Publications by authors named "Jean-Michel Faure"
Article Synopsis
- * Conducted at Montpellier University Hospital, it involved 80 fetuses during third-trimester ultrasounds, confirming a normal vessel position in 96.2% of cases, with perfect agreement between prenatal and neonatal scans for 74 babies.
- * The findings suggest that prenatal ultrasound is effective for assessing SMA and SMV positions, and for cases of abnormal positioning, further imaging (like MRI) is recommended to check for potential intestinal malrotation.
Objective: To evaluate the postnatal outcome of children with antenatal colonic hyperechogenicity, currently considered as a sign of lysinuria-cystinuria, but which may also be a sign of other disorders with a more severe prognosis.
Method: We carried out a French multi-centric retrospective study via 15 Multidisciplinary Center for Prenatal Diagnosis from January 2011 to January 2021. We included pregnancies for which fetal colonic hyperechogenicity had been demonstrated.
Background: Lowe syndrome is a rare disease characterized by the association of congenital cataract, hypotonia, followed by global psychomotor delay and intellectual disability, as well as progressive renal dysfunction, and renal failure occurring at around 20 years of age.
Case Presentation: We discuss the case of a male fetus diagnosed with isolated bilateral cataract on the sonography performed at 21 + 5 weeks of gestation, confirmed by a fetal MRI at 23 weeks of gestation.After ruling out infectious etiologies, a genetic consult was conducted at 26 weeks of gestation, and an amniocentesis was realized to search for a chromosomal cause, Norrie's disease and Lowe syndrome by Sanger analysis.
Objectives: The antenatal phenotypic spectrum of Noonan Syndrome (NS) requires better characterization.
Methods: This multicenter retrospective observational included 16 fetuses with molecularly confirmed NS admitted for fetopathological examination between 2009 and 2016.
Results: Among 12 pathogenic variants (PV) in PTPN11 (80%), 5 (42%) fell between position c.
Background: The single median incisor is a rare dental abnormality that could be isolated or could be part of many different syndromes or syndromic association with poor prognosis.
Case Description: We report the first prenatal ultrasound description of a 31-year-old patient, gravida 1, para 0, whose male fetus was diagnosed at 25 weeks' gestation with a single median incisor suggestive of nasal pyriform aperture stenosis in Montpellier University Hospital (France). A fetal magnetic resonance imaging (MRI) performed at 30 weeks' gestation retrieved no intracranial midline cerebral anomalies and confirm nasal pyriform aperture stenosis suspicion.
Article Synopsis
- The study aimed to identify the prenatal ultrasound characteristics of cleft palate without cleft lip by using 3D imaging techniques.
- Conducted over seven years, the research involved analyzing fetal secondary palates through 2D and 3D ultrasound views and correlated the findings with postnatal examinations.
- The results showed a high agreement between prenatal diagnoses and postnatal evaluations, successfully categorizing cleft palate types and establishing effective diagnostic methods for prenatal identification.
Article Synopsis
- The study examined 4580 fetuses over a nine-year period to explore the clinical spectrum of genital defects diagnosed before birth and identify factors predicting severe phenotypes at birth.
- A total of 61 cases were analyzed, with a high prenatal diagnosis accuracy of 90.1%, mostly involving undervirilized boys (68.8%) and some virilized girls (11.5%).
- Key findings indicated that early second trimester detection, intra-uterine growth restriction, and penile curvature were linked to more severe cases, highlighting the importance of prenatal imaging for early intervention.
Objective: To assess specific, direct, and indirect prenatal ultrasound features in cases of fetal midgut volvulus.
Methods: Retrospective case series of neonatal volvulus, based on postnatal and prenatal imaging findings that occurred from 2006-2017. Prenatal and postnatal signs including the specific "whirlpool sign" were computed.
Introduction: When an orofacial cleft lip is discovered, precise characterization of this malformation is necessary, especially the extension of this cleft to the secondary palate. We aimed to develop and evaluate the feasibility/reproducibility of a score-based quality control for the visualization of the fetal hard palate during the second-trimester scan.
Material And Methods: All ultrasound images of fetal hard palate assessed routinely during second-trimester scan were retrospectively retrieved for a 6-month period.
Article Synopsis
- * Out of 5,450 cases of fetal anomalies, only 14 (0.3%) were diagnosed with splenic cysts, typically diagnosed around 30 weeks of gestation; most had a single cyst.
- * By 6 months post-birth, about 36% of the cysts had completely disappeared, and although some reduced in number, nearly half still persisted without causing any symptoms.
Objectives: The objectives of this study were to describe the methodology and to assess the feasibility of a simple 2D ultrasound technique to visualize the fetal hard palate (FHP) using a strict axial transverse view (ATV).
