humanities ,nervous system diseases ,Pregnancy Complications ,Reproductive Medicine ,Withholding Treatment ,030220 oncology & carcinogenesis ,Colitis, Ulcerative ,Female ,France ,business ,Cholestasis of pregnancy ,Immunosuppressive Agents ,medicine.drug - Abstract
Background Intrahepatic cholestasis of pregnancy (ICP) is characterised by otherwise unexplained maternal pruritus, increased serum bile acid concentration over 10 μmol/L and spontaneous relief of symptoms and liver abnormalities after delivery. It occurs most frequently during the third trimester and is usually not induced by medication. Besides, azathioprine is recommended as first-line immunosuppressant in patients with steroid-dependent inflammatory bowel disease and is allowed during pregnancy, in order to stabilize maternal disease. Methods We reviewed all cases of ICP between 2010 and 2018 in two French perinatal centers. Results We encountered eight pregnancies complicated by atypical ICP among patients treated with azathioprine. ICP associated with azathioprine appears to be biologically more severe and to occur earlier than "standard" ICP. Furthermore, clinical and biochemical abnormalities related to ICP disappear when azathioprine is discontinued. Azathioprine safety should be reconsidered and practitioners advised to discuss discontinuing this drug as soon as ICP diagnosis is established.
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- 2020
12. Prevention of Neural Tube Defects by Folic Acid Supplementation: A National Population-Based Study
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Ferdinand Dhombres, Jean-Marie Jouannic, Benoît de la Fournière, Sabine de Foucaud, Michel Zerah, Pauline Lallemant, Paul Maurice, Lucie Guilbaud, Service de Médecine Fœtale [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Laboratoire d'Informatique Médicale et Ingénierie des Connaissances en e-Santé (LIMICS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Sorbonne Paris Nord, Service de Neuropédiatrie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service de neurochirurgie pédiatrique [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), HAL-SU, Gestionnaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
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Flour ,myelomeningocele ,neural tube defect ,Eating ,0302 clinical medicine ,prevention ,Pregnancy ,Medicine ,Neural Tube Defects ,Registries ,030212 general & internal medicine ,education.field_of_study ,030219 obstetrics & reproductive medicine ,Nutrition and Dietetics ,[SDV.MHEP] Life Sciences [q-bio]/Human health and pathology ,Neural tube defect ,Obstetrics ,3. Good health ,spina bifida ,Food, Fortified ,Population study ,Female ,France ,Preconception Care ,lcsh:Nutrition. Foods and food supply ,Adult ,medicine.medical_specialty ,Population ,lcsh:TX341-641 ,Pharmacy ,folate ,Article ,Young Adult ,03 medical and health sciences ,folic acid ,Humans ,Medical prescription ,education ,Retrospective Studies ,business.industry ,Spina bifida ,Maternal Nutritional Physiological Phenomena ,medicine.disease ,birth defects ,Dietary Supplements ,Observational study ,business ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology ,Food Science - Abstract
International audience; Folic acid supplementation is recommended for neural tube defect prevention during pregnancy. We conducted an observational, retrospective national registry study to determine the rate of dispensing of periconceptional folic acid after prescription in a sample of French women representative of the general population. Our study population (n = 186,061) was a representative sample of the French population, recorded in the Health Data System database on pharmacy dispensing of medication and mandatory reporting of pregnancy. Between 2006 and 2016, 14.3% of pregnant women had a prescription for folic acid supplementation during the month preceding conception and for the first 12 weeks of pregnancy. Of these prescriptions, 30.9% were issued before the start of pregnancy. This percentage was lower for first pregnancies. The rate of pharmacy dispensing during the preconception period increased progressively from 3.8% to 8.3% between 2006 and 2016. In France, the rate of pharmacy dispensing of periconceptional folic acid after medical prescription is very low and does not follow international recommendations. It seems essential to implement awareness-raising policies targeting the general population and physicians regarding effective periconceptional supplementation, particularly starting in the preconception period. Clarification of international recommendations and fortification of flour could improve the efficacy of folate supplementation at population level.
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- 2020
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13. Geste d’arrêt de vie fœtale : techniques pour les interruptions médicales de grossesse des deuxième et troisième trimestres
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A. Rigouzzo, Lucie Guilbaud, Ferdinand Dhombres, A.-M. Darras, Paul Maurice, Emeline Maisonneuve, J.-M. Jouannic, Service de Médecine Fœtale [CHU Trousseau], CHU Trousseau [APHP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
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Gynecology ,Fetus ,medicine.medical_specialty ,030219 obstetrics & reproductive medicine ,Lidocaine ,business.industry ,[SDV]Life Sciences [q-bio] ,Obstetrics and Gynecology ,Umbilical cord ,3. Good health ,03 medical and health sciences ,0302 clinical medicine ,medicine.anatomical_structure ,Reproductive Medicine ,Feticide ,030225 pediatrics ,medicine ,Gestation ,Prenatal perception ,Late termination of pregnancy ,business ,Live birth ,medicine.drug - Abstract
Performing a feticide as part of termination of late pregnancy is recommended in many countries. Feticide avoids a live birth of a severely affected premature newborn and prevents fetal pain. There are limited data on feticide procedures since only a few countries in the world authorize late termination of pregnancy. The objective of this review was to assess the most appropriate feticide procedure based on published data during the last thirty years. Administration of an initial fetal analgesia followed by a lethal lidocaine injection through the umbilical cord, under ultrasound guidance, appears to be the most effective, safe and ethical way to perform feticide. According to the current knowledge regarding the risk of fetal pain and survival of extremely preterm infants, a feticide should be discussed as early as 20-22 weeks of gestation.
