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1.
Am J Hum Genet ; 111(5): 913-926, 2024 05 02.
Artigo em Inglês | MEDLINE | ID: mdl-38626762

RESUMO

Expanded CAG repeats in coding regions of different genes are the most common cause of dominantly inherited spinocerebellar ataxias (SCAs). These repeats are unstable through the germline, and larger repeats lead to earlier onset. We measured somatic expansion in blood samples collected from 30 SCA1, 50 SCA2, 74 SCA3, and 30 SCA7 individuals over a mean interval of 8.5 years, along with postmortem tissues and fetal tissues from SCA1, SCA3, and SCA7 individuals to examine somatic expansion at different stages of life. We showed that somatic mosaicism in the blood increases over time. Expansion levels are significantly different among SCAs and correlate with CAG repeat lengths. The level of expansion is greater in individuals with SCA7 who manifest disease compared to that of those who do not yet display symptoms. Brain tissues from SCA individuals have larger expansions compared to the blood. The cerebellum has the lowest mosaicism among the studied brain regions, along with a high expression of ATXNs and DNA repair genes. This was the opposite in cortices, with the highest mosaicism and lower expression of ATXNs and DNA repair genes. Fetal cortices did not show repeat instability. This study shows that CAG repeats are increasingly unstable during life in the blood and the brain of SCA individuals, with gene- and tissue-specific patterns.


Assuntos
Mosaicismo , Ataxias Espinocerebelares , Expansão das Repetições de Trinucleotídeos , Humanos , Ataxias Espinocerebelares/genética , Expansão das Repetições de Trinucleotídeos/genética , Feminino , Masculino , Adulto , Pessoa de Meia-Idade , Cerebelo/metabolismo , Cerebelo/patologia , Idoso , Encéfalo/metabolismo , Encéfalo/patologia , Ataxina-1/genética
2.
BMC Pregnancy Childbirth ; 23(1): 83, 2023 Jan 31.
Artigo em Inglês | MEDLINE | ID: mdl-36721113

RESUMO

BACKGROUND: The COVID-19 pandemic and the resulting lockdowns triggered social discontent on an unprecedented scale. Descriptive phenomenological studies showed that pregnant women were under intense stress during the COVID-19 outbreak, even though they remained uninfected. The purpose of this study was to report on the experiences of pregnant women affected by mild COVID-19 during the first wave of the pandemic. METHODS: In this non- interventional qualitative study, we analyzed pregnant women's experiences using an interpretive phenomenological analysis approach. We conducted semi-structured interviews with women who had had a mild COVID-19 during their pregnancy, and gave birth or planned to give birth in the maternity units of Sorbonne University in Paris, France. RESULTS: Participants reported that at the time they had COVID-19, they were not afraid of being seriously ill, but of transmitting COVID-19 to their close relatives. Their main concern was being pregnant and becoming a parent in a world where the pandemic deeply altered social environment. This included uncertainty about the future and an acute feeling of isolation related to lockdown. The idea that their partner might not be allowed to attend childbirth was almost unanimously felt as intolerable. In contrast, women had positive feelings regarding the fact that lockdown resulted in a de facto paternity leave leading to a certain degree of equality in the couple regarding baby care and household chores. Unexpectedly, the pandemic social distancing measures helped participants escaping from behavioral constraints, including the unspoken rule that they should welcome greetings from friends and family, despite being exhausted by the recent birth. CONCLUSIONS: Our results suggest that avoiding separation from their partner is a key to benevolent medical care for pregnant women in times of health crises. The unexpected benefits women reported in a world of lockdown cast a new light on their expectation regarding parenthood today.


Assuntos
COVID-19 , SARS-CoV-2 , Gravidez , Lactente , Feminino , Humanos , Paris/epidemiologia , Gestantes , Pandemias , Controle de Doenças Transmissíveis , Período Pós-Parto
3.
Acta Obstet Gynecol Scand ; 101(4): 471-478, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35338480

