Publications by authors named "Cecile Guenot"

Article Synopsis
  • * Diagnostic protocols for increased nuchal translucency include rapid tests for aneuploidy, cytogenetic analysis, and in some cases, whole exome sequencing (WES), though its role in isolated cases is still debated.
  • * In a study involving two euploid fetuses with isolated increased nuchal translucency, whole genome sequencing revealed variants in the NUP107 gene linked to severe nephrotic syndrome, highlighting the importance of advanced genetic testing
View Article and Find Full Text PDF

Background: Cytomegalovirus is responsible for the most common congenital infection, affecting 0.5% to 1.0% of live births in Europe.

View Article and Find Full Text PDF

Venous thromboembolism is a leading cause of maternal morbidity and mortality with an overall incidence of 1-2 cases per 1000 pregnancies. The purpose of this article is to summarize more recent recommendations for the management of venous thromboembolism during pregnancy and post-partum period.

View Article and Find Full Text PDF

Background: Placental mesenchymal dysplasia (PMD) is a rare vascular and connective placental anomaly, which is often associated with severe fetal and/or maternal complications. The diversity of presentation of PMD challenges diagnosis and effective pregnancy management.

Objective: We aimed to review cases presenting at 7 tertiary centers worldwide over the last decade and to study the occurrence of obstetric and neonatal complications.

View Article and Find Full Text PDF

Nausea and vomiting in early pregnancy is a common condition at risk to be minimized by women or care providers. If not treated in the early stages, it can evolve to a severe condition with a morbidity risk for the mother and/or the fetus, and expose to public health consequences. Severe forms of nausea and vomiting and hyperemesis gravidarum are a clinical diagnosis with nonspecific manifestations in addition to biologic and metabolic consequences for mother and/or child.

View Article and Find Full Text PDF

Twin anemia-polycythemia sequence (TAPS) is a rare condition in monochorionic twin pregnancies. Small intertwin placental vascular communications allow transfusion, which results in a hemoglobin difference in the twins in the absence of oligohydramnios or polyhydramnios. We report here a case of TAPS diagnosed at 17 weeks' gestation in an obese patient (BMI 42) with a whole anterior placenta.

View Article and Find Full Text PDF

Copy-number variants (CNVs) represent a significant interpretative challenge, given that each CNV typically affects the dosage of multiple genes. Here we report on five individuals with coloboma, microcephaly, developmental delay, short stature, and craniofacial, cardiac, and renal defects who harbor overlapping microdeletions on 8q24.3.

View Article and Find Full Text PDF

Cavernous hepatic haemangioma is the most frequent benign liver tumour, but the giant pedunculated form is rare because only 17 cases have been described in the literature. We report our experience of one case, and compare it to the 17 other described cases. Age, incidence and size of the lesion were the same as results in the literature.

View Article and Find Full Text PDF

Intestinal involvement during Behçet's disease (entero-Behçet) is rare in Europe (<1%). We report the case of a 33-year-old Chad woman with Behçet's disease revealed by recurrent anal abscess and cecal perforation. We discuss the diagnosis of this atypical presentation and the different therapeutic strategies in severe attacks of Behçet's disease.

View Article and Find Full Text PDF