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- 2020
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14. Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies
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Marie-Victoire Senat, Lucie Guilbaud, Farah Hodeib, Aïcha Boughalem, Jean Marc Costa, Pascale Kleinfinger, Alexandra Benachi, Armelle Luscan, Marie-Christine Manca-Pellissier, Hakima Lallaoui, Laurent Bidat, V. Debarge, Gwenaël Le Guyader, Hélène Laurichesse Delmas, Véronique Satre, Vanina Castaigne, Laurence Lohmann, Detlef Trost, Mylène Valduga, Marie-Pierre Brechard, Laboratoire CERBA [Saint Ouen l'Aumône], Centre Hospitalier René Dubos [Pontoise], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre Hospitalier Intercommunal de Créteil (CHIC), Université Paris-Saclay, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Hôpital Saint-Joseph [Marseille], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Service Génétique Médicale [CHU Poitiers], Centre hospitalier universitaire de Poitiers (CHU Poitiers), Centre Hospitalier Universitaire [Grenoble] (CHU), Institute for Advanced Biosciences / Institut pour l'Avancée des Biosciences (Grenoble) (IAB), Centre Hospitalier Universitaire [Grenoble] (CHU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang - Auvergne-Rhône-Alpes (EFS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), CHU Clermont-Ferrand, Service de pédiatrie multidisciplinaire [Hôpital de la Timone Enfants - APHM], Hôpital de la Timone [CHU - APHM] (TIMONE), AP-HP - Hôpital Antoine Béclère [Clamart], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Gestionnaire, Hal Sorbonne Université
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medicine.medical_specialty ,VeriSeq NIPT Solution v2 ,atypical chromosomal anomalies ,lcsh:Medicine ,specificity ,[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics ,[SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics ,Genome ,Article ,03 medical and health sciences ,0302 clinical medicine ,Medicine ,non-invasive prenatal test ,Two sample ,deletion ,0303 health sciences ,Fetus ,030219 obstetrics & reproductive medicine ,business.industry ,Obstetrics ,structural unbalanced anomalies ,lcsh:R ,030305 genetics & heredity ,Non invasive ,genome-wide screening strategy ,General Medicine ,Limiting ,rare autosomal aneuploidy ,sensitivity ,3. Good health ,[SDV.MHEP.GEO] Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics ,Increased risk ,duplication ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,Cohort ,positive predictive value ,business ,Serum screening - Abstract
Atypical fetal chromosomal anomalies are more frequent than previously recognized and can affect fetal development. We propose a screening strategy for a genome-wide non-invasive prenatal test (NIPT) to detect these atypical chromosomal anomalies (ACAs). Two sample cohorts were tested. Assay performances were determined using Cohort A, which consisted of 192 biobanked plasma samples&mdash, 42 with ACAs, and 150 without. The rate of additional invasive diagnostic procedures was determined using Cohort B, which consisted of 3097 pregnant women referred for routine NIPT. Of the 192 samples in Cohort A, there were four initial test failures and six discordant calls, overall sensitivity was 88.1% (37/42, CI 75.00&ndash, 94.81) and specificity was 99.3% (145/146, CI 96.22&ndash, 99.88). In Cohort B, there were 90 first-pass failures (2.9%). The rate of positive results indicating an anomaly was 1.2% (36/3007) and 0.57% (17/3007) when limited to significant unbalanced chromosomal anomalies and trisomies 8, 9, 12, 14, 15, 16, and 22. These results show that genome-wide NIPT can screen for ACAs with an acceptable sensitivity and a small increase in invasive testing, particularly for women with increased risk following maternal serum screening and by limiting screening to structural anomalies and the most clinically meaningful trisomies.
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- 2020
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15. Contribution of computed tomography and magnetic resonance imaging in the analysis of fetal craniofacial malformations
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Catherine Garel, Lucie Guilbaud, Saskia Vande Perre, Eléonore Blondiaux, Hubert Ducou Le Pointe, and Véronique Soupre
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medicine.medical_specialty ,030218 nuclear medicine & medical imaging ,Craniosynostosis ,Craniofacial Abnormalities ,03 medical and health sciences ,0302 clinical medicine ,Fetus ,medicine ,Humans ,Radiology, Nuclear Medicine and imaging ,Craniofacial ,Nose ,Neuroradiology ,Cephalocele ,medicine.diagnostic_test ,business.industry ,Ultrasound ,Magnetic resonance imaging ,medicine.disease ,Magnetic Resonance Imaging ,3. Good health ,medicine.anatomical_structure ,Face ,Pediatrics, Perinatology and Child Health ,Radiology ,business ,Tomography, X-Ray Computed ,030217 neurology & neurosurgery - Abstract
A wide range of craniofacial malformations can be diagnosed in utero using ultrasonography. However, even with highly experienced sonographers and diagnostic physicians and optimal conditions of examination, some anatomical structures cannot be properly analyzed by this technique. The aim of this pictorial essay is to show the additional value of fetal magnetic resonance imaging and computed tomography in this setting and to illustrate the role of these modalities in facial clefts; craniosynostosis; ear, eye and nose abnormalities; otomandibular dysplasias; and facial cephaloceles.