RESUMO

INTRODUCTION: The aim of the study was to identify the obstetric risk factors for hypoxic-ischemic encephalopathy (HIE) in infants with asphyxia at birth. MATERIAL AND METHODS: This multicenter case-control study covered the 5-year period from 2014 through 2018 and included newborns ≥36 weeks of gestation with an umbilical pH at birth ≤7.0. Cases were newborns who developed moderate or severe HIE; they were matched with controls with pH ≤7.0 at birth over the same period without moderate or severe HIE. The factors studied were maternal, gestational, intrapartum, delivery-related, and neonatal characteristics. A multivariable analysis was performed to study the maternal, obstetric, and neonatal factors independently associated with moderate or severe HIE. RESULTS: Our review of the records identified 41 cases and 98 controls. Compared with controls, children with moderate or severe HIE had a lower 5-min Apgar score, lower umbilical artery pH, and higher cord lactate levels at birth and at 1 h of life. Obstetric factors associated with moderate or severe HIE were the occurrence of an acute event (adjusted odds ratio [aOR] 6.4; 95% confidence interval [CI] 1.8-22.5), maternal fever (aOR 3.5; 95% CI 1.0-11.9), and thick meconium during labor (aOR 2.9; 95% CI 1.0-8.6). CONCLUSIONS: HIE is associated with a lower 5-min Apgar score and with the severity of acidosis at birth and at 1 h of life. In newborns with a pH <7.0 at birth, the occurrence of an acute obstetric event, maternal fever, and thick meconium are independent factors associated with moderate or severe HIE.


Assuntos
Acidose , Asfixia Neonatal , Hipóxia-Isquemia Encefálica , Acidose/epidemiologia , Acidose/etiologia , Índice de Apgar , Asfixia Neonatal/complicações , Asfixia Neonatal/epidemiologia , Estudos de Casos e Controles , Criança , Feminino , Humanos , Hipóxia-Isquemia Encefálica/complicações , Hipóxia-Isquemia Encefálica/epidemiologia , Lactente , Recém-Nascido , Gravidez , Fatores de Risco
4.
Acta Paediatr ; 111(3): 576-583, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-34837273

RESUMO

AIM: Birth asphyxia can lead to organ dysfunction, varying from isolated biological acidosis to hypoxic-ischemic encephalopathy (HIE). Pathophysiology of moderate or severe HIE is now well known and guidelines exist regarding the care required in this situation. However, for newborns without moderate or severe HIE, no consensus is available. Our objective was to describe the immediate neonatal consequences and need for care of asphyxiated newborns without moderate or severe HIE. METHODS: Multicentre retrospective study from January 2015 to December 2017 in two academic centres, including neonates ≥37 gestational weeks with pathological foetal acidemia (umbilical arterial pH<7.00 and/or lactate≥10 mmol/L). RESULTS: Among 18 550 births, 161 (0.9%) had pathological foetal acidemia. 142 (88.0%) were not diagnosed with moderate or severe HIE. Among them, 82 (58.0%) were hospitalised. 13 (9.0%) had respiratory failure and required nutritional support. 100 (70.0%) underwent blood sampling, which showed at least one biological anomaly in 66 (66.0%) of cases. CONCLUSION: Newborns born with pathological foetal acidemia without the occurrence of moderate or severe HIE had metabolic disorders and could need organ support. A prospective study describing this vulnerable population would help to establish consensus guidelines for the management of this population.


Assuntos
Acidose , Asfixia Neonatal , Hipóxia-Isquemia Encefálica , Acidose/etiologia , Acidose/terapia , Asfixia Neonatal/complicações , Asfixia Neonatal/diagnóstico , Asfixia Neonatal/terapia , Feminino , Humanos , Hipóxia-Isquemia Encefálica/terapia , Recém-Nascido , Gravidez , Estudos Prospectivos , Estudos Retrospectivos
5.
Eur J Clin Microbiol Infect Dis ; 39(5): 999-1002, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-31955353

RESUMO

The etiologies of undifferentiated fever in pregnant women have not been studied thoroughly. Because of its non-specific presentation but severe prognosis, listeriosis is often suspected in this setting, but in most cases not confirmed. We studied the causes of undifferentiated fever in pregnant women who received preemptive listeriosis treatment. We conducted from November 1, 2011, to June 30, 2013, a prospective multicentric observational cohort study of pregnant women referred to obstetrical wards with undifferentiated fever and who received listeriosis preemptive treatment. Clinical and biological features, treatment, outcome, and final diagnosis were collected. We enrolled 103 febrile pregnant women. A cause was identified in 77/103 (75%): viral infection in 52/103 (50%, influenza in 21 (20%)), bacterial infection in 22 (21%, including 16 pyelonephritis (16%) and 3 pneumonias (3%)), and TORCH infection in 3 (3%, varicella, toxoplasmosis, and cytomegalovirus primo-infections, n=1, each). Viral infections collected during influenza outbreaks (December-March) accounted for 43/57 (75%) cases. Two fetal losses were reported in the context of febrile pneumonia. Final diagnoses required adapting medical care in 46/77 (60%) of cases, for bacterial, influenza, or TORCH infections. A large array of benign to potentially severe infections manifests as acute undifferentiated fever in pregnant women, requiring careful repeated evaluation.