Methods: Prospective cohort of 100 singleton pregnancies, screened routinely during second trimester scans. Three operators imaged the FHP through a strict 2D ATV according to a simple methodology.
Unlabelled: PurposeBased on prenatal suspicion of the combination of radioulnar or radiohumeral synostosis and a peculiar shape of the skull suggestive of craniosynostosis, we report on six patients from four unrelated consanguineous families in whom Antley-Bixler syndrome was suspected during the prenatal period without mutation in genes known to be associated with the syndrome.MethodsMolecular diagnosis involved whole-exome and gene-panel sequencing.
Results: All sequenced patients showed a unique homozygous mutation of c.
Although some information exists on the stress response of horses in equestrian sports, the horse-rider team is much less well understood. In this study, salivary cortisol concentrations, heart rate (HR) and heart rate variability (HRV), SDRR (standard deviation of beat-to-beat interval) and RMSSD (root mean square of successive beat-to-beat intervals) were analysed in horses and their riders (n=6 each) at a public performance and an identical rehearsal that was not open to the public. Cortisol concentrations increased in both horses and riders (P<0.
View Article and Find Full Text PDFPrevalence and timing of pregnancy termination for brain malformations.
Arch Dis Child Fetal Neonatal Ed
September 2011
Article Synopsis
- The study aims to assess how often and when pregnancies are terminated due to specific types of central nervous system (CNS) malformations in a cohort of 481 cases from France between 2005 and 2009.
- About one-third of the terminations were linked to severe CNS issues, with earlier terminations predominantly for problems arising in the initial stages of CNS development, while later terminations were associated with specific anomalies like corpus callosum agenesis.
- The findings suggest that the prevalence and timing of terminations reflect both the developmental understanding of brain malformations and the influence of French prenatal screening policies.
Objectives: We wished to develop an ultrasound cephalometric analysis, particularly of the antero-posterior jaw relationship, to increase the accuracy of prenatal diagnosis of retrognathism during the routine midterm test.
Methods: Anatomical cephalometric analysis was performed in 18 formalin-fixed human fetuses (between 16 and 39 gestational weeks), and ultrasound cephalometry was prospectively carried out in 52 pregnant women (21 to 25 gestational weeks). The same landmarks were used in the anatomical and ultrasound median sagittal planes for comparison.
Objectives: To determine fetal features, which could lead to the diagnosis of Prader-Willi syndrome (PWS) during pregnancy.
Methods: We analyze the ultrasound features, genetic studies and pathologic findings in two cases of PWS diagnosed during pregnancy.
Results: In the first case, diminished fetal movement, polyhydramnios and oddly positioned hands and feet suggested PWS.
Objective: To determine the anatomy of the soft and hard palate during fetal growth in order to improve its ultrasonographic prenatal visualization.
Design: Anatomic study in human formalin-fixed fetus.
Methods: The heads of 18 second and third trimester fetuses were studied in the median sagittal plan.
Tonic immobility (TI) is an unlearned fear response induced by a brief physical restraint and characterized by a marked autonomic nervous system involvement. This experiment aimed at studying the relative involvement of both autonomic sub-systems, the sympathetic and parasympathetic nervous systems, during TI, by analyzing Heart Rate Variability. Quail selected genetically for long (LTI) or short (STI) TI duration and quail from a control line (CTI) were used.
View Article and Find Full Text PDFArticle Synopsis
- - The report aims to assess a new three-dimensional ultrasound method for identifying issues with the fetal palate, specifically in cases of incomplete cleft palate.
- - Using this technique, the fetal palate of a patient with a known cleft palate condition was analyzed at 34 weeks of pregnancy, and the results were compared with postnatal observations.
- - The findings suggest that this ultrasound approach effectively reveals the complete hard palate, highlighting its potential for improving prenatal diagnoses and leading to better surgical planning for cleft palate conditions.
Correlated response in yolk testosterone levels following divergent genetic selection for social behaviour in Japanese quail.
J Exp Zool A Ecol Genet Physiol
February 2007
Maternal effects are a powerful tool that parents can use to modify the phenotype of their offspring. In birds, the amount of androgens that females deposit in their eggs has been shown to influence early development and adult behavioural phenotypes. Differences in such behavioural strategies have been used as the target of artificial selection programmes with a view to improve animal welfare.
View Article and Find Full Text PDFThe quail is a valuable farm and laboratory animal. Yet molecular information about this species remains scarce. We present here the first genetic linkage map of the Japanese quail.
View Article and Find Full Text PDFObjective: To define the diagnostic and therapeutic value of foetal urine sampling (FUS).
Material And Method: Between 1996 and 2001, FUS was performed in 16 patients for three indications: assessment of renal function (Group 1, n = 12), diagnosis of a cystic mass (Group 2, n = 2), prevention of dystocia (Group 3, n = 2). The anomaly was detected by ultrasound.