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- 2020
16. In utero treatment of myelomeningocele with allogenic umbilical cord-derived mesenchymal stromal cells in an ovine model
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Miryam Mebarki, Audrey Cras, Clovis Adam, Michel Zerah, Carole Deflers, Pauline Lallemant, Anaïs Dugas, Lucie Guilbaud, Thomas Lilin, Lionel Faivre, Jérôme Larghero, Jean-Marie Jouannic, and Mathilde Weber
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Fetus ,Pathology ,medicine.medical_specialty ,Meningomyelocele ,Sheep ,Fetal surgery ,Spina bifida ,business.industry ,medicine.medical_treatment ,Mesenchymal Stem Cells ,General Medicine ,Mesenchymal Stem Cell Transplantation ,Spinal cord ,medicine.disease ,Umbilical cord ,General Biochemistry, Genetics and Molecular Biology ,Umbilical Cord ,medicine.anatomical_structure ,Fibrosis ,In utero ,medicine ,Animals ,Gestation ,business - Abstract
Summary Purpose of the study The purpose of our study was to investigate the effects of ovine umbilical cord-derived mesenchymal stromal cells (UC-MSCs) seeded in a fibrin patch as an adjuvant therapy for fetal myelomeningocele repair in the ovine model. Materials and methods MMC defects were surgically created at 75 days of gestation and repaired 15 days later with UC-MSCs patch or an acellular patch. At birth, motor function, tail movements, and voiding abilities were recorded. Histological and immunohistochemical analysis included study of MMC defect's healing, spinal cord, UC-MSCs survival, and screening for tumors. Results Six lambs were born alive in each group. There was no difference between the two groups on the median sheep locomotor rating score but all lambs in the control group had a score between lower than 3 compared to 50% in UC-MSCs group. There were more lambs with tail movements and voiding ability in UC-MSCs group (83% vs 0% and 50% vs 0%, respectively). gray matter area and large neurons density were higher in UC-MSCs group (2.5 vs 0.8 mm2 and 19.3 vs 1.6 neurons/mm2 of gray matter, respectively). Fibrosis thickness at the myelomeningocele scar level was reduced in UC-MSCs group (1269 µm vs 2624 µm). No tumors were observed. Conclusion Fetal repair of myelomeningocele using allogenic UC-MSCs patch provides a moderate improvement in neurological functions, gray matter and neuronal preservation and prevented from fibrosis development at the myelomeningocele scar level.
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- 2022
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17. Fetoscopic patch coverage of experimental myelomenigocele using a two-port access in fetal sheep
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Federico Di Rocco, Stéphanie Friszer, Lucie Guilbaud, Jean-Marie Jouannic, Michel Zerah, Ferdinand Dhombres, Charles Garabedian, Bettina Bessières, Nathalie Roux, and Catherine Fallet-Bianco
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medicine.medical_specialty ,Meningomyelocele ,Surgical adhesive ,medicine.medical_treatment ,Neurosurgical Procedures ,Port access ,Fetoscopy ,03 medical and health sciences ,Fetus ,0302 clinical medicine ,Suture (anatomy) ,Pregnancy ,medicine ,Animals ,030212 general & internal medicine ,Fetal loss ,Sheep ,030219 obstetrics & reproductive medicine ,medicine.diagnostic_test ,Fetal surgery ,business.industry ,Open surgery ,Prenatal Care ,General Medicine ,Surgery ,Pregnancy Complications ,Disease Models, Animal ,Fetal Diseases ,Anesthesia ,Pediatrics, Perinatology and Child Health ,Female ,Neurology (clinical) ,business - Abstract
This study aims to assess the feasibility and the effectiveness of a fetoscopic myelomeningocele (MMC) coverage using a sealed inert patch through a two-port access, in the sheep model. Forty-four fetuses underwent surgical creation of a MMC defect at day 75 and were divided into four groups according to the MMC repair technique, performed at day 90. Group 1 remained untreated. Group 2 had an open surgery using suture of the defect. Groups 3 and 4 underwent defect coverage using a Gore®-polytetrafluoroethylene patch secured with surgical adhesive (Bioglue®), with an open approach (group 3) and a fetoscopic one (group 4). Lambs were killed at term, and histological examinations were performed. Fetoscopic patch coverage was achieved in all the lambs of group 4. All the fetuses of group 2 had a complete closure of the defect whereas only 38% in group 3 and 14% in group 4. Fetal loss rate seems to be lower in group 4 than in groups 2 and 3. Fetoscopic coverage of MMC defect can be performed using a sealed patch through a two-port access, but the patch and glue correction may not be the ideal technique to repair fetal MMC.