Assuntos
Febre/classificação , Febre/etiologia , Complicações Infecciosas na Gravidez/diagnóstico , Adulto , Infecções Bacterianas/complicações , Infecções Bacterianas/diagnóstico , Surtos de Doenças , Feminino , França , Humanos , Listeriose/prevenção & controle , Gravidez , Complicações Infecciosas na Gravidez/microbiologia , Complicações Infecciosas na Gravidez/virologia , Gestantes , Estudos Prospectivos , Viroses/complicações , Viroses/diagnóstico
6.
Prenat Diagn ; 40(13): 1741-1752, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32506432

RESUMO

OBJECTIVE: To describe the lesions detected by prenatal ultrasound examination in congenital toxoplasmosis (CT). METHODS: We retrospectively analyzed all cases of fetal infection with Toxoplasma gondii with ultrasound anomalies described by fetal medicine experts in 2009 to 2019 in 30 French centers. RESULTS: Eighty-eight cases of CT were included. Forty-five (51.1%) had one or more cerebral signs only, 35 (39.8%) had cerebral plus extracerebral signs and 8 (9.1%) had extracerebral signs only. The main cerebral signs were intracranial hyperechogenic nodular foci (n = 60) of which 20 were isolated, ventriculomegalies (n = 44) which generally increased during follow-up, and periventricular abscesses (n = 12). The main extracerebral signs were hepatomegaly and/or splenomegaly (n = 14), small for gestational age (n = 14), ascites (n = 14, including 2 with hydrops), and hyperechogenic bowel (n = 11). Maternal infection occurred mostly in the first or second trimester (81 cases), periconceptionally in one and in the third trimester in six cases. The first ultrasound signs were detected after a median of 7 weeks (range: 1.4; 24.0) following maternal toxoplasmosis seroconversion. CONCLUSION: While no sign was specific of CT, there were typical associations of cerebral signs with or without extracerebral signs. Detailed ultrasound examination could improve prognostic evaluation, as well as diagnosis of CT in settings lacking serological screening.


Assuntos
Doenças Fetais/diagnóstico por imagem , Complicações Infecciosas na Gravidez/diagnóstico por imagem , Toxoplasmose Congênita/diagnóstico por imagem , Ultrassonografia Pré-Natal , Feminino , Humanos , Gravidez , Estudos Retrospectivos
7.
Prenat Diagn ; 38(2): 106-109, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29231978

RESUMO

OBJECTIVE: To assess the distribution of nuchal translucency (NT) measurements following a national policy without credentialing and its impact on first-trimester Down syndrome screening (DSS) detection rate. METHOD: All first-trimester DSS data recorded in France (2010-2014) were collected by the laboratories in charge via an Internet database (https://www.bionuqual.org/echo.php). There was no minimal requirement for image quality to allow sonographers to enter the screening process. A subgroup of DSS with complete DS follow-up corresponded to 1614 sonographers. Based on the distribution of maternal age, DS detection rate was calculated and split as a function of the distribution of NT multiple of the median (MoM). RESULTS: Four thousand nine hundred forty-three sonographers performed 2,337,372 NT measurements. Median NT expressed in MoM was 0.83. Screenings with complete follow-up consisted of 197,417 screenings, in which DSS detection rates were respectively 70.4%, 70.9%, 79.4%, 87.7%, and 79.5% for the following median NT MoM ranges: <0.7, 0.70 to 0.79, 0.80 to 0.89, 0.90 to 0.99, and >0.99 (trend χ = 12.21; P = .0158). CONCLUSION: In France, following a policy of quality assessment without standardized credentialing, the distribution of NT measurements did not fit the expected distribution. Down syndrome detection rate was 10% lower in screenings by sonographers with a median NT < 0.80 MoM.


