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1.
Am J Obstet Gynecol ; 226(2): 215-219, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34116039

RESUMO

The evolution of ultrasound and the introduction of 3- and 4-dimensional ultrasound techniques led to a shift in the perception and usage of ultrasound in fetal medicine. The biplane mode might help in multiple fetal procedures, including but not limited to basic intrauterine thoracocentesis, thoracoamniotic shunting, amnioreduction, amnioinfusion, cordocentesis, intraumbilical infusion, and umbilical cord coagulation, with a possible reduction in the complication rate. Despite its theoretical usefulness, more studies are required to assess the clinical importance of this technique.


Assuntos
Diagnóstico Pré-Natal/métodos , Ultrassonografia/métodos , Cordão Umbilical/diagnóstico por imagem , Cordocentese/métodos , Feminino , Humanos , Gravidez , Ultrassonografia Pré-Natal
2.
Prenat Diagn ; 42(5): 589-600, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35373843

RESUMO

INTRODUCTION: Raine syndrome is an autosomal recessive disorder characterized mainly by the presence of exophthalmos, choanal atresia or stenosis, osteosclerosis, and cerebral calcifications. There are around 50 cases described in the literature with a prevalence of less than 1/1,000,000. It is secondary to pathogenic variants in the FAM20 C gene, located on chromosome 7p22.3. CASE REPORT: We report a consanguineous family with three affected pregnancies. In the first two, exophthalmos and bone abnormalities were noted, ending in one intra-uterine demise and one neonatal death, without identifying any genetic disorder. During the couple's most recent pregnancy, fetal anomaly sonogram and fetal CT scan revealed microcephaly, intracranial calcifications, exophthalmos, hypertelorism, depressed nasal bridge, midface hypoplasia and thoracic hypoplasia. Fetal blood sampling for whole exome sequencing revealed a novel pathogenic homozygous variant c.1363+1G > A in the FAM20 C gene associated with Raine syndrome. Delivery occurred at 26 weeks of gestation after rupture of membranes followed by neonatal death due to respiratory failure. REVIEW: A review of the distinctive features of Raine syndrome, the contribution of different prenatal imaging modalities (Ultrasound, Computed Tomography and Magnetic Resonance Imaging) in making the diagnosis and the molecular characterization of this disorder is provided.


Assuntos
Calcinose , Exoftalmia , Morte Perinatal , Anormalidades Múltiplas , Caseína Quinase I/genética , Fissura Palatina , Proteínas da Matriz Extracelular/genética , Feminino , Humanos , Recém-Nascido , Microcefalia , Mutação , Osteosclerose , Gravidez
3.
BMC Pregnancy Childbirth ; 21(1): 242, 2021 03 22.
Artigo em Inglês | MEDLINE | ID: mdl-33752620

RESUMO

Twin-twin transfusion syndrome is a highly morbid condition that can affect parental attachment and depression risk. Studies addressing this rare condition are hard to conduct and thus lacking in the literature. In this letter to the editor, we acknowledge the article of Mackie et al. entitled "Parental attachment and depressive symptoms in pregnancies complicated by twin-twin transfusion syndrome: a cohort study" to be of high importance and impact, but would like to discuss the extent of its conclusions, and push towards bigger studies in this field.


Assuntos
Depressão , Transfusão Feto-Fetal , Estudos de Coortes , Feminino , Humanos , Pais , Gravidez
4.
J Gynecol Obstet Hum Reprod ; 50(4): 102044, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33346160

RESUMO

BACKGROUND: Informing couples about the diagnosis of severe fetal pathologies is part of the daily routine in fetal medicine. This situation is usually complex and can put untrained professionals in an uncomfortable position. The aim of this study was to assess the perception of health care professionals when faced with the need to announce a fetal pathology in order to target their training gaps in this domain. MATERIALS AND METHODS: A questionnaire was created and disseminated on a national level among physicians practicing or collaborating with the multidisciplinary centers of prenatal diagnosis in France. The questionnaire focused on the difficulties encountered by practitioners when announcing fetal pathologies, and their potential interest in simulation sessions regarding the delivery of bad news. RESULTS: 193 participants filled the questionnaire. 65 % report not receiving any theoretical courses in this field during their initial training, 49 % admit feeling uncomfortable when a fetal anomaly needs to be announced, 79.5 % think that role-play could help them, 87.5 % believe that training sessions in communication skills would help improve their methods and 73.1 % support teaching the delivery of bad news by simulation sessions. CONCLUSION: This survey illustrates the significance of announcing a fetal pathology for fetal medicine professionals. Many of them report not being properly trained to cope with this situation and would like to improve with a more practical way of teaching. Simulation would be the ideal educational tool to meet this demand.


Assuntos
Feto/anormalidades , Pesquisas sobre Atenção à Saúde/estatística & dados numéricos , Perinatologia/educação , Treinamento por Simulação , Revelação da Verdade , Adulto , Atitude do Pessoal de Saúde , França , Ginecologia/estatística & dados numéricos , Humanos , Pessoa de Meia-Idade , Obstetrícia/estatística & dados numéricos , Perinatologia/estatística & dados numéricos , Radiologia/estatística & dados numéricos , Desempenho de Papéis , Ultrassonografia Pré-Natal/estatística & dados numéricos
5.
Eur J Obstet Gynecol Reprod Biol ; 241: 104-108, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31493710

RESUMO

OBJECTIVE: The primary aim of this study is to compare the authorship in the Journal of Neurourology and Urodynamics (NAU) and the International Urogynecology Journal (IUJ) across two categories: country members of the Organization for Economic Co-operation and Development (OECD) and non-members of OECD (non-OECD). The secondary aim is to explore the obstacles in publishing in these two journals. STUDY DESIGN: NAU and IUJ articles between June 2014 and June 2018 were manually screened and divided into 2 categories depending on the country of affiliation of the corresponding author: OECD versus non-OECD. They were then divided into seven different types depending on the scope of the article. An online anonymous lime survey was then used to get the opinions of corresponding authors from non-OECD countries regarding obstacles to publishing. RESULTS: The OECD countries, representing 17.0% of the world population contributed to 85.4% of the 1885 articles evaluated, whereas only 14.6% originated from non-OECD countries. The distribution of the article types was comparable between the 2 groups. Out of 194 corresponding authors from non-OECD countries, 35 (18.7%) returned a completely filled survey that could be included in the analysis. Lack of funding, language barrier, and perceived bias were acknowledged as barriers to research and publishing. The majority of corresponding authors believed that international collaboration can improve the quality of research. CONCLUSIONS: The majority of NAU and IUJ articles originate from countries belonging to the OECD group. The uneven representation could be due to gaps in research activity, to obstacles in submission or both.


Assuntos
Autoria , Internacionalidade , Humanos , Distúrbios do Assoalho Pélvico , Incontinência Urinária
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