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- 2017
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18. Transfusions fœtales érythrocytaires : état des lieux sur 4 ans en France (2011–2014)
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A. Girault, Stéphanie Friszer, Emeline Maisonneuve, Jean-Marie Jouannic, Lucie Guilbaud, and A. Cortey
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03 medical and health sciences ,030219 obstetrics & reproductive medicine ,0302 clinical medicine ,Reproductive Medicine ,business.industry ,Obstetrics and Gynecology ,Medicine ,030212 general & internal medicine ,business ,Humanities - Abstract
Resume Objectifs L’objet de ce travail etait de realiser un etat des lieux des transfusions in utero (TIU) en France au sein des centres pluridisciplinaires de diagnostic prenatal (CPDPN) afin de mieux connaitre les pratiques francaises et d’etudier les indications transfusionnelles. Methodes Il s’agissait d’une etude descriptive nationale francaise portant sur la periode 2011–2014. Les donnees etaient obtenues grâce a un questionnaire rempli via courriel par l’ensemble des coordonnateurs des CPDPN francais. Resultats Parmi les 49 CPDPN, 18 centres (38 %) avaient effectue au moins une TIU avec un maillage correct du territoire metropolitain, a l’exception de la region aquitaine Pyrenees. Une moyenne de 204 TIU etaient realisees par an concernant 113 grossesses. Cinq centres representaient 68 % de l’activite nationale de TIU et un centre effectuait 40 % de l’activite francaise. La premiere cause d’anemie fœtale severe motivant une TIU etait l’incompatibilite fœto-maternelle erythrocytaire secondaire a une allo-immunisation maternelle (69 % des causes de TIU) principalement par allo-immunisation anti-RH1. La deuxieme cause correspondait aux infections materno-fœtales a parvovirus B19 (17 % des TIU). Conclusion L’activite nationale de TIU en France etait stable en nombre et repartition territoriale sur la periode d’etude. La mise en place d’un registre national pour cette activite semble necessaire pour permettre un suivi prospectif du nombre de grossesses concernees notamment pour suivre la prevalence des cas d’allo-immunisation RH1.
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- 2017
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19. Résultats préliminaires de l’étude PRIUM : programme de réparation in utero des myéloméningocèles
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Stéphanie Friszer, Véronique Forin, Lucie Guilbaud, F. Di Rocco, Jean-Marie Jouannic, Michel Zerah, A. Rigouzzo, Marie-Laure Moutard, Catherine Garel, and Ferdinand Dhombres
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Gynecology ,Pregnancy ,medicine.medical_specialty ,030219 obstetrics & reproductive medicine ,business.industry ,Fetal surgery ,medicine.medical_treatment ,Obstetrics and Gynecology ,Prenatal diagnosis ,General Medicine ,medicine.disease ,03 medical and health sciences ,0302 clinical medicine ,Reproductive Medicine ,medicine ,Young adult ,business ,Fetal therapy ,030217 neurology & neurosurgery - Abstract
Journal de Gynecologie Obstetrique et Biologie de la Reproduction - Vol. 45 - N° 7 - p. 738-744
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- 2016
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20. In utero treatment of severe fetal anemia resulting from fetomaternal red blood cell incompatibility: a comparison of simple transfusion and exchange transfusion
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Charles Garabedian, Anne Cortey, Thameur Rakza, Véronique Houfflin-Debarge, Bruno Carbonne, and Lucie Guilbaud
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Adult ,medicine.medical_specialty ,Anemia ,medicine.medical_treatment ,Exchange Transfusion, Whole Blood ,Blood Transfusion, Intrauterine ,Exchange transfusion ,03 medical and health sciences ,0302 clinical medicine ,Pregnancy ,030225 pediatrics ,Fetal hemoglobin ,medicine ,Humans ,Retrospective Studies ,030219 obstetrics & reproductive medicine ,Obstetrics ,business.industry ,Obstetrics and Gynecology ,Gestational age ,medicine.disease ,Surgery ,Fetal Diseases ,Red blood cell ,medicine.anatomical_structure ,Reproductive Medicine ,In utero ,Blood Group Incompatibility ,Female ,Hemoglobin ,business - Abstract
To compare in utero exchange transfusions (IUET) and in utero simple transfusions (IUST) for the treatment of fetal anemia resulting from red blood cell fetomaternal incompatibility.Retrospective comparative study from January 2006 through December 2011. The two techniques were compared for effectiveness, complications, and neonatal outcomes.36 patients had 87 IUETs and 85 patients 241 IUSTs. Gestational age at the first transfusion was similar in both groups (IUET: 27±3.8 weeks; IUST: 27±4.7 weeks; NS) as was the initial fetal hemoglobin level (IUET: 6.4±2.8g/dL; IUST: 6.0±2.5g/dL; NS). No significant differences were noted for postprocedure complications or efficacy. The daily drop in hemoglobin level was similar in both groups (IUET: 0.41±0.23g/dL/day; IUST: 0.44±0.17g/dL/day; NS) as were the time intervals between two procedures. Gestational age at birth was earlier in the IUET group (34.4±1.3 weeks vs 35.5±1.8 weeks; p0.001), but the postnatal transfusions or exchange transfusions rates and the duration of intensive phototherapy did not differ. No significant differences were noted for the overall survival rates (IUET: 100%; IUST: 96.4%; p0.99).IUET does not appear to provide any benefits compared with IUST, neither to be associated with a higher complication rate. The choice of the technique depends on availability of packed blood cells with high hematocrit (70-80%).