Assuntos
Síndrome de Down/diagnóstico por imagem , Medição da Translucência Nucal/métodos , Adulto , Feminino , França , Humanos , Idade Materna , Medição da Translucência Nucal/estatística & dados numéricos , Gravidez , Primeiro Trimestre da Gravidez , Garantia da Qualidade dos Cuidados de Saúde
8.
Sante Publique ; 30(1 Suppl): 89-97, 2018.
Artigo em Francês | MEDLINE | ID: mdl-30547491

RESUMO

The perinatal period is one of the most critical periods in the life cycle. The health of the mother and child are strongly and permanently influenced by events occurring during pregnancy, delivery or early infancy. In psychological terms, nearly 10% of women reported poor self-rated mental health during pregnancy. Moreover, sociodemographic characteristics indicative of social disadvantage are associated with a higher risk of poor self-rated mental health. 81.3% of these women did not consult a healthcare professional for psychological problems. The well-being project is designed to optimise the care of pregnant women with psychological or socioeconomic vulnerabilities and to assess the value of an early prenatal interview.


Assuntos
Transtornos Mentais/diagnóstico , Saúde Mental , Complicações na Gravidez/diagnóstico , Cuidado Pré-Natal , Feminino , Promoção da Saúde , Humanos , Gravidez , Complicações na Gravidez/psicologia , Reprodutibilidade dos Testes
9.
J Hepatol ; 2017 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-28939132

RESUMO

Inborn urea cycle disorders are under-recognised metabolic causes of hyperammonemia in adults. A 28-year-old primigravida, seven weeks pregnant, affected by hyperemesis gravidarum developed acute liver injury (ALI) and then acute liver failure (ALF) in less than 48 h. Because the patient developed atypical features, especially mildly elevated aminotransferases contrasting with very high blood ammonia levels (281 µmol/L), concomitant with normal serum creatinine, an inborn error of metabolism was suspected. We performed emergency metabolic analyses, stopped all protein intake and started with intravenous (i.v.) high caloric intake, nitrogen scavenger drugs and haemodialysis. The neurological and hepatic status of the patient quickly improved together with normalisation of her ammonemia levels. High plasma glutamine and urinary orotic acid, alongside low plasma arginine, citrulline and ornithine were suggestive of an ornithine transcarbamylase deficiency, later confirmed by molecular analyses. Foetal sex was female, as determined by foetal DNA analysis in maternal blood, and foetal development was unremarkable throughout the pregnancy. Delivery was induced at 39 weeks with a close monitoring of ammonemia levels and i.v. perfusion of carbohydrates and lipids during labour and immediately post-partum to avoid hypercatabolism. Delivery was uneventful and the patient delivered a healthy female baby. Urea cycle disorders should be contemplated in non-jaundiced patients with ALI or ALF, severe hyperammonemia and normal serum creatinine regardless of serum aminotransferase levels. The prompt recognition of this rare condition and the rapid initiation of adequate metabolic therapy are mandatory to prevent irreversible neurological sequelae and to avoid liver transplantation.

10.
Prenat Diagn ; 35(4): 382-5, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25640941

RESUMO

OBJECTIVE: To determine insonation angles achieved in routine screening practice and their impact on image quality. METHODS: Prospective cross-sectional observational survey of 2866 four-chamber views produced by 287 senor ultrasonographers, from unselected routine second-trimester screening scans. Images were scored from 0 to 5 according to whether two atria, two ventricles, the heart crux, the apex, and the descending aorta were seen. Images were considered adequate if two atria, two ventricles, and the heart crux were seen. The insonation angle was classified as apical, basal, or lateral according to the orientation of the fetal heart to the ultrasound beam. RESULTS: There were 1612 (56.3%) apical, 869 (30.3%) basal, and 385 (13.4%) lateral views. The mean score and the rate of adequate images were significantly greater in the apical group (4.56 and 81.8%) than in the basal group (4.19 and 71.1 %) and were significantly greater in the basal group than in the lateral one (3.6 and 30.9%), p < 0.001. Angle of insonation and image quality were not correlated with the experience of the operator. CONCLUSIONS: Adequate four-chamber view images are best obtained with an apical or basal insonation angle, which could be achieved in 8 out of 10 scans. © 2015 John Wiley & Sons, Ltd.


Assuntos
Coração Fetal/diagnóstico por imagem , Interpretação de Imagem Assistida por Computador/métodos , Ultrassonografia Pré-Natal/métodos , Estudos Transversais , Feminino , Inquéritos Epidemiológicos , Humanos , Gravidez , Segundo Trimestre da Gravidez , Estudos Prospectivos
11.
J Ultrasound Med ; 34(9): 1663-7, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26283753