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- 2016
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21. Variable prenatal presentation of Pfeiffer syndrome: Suggested aids to prenatal sonographic diagnosis
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Catherine Garel, Souha Saliba, Baptiste Morel, Marie Gonzales, Marie Cassart, E. Blondiaux, Jean-Marie Jouannic, Marie-Victoire Senat, and Lucie Guilbaud
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musculoskeletal diseases ,0301 basic medicine ,Adult ,medicine.medical_specialty ,Acrocephalosyndactylia ,Prenatal diagnosis ,030105 genetics & heredity ,Ultrasonography, Prenatal ,Craniosynostosis ,03 medical and health sciences ,0302 clinical medicine ,Pregnancy ,Medicine ,Humans ,Genetics (clinical) ,Fetus ,030219 obstetrics & reproductive medicine ,business.industry ,Obstetrics and Gynecology ,medicine.disease ,body regions ,Pfeiffer syndrome ,Female ,Radiology ,Presentation (obstetrics) ,business ,Ventriculomegaly - Abstract
Background Our purpose was to describe and compare the cranial and extracranial abnormalities of Pfeiffer syndrome on prenatal imaging with postnatal or postmortem findings, which may help in prenatal diagnosis of Pfeiffer syndrome (PS). Methods Cases of fetuses with a confirmed diagnosis of PS over a 4-year period (2012-2016) were retrospectively reviewed. Prenatal imaging findings, postnatal, or postmortem investigations and genetic test results were analyzed. Results Four fetuses were ascertained, 3 with prenatal sonographic findings compatible with PS and one only diagnosed at postmortem. Cases were referred between 22 and 24 weeks' gestation. Three of the 4 cases were terminated, and details of postmortem/postnatal examination were available in all. There was variable presentation of features. Craniosynostosis was present in 3 cases, but only detected prenatally in 2. Extracranial signs included abnormalities of thumbs and/or big toes, detected prenatally in 3 of the 4 cases. A sacral appendage and vertebral or coronal clefts were present at postmortem in 3 cases but only detected prenatally in one. A cartilaginous tracheal sleeve was detected at postmortem in all 3 cases but not detected by prenatal ultrasound. Other findings included ventriculomegaly, posterior fossa, and facial anomalies. Molecular testing revealed mutations of the fibroblast growth factor receptor 2 (FGFR2) gene in all cases. Conclusion Pfeiffer syndrome has a highly variable phenotype, and the absence of craniosynostosis on prenatal US does not exclude the diagnosis. Presence of abnormal thumbs and big toes, a sacral appendage, vertebral fusions, and coronal clefts should lead to prenatal molecular testing for PS.
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- 2017
22. Two-Port Fetoscopic Repair of Myelomeningocele in Fetal Lambs
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Zoobia Shah, Stéphanie Friszer, Michel Zerah, Nathalie Roux, Jean-Marie Jouannic, Bettina Bessières, Lucie Guilbaud, Federico Di Rocco, Raphaël Vialle, Charles Garabedian, Ferdinand Dhombres, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Service de pédiatrie orthopédique [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de neurochirurgie pédiatrique [CHU Necker], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP]
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Embryology ,medicine.medical_specialty ,Meningomyelocele ,medicine.medical_treatment ,Gestational Age ,[SDV.MHEP.CHI]Life Sciences [q-bio]/Human health and pathology/Surgery ,03 medical and health sciences ,0302 clinical medicine ,Port (medical) ,Suture (anatomy) ,Pregnancy ,Medicine ,Animals ,Radiology, Nuclear Medicine and imaging ,030212 general & internal medicine ,Fetal loss ,Spina bifida ,Sheep, Domestic ,Fetal surgery ,Fetus ,[SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics ,030219 obstetrics & reproductive medicine ,business.industry ,Two-port fetoscopy ,Fetoscopy ,Suture Techniques ,Obstetrics and Gynecology ,Fetal lambs ,Insufflation ,General Medicine ,Carbon Dioxide ,medicine.disease ,Surgery ,Disease Models, Animal ,Pediatrics, Perinatology and Child Health ,Open repair ,Feasibility Studies ,[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] ,Female ,Myelomeningocele ,business ,Premature rupture of membranes ,Live Birth - Abstract
Objective: The aim of this study was to assess the feasibility and the effectiveness of a fetoscopic myelomeningocele (MMC) repair with a running single suture using a 2-port access in the sheep model. Methods: Eighteen fetuses underwent surgical creation of a MMC defect at day 75. Fetuses were then randomized into 3 groups. Four fetuses remained untreated (control group). In the other 14 fetuses, a prenatal repair was performed at day 90: 7 fetuses had an open repair (oMMC), and 7 fetuses had a fetoscopic repair (fMMC) using a single-layer running suture through a 2-port access. Lambs were sacrificed at term, and histological examinations were performed. Results: Hindbrain herniation was observed in all live lambs in the control group. A complete closure of the defect was achieved in all the lambs of the fMMC group. A complete healing of the defect and no hindbrain herniation were observed in all live lambs of the oMMC and fMMC groups. The durations of surgeries were not statistically different between the oMMC and the fMMC groups (60 vs. 53 min, p = 0.40), as was the risk of fetal loss (fMMC: 1/7, oMMC: 3/7, p = 0.56). Discussion: Fetoscopic repair of MMC can be performed using a single-layer running suture through a 2-port access and may be promising to reduce the risk of premature rupture of membranes.
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- 2017
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23. Towards ontology-based decision support systems for complex ultrasound diagnosis in obstetrics and gynecology
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Lucie Guilbaud, Nathalie Lelong, Stéphanie Friszer, Jean-Marie Jouannic, Davor Jurkovic, Ferdinand Dhombres, Paul Maurice, Jean Charlet, N. Perrot, E. Blondiaux, Eric Jauniaux, Babak Khoshnood, Charlet, Jean, Laboratoire d'Informatique Médicale et Ingénierie des Connaissances en e-Santé (LIMICS), and Université Paris 13 (UP13)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)
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medicine.medical_specialty ,Decision support system ,Ectopic pregnancy ,Knowledge Bases ,Expert Systems ,Ontology (information science) ,computer.software_genre ,Clinical decision support system ,Ultrasonography, Prenatal ,Diagnosis, Differential ,Knowledge base ,03 medical and health sciences ,0302 clinical medicine ,Obstetrics and gynaecology ,Pregnancy ,Image Interpretation, Computer-Assisted ,medicine ,Medical imaging ,Humans ,Medical physics ,030212 general & internal medicine ,Ultrasonography ,[INFO.INFO-BI] Computer Science [cs]/Bioinformatics [q-bio.QM] ,Internet ,030219 obstetrics & reproductive medicine ,Obstetrics ,business.industry ,Ontology ,Obstetrics and Gynecology ,Decision Support Systems, Clinical ,medicine.disease ,Expert system ,Pregnancy, Ectopic ,3. Good health ,Biological Ontologies ,Reproductive Medicine ,Gynecology ,Image annotations ,Female ,[INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM] ,business ,computer ,Ultrasound imaging - Abstract
Introduction We have developed a new knowledge base intelligent system for obstetrics and gynecology ultrasound imaging, based on an ontology and a reference image collection. This study evaluates the new system to support accurate annotations of ultrasound images. We have used the early ultrasound diagnosis of ectopic pregnancies as a model clinical issue. Material and methods The ectopic pregnancy ontology was derived from medical texts (4260 ultrasound reports of ectopic pregnancy from a specialist center in the UK and 2795 Pubmed abstracts indexed with the MeSH term “Pregnancy, Ectopic”) and the reference image collection was built on a selection from 106 publications. We conducted a retrospective analysis of the signs in 35 scans of ectopic pregnancy by six observers using the new system. Results The resulting ectopic pregnancy ontology consisted of 1395 terms, and 80 images were collected for the reference collection. The observers used the knowledge base intelligent system to provide a total of 1486 sign annotations. The precision, recall and F-measure for the annotations were 0.83, 0.62 and 0.71, respectively. The global proportion of agreement was 40.35% 95% CI [38.64–42.05]. Discussion The ontology-based intelligent system provides accurate annotations of ultrasound images and suggests that it may benefit non-expert operators. The precision rate is appropriate for accurate input of a computer-based clinical decision support and could be used to support medical imaging diagnosis of complex conditions in obstetrics and gynecology.
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- 2017
24. Suivi et traitement des allo-immunisations érythrocytaires en période prénatale
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Vanina Castaigne, V. Houfflin-Debarge, Emeline Maisonneuve, F. Pernot, Bruno Carbonne, C. Garabedian, and Lucie Guilbaud
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Gynecology ,medicine.medical_specialty ,business.industry ,General Earth and Planetary Sciences ,Medicine ,Allo immunisation ,business ,General Environmental Science - Abstract
Les allo-immunisations erythrocytaires restent la premiere cause d’anemie fœtale, pathologie rare, mais dont les consequences peuvent etre particulierement graves, a type d’anasarque fœtale, de lesions neurologiques fœtales hypoxiques et, au pire, de mort fœtale ou neonatale. Les incompatibilites RhD sont toujours les plus frequentes, suivies des incompatibilites Kell et petit c. La decouverte d’une anemie fœtale severe peut conduire a la realisation d’une transfusion fœtale intravasculaire en cas de terme precoce et/ou d’anasarque, a une extraction fœtale lorsque l’âge gestationnel est avance, compatible avec une prematurite moderee, et a une eventuelle transfusion fœtale intraperitoneale a des âges gestationnels tres precoces. Les transfusions fœtales intravasculaires ont transforme le pronostic de l’anemie fœtale et sont considerees aujourd’hui comme un geste relativement sur. Le risque de complication letale liee au geste est estime a pres de 3 %, ce qui reste important dans les cas d’anemie fœtale de survenue tres precoce, necessitant de repeter le geste transfusionnel jusqu’a cinq ou six fois au cours d’une meme grossesse. Le pronostic depend egalement en grande partie de la precocite du diagnostic d’anemie et de son traitement. Le risque de deces et de complications neurologiques fœtales est plus eleve lorsque le diagnostic est fait au stade d’anasarque qu’en cas d’anemie isolee.
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- 2013
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25. Students’ views on the impact of two pedagogical tools for the teaching of breast and pelvic examination techniques (video-clip and training model): a comparative study
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Thibault Thubert, Xavier Deffieux, Anne-Gaël Cordier, Sophie Nedellec, Michael Grynberg, F. Lamazou, and Lucie Guilbaud
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Adult ,Male ,Models, Anatomic ,medicine.medical_specialty ,Students, Medical ,Adolescent ,Attitude of Health Personnel ,education ,Combined use ,Video Recording ,Simulated patient ,Session (web analytics) ,Breast Diseases ,Young Adult ,Surveys and Questionnaires ,Breast examination ,Humans ,Medicine ,Pelvic examination ,Grade level ,Physician-Patient Relations ,Medical education ,Education, Medical ,medicine.diagnostic_test ,business.industry ,Obstetrics and Gynecology ,Satisfaction questionnaire ,Medical teaching ,Reproductive Medicine ,Physical therapy ,Female ,France ,Gynecological Examination ,business - Abstract
To investigate and compare the views and experience of undergraduate medical students concerning two methods used in the teaching of pelvic and breast examinations: a video clip and a training model.Following the teaching sessions, the students (n=79; female 67%; median age 20; students' grade level: 2nd study year (87%) and 3rd study year (13%)) completed a satisfaction questionnaire, which included items related to the pedagogical value of these two different types of tool.Most of the students ranked their own satisfaction in each teaching session as either very satisfied or satisfied: the median rating was 3 or 4 for each item. For their satisfaction with the pedagogical tools, in terms of the degree to which they contributed toward practical knowledge of the examination procedures, the students rated the video clip with a higher degree of satisfaction than the training model, for both breast (very satisfied 73% vs. 40%, satisfied 27% vs. 43%, unsatisfied 0% vs. 7% (P0.001)) and pelvic examinations (very satisfied 57% vs. 33%, satisfied 39% vs. 66%, unsatisfied 4% vs. 1% (P0.004), respectively.Teaching sessions for pelvic and breast examination, which make combined use of videos and training models, are associated with a high degree of satisfaction from students in their 2nd or 3rd student's year.
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- 2012
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26. Impact of oocyte donation on perinatal outcome in twin pregnancies
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Eva Studer, Pietro Santulli, François Goffinet, Vanessa Gayet, Camille Le Ray, and Lucie Guilbaud
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0302 clinical medicine ,Pre-Eclampsia ,Pregnancy ,Risk Factors ,Birth Weight ,Rupture of membranes ,030212 general & internal medicine ,reproductive and urinary physiology ,Academic Medical Centers ,030219 obstetrics & reproductive medicine ,Oocyte Donation ,Obstetrics ,Incidence (epidemiology) ,Confounding ,Obstetrics and Gynecology ,Middle Aged ,female genital diseases and pregnancy complications ,Gestational diabetes ,Treatment Outcome ,embryonic structures ,Premature Birth ,Gestation ,Female ,medicine.symptom ,Live Birth ,Infant, Premature ,Adult ,medicine.medical_specialty ,Adolescent ,Gestational Age ,Fertilization in Vitro ,Preeclampsia ,Young Adult ,03 medical and health sciences ,medicine ,Humans ,Perinatal Mortality ,Retrospective Studies ,Gynecology ,business.industry ,Postpartum Hemorrhage ,Infant, Newborn ,Retrospective cohort study ,Infant, Low Birth Weight ,Embryo Transfer ,medicine.disease ,Low birth weight ,Fertility ,Reproductive Medicine ,Infertility ,Pregnancy, Twin ,business - Abstract
Objective To compare perinatal outcomes of twin pregnancies after oocyte donation (OD), in vitro fertilization (IVF) with autologous oocyte (AO), and non-IVF conception. Design Five-year retrospective cohort study. Setting Tertiary university medical center. Patient(s) All patients with twin pregnancies who gave birth after 24 weeks of gestation. The outcomes of 102 OD twin pregnancies were compared with those of 201 AO and 369 non-IVF twin pregnancies. Intervention(s) None. Main Outcome Measure(s) Obstetrical complications (pregnancy-induced hypertensive disorders, gestational diabetes, cholestasis, preterm rupture of membranes, mode of delivery, and postpartum hemorrhage) and neonatal outcome (preterm birth, low birth weight, neonatal hospitalization, and perinatal mortality). Result(s) There was an increased incidence of preeclampsia (OD 26.5%, AO 7.0%, non-IVF 8.7%) and postpartum hemorrhage (OD 23.5%, AO 12.4%, non-IVF 7.6%) in the OD group compared with the AO and non-IVF groups. After adjustment for confounding factors, including maternal age and chorionicity, the risk of preeclampsia remained higher in the OD group, as did the risk of postpartum hemorrhage. The OD group was not at higher risk than the AO and non-IVF groups for other complications, particularly for preterm birth or low birth weight. Conclusion(s) OD twin pregnancies are associated with a higher risk of preeclampsia and postpartum hemorrhage than AO and non-IVF twin pregnancies.
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- 2017
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27. Stomach position versus liver-to-thoracic volume ratio in left-sided congenital diaphragmatic hernia
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Dorota Nowakowska, Mieke Cannie, Anne-Gaël Cordier, Marie-Victoire Senat, Alexandra Benachi, Lucie Guilbaud, Benjamin Viaris de Lesegno, C. Votino, Carlota Rodó, Jocelyne de Laveaucoupet, Malgorzata Milejska-Lewandowska, Jelena Martinovic, Jacques Jani, Supporting clinical sciences, Radiology, and Clinical sciences
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Hernias, Diaphragmatic, Congenital/classification ,Stomach/diagnostic imaging ,Gestational Age ,Thoracic Cavity ,Left sided ,Lung/diagnostic imaging ,Ultrasonography, Prenatal ,Fetus ,Prenatal Diagnosis/methods ,Pregnancy ,Prenatal Diagnosis ,medicine ,Humans ,Diaphragmatic hernia ,Lung ,Retrospective Studies ,Medicine(all) ,medicine.diagnostic_test ,business.industry ,Stomach ,Ultrasound ,Obstetrics and Gynecology ,Congenital diaphragmatic hernia ,Fetus/pathology ,Magnetic resonance imaging ,Anatomy ,Organ Size ,Liver/diagnostic imaging ,medicine.disease ,Magnetic Resonance Imaging ,Thoracic Cavity/diagnostic imaging ,medicine.anatomical_structure ,Liver ,Pediatrics, Perinatology and Child Health ,Female ,business ,Hernias, Diaphragmatic, Congenital - Abstract
OBJECTIVE: To describe a new grading method for stomach position (SP) in fetuses with left-sided congenital diaphragmatic hernia (L-CDH) using ultrasound and to correlate SP to liver position and to liver-to-thoracic cavity volume ratio (LiTR) using magnetic resonance imaging. METHODS: SP were graded at the level of the 4-chamber view as following: grade 1-to-4 for stomach not visualised, visualised anteriorly at the apex of the heart, stomach showing abdominal structures anteriorly and stomach with its larger part posterior to the level of the atrial-ventricular heart valves, respectively. The LiTR was calculated and correlated to SP using the Mann-Whitney U test. RESULTS: Seventy-four fetuses were included. Median LiTR for grade 1 SP was 0% and was not different from median LiTR for grade 2 SP (0%, p=NS). Median LiTR for grade 3 SP was 14.9% and was significantly higher than for grade 2 SP (p
- Published
- 2014
28. 836: Obstetric and perinatal outcomes of twin gestations after oocyte donation
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Camille Le Ray, Eva Studer, Lucie Guilbaud, Vanessa Gayet, François Goffinet, and Pietro Santulli
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medicine.medical_specialty ,Obstetrics ,business.industry ,Oocyte donation ,medicine ,Obstetrics and Gynecology ,Gestation ,business - Published
- 2015
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29. A challenging case of late-onset gastroschisis
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Catherine Garel, Lucie Guilbaud, J-M. Jouannic, F. Richard, J. Rosenblatt, E. Blondiaux, Frédéric Auber, and H. Ducou Le Pointe
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Pediatrics ,medicine.medical_specialty ,Pregnancy ,Radiological and Ultrasound Technology ,medicine.diagnostic_test ,business.industry ,Gastroschisis ,MEDLINE ,Obstetrics and Gynecology ,Magnetic resonance imaging ,Late onset ,General Medicine ,medicine.disease ,Text mining ,Reproductive Medicine ,Medicine ,Radiology, Nuclear Medicine and imaging ,Ultrasonography ,business - Published
- 2012
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30. 140: Management of fetal anemia in red-cell alloimmunization: comparison of intra uterine intravascular simple transfusion and exchange transfusion
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Charles Garabedian, V. Debarge, Bruno Carbonne, and Lucie Guilbaud
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medicine.medical_specialty ,Fetal anemia ,Red Cell ,Obstetrics ,business.industry ,medicine.medical_treatment ,medicine ,Obstetrics and Gynecology ,Exchange transfusion ,Intra uterine ,business - Published
- 2014
- Full Text
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