RESUMO

OBJECTIVES: To compare the impact of virtual reality simulation training and theoretical teaching on the ability of inexperienced trainees to produce adequate virtual transvaginal ultrasound images. METHODS: We conducted a randomized controlled trial with parallel groups. Participants included inexperienced residents starting a training program in Paris. The intervention consisted of 40 minutes of virtual reality simulation training using a haptic transvaginal simulator versus 40 minutes of conventional teaching including a conference with slides and videos and answers to the students' questions. The outcome was a 19-point image quality score calculated from a set of 4 images (sagittal and coronal views of the uterus and left and right ovaries) produced by trainees immediately after the intervention, using the same simulator on which a new virtual patient had been uploaded. Experts assessed the outcome on stored images, presented in a random order, 2 months after the trial was completed. They were blinded to group assignment. The hypothesis was an improved outcome in the intervention group. Randomization was 1 to 1. RESULTS: The mean score was significantly greater in the simulation group (n = 16; mean score, 12; SEM, 0.8) than the control group (n = 18; mean score, 9; SEM, 1.0; P= .0302). CONCLUSIONS: The quality of virtual vaginal images produced by inexperienced trainees was greater immediately after a single virtual reality simulation training session than after a single theoretical teaching session.


Assuntos
Instrução por Computador/estatística & dados numéricos , Ginecologia/educação , Internato e Residência/estatística & dados numéricos , Treinamento por Simulação/estatística & dados numéricos , Ultrassonografia , Interface Usuário-Computador , Competência Clínica , Instrução por Computador/métodos , Currículo , Avaliação Educacional , Feminino , França , Humanos , Masculino , Variações Dependentes do Observador , Radiologia/educação , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Treinamento por Simulação/métodos , Adulto Jovem
13.
Arthritis Rheum ; 65(9): 2450-6, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23780828

RESUMO

OBJECTIVE: To describe the interplay between Behçet's disease (BD) and pregnancy. METHODS: This retrospective study included 76 pregnancies in 46 patients fulfilling the international criteria for BD. The median age of the patients at the time of entry into the study was 28.4 years (interquartile range 22.8-30.9 years). Patients were used as their own historical controls to assess the incidence of BD flares during pregnancy and before or after pregnancy. Factors associated with the occurrence of complications during pregnancy were assessed. RESULTS: Among the 76 pregnancies with BD analyzed, 27 (35.5%) were associated with worsening of the symptoms of BD flare; oral and genital ulcerations (78.4% and 67.6%, respectively) as well as ocular complications (32.4%) were the most frequent. The mean ± SD annual rates of BD flares were 0.49 ± 0.72 during pregnancy and 1.46 ± 2.42 during the nonobstetric period (P = 0.018). The proportion of BD flares tended to be lower in patients treated with colchicine (27.9% versus 45.4% of patients not treated with colchicine; P = 0.11). The overall rate of complications during pregnancy was 15.8%. The complications included miscarriage (5 patients), cesarean delivery (3 patients), medical termination of pregnancy (2 patients), hemolysis, elevated liver enzymes, and low platelets syndrome (1 patient), and immune thrombocytopenia (1 patient). There was a statistically significant association between a history of deep vein thrombosis in BD and the risk of obstetric complications (odds ratio 7.25, 95% confidence interval 1.21-43.46, P = 0.029). Neither gestational age at delivery nor neonatal outcome was influenced by BD. CONCLUSION: The disease course in BD seems to improve during pregnancy, mostly in patients who are treated with colchicine. Pregnancy in patients with BD appears not to be associated with an increased rate of pregnancy-related complications.


Assuntos
Síndrome de Behçet/epidemiologia , Complicações na Gravidez/epidemiologia , Adulto , Síndrome de Behçet/diagnóstico , Feminino , Idade Gestacional , Humanos , Incidência , Gravidez , Complicações na Gravidez/diagnóstico , Prevalência , Estudos Retrospectivos , Índice de Gravidade de Doença
14.
ESC Heart Fail ; 11(3): 1506-1514, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38361389

RESUMO

AIMS: Inherited cardiomyopathies are relatively rare but carry a high risk of cardiac maternal morbidity and mortality during pregnancy and postpartum. However, data for risk stratification are scarce. The new CARPREG II score improves prediction of prognosis in pregnancies associated with heart disease, though its role in inherited cardiomyopathies is unclear. We aim to describe characteristics and cardiac maternal outcomes in patients with inherited cardiomyopathy during pregnancy, and to evaluate the interest of the CARPREG II risk score in this population. METHODS AND RESULTS: In this retrospective single-centre study, 90 consecutive pregnancies in 74 patients were included (mean age 32 ± 5 years), including 28 cases of dilated cardiomyopathy (DCM), 46 of hypertrophic cardiomyopathy, 11 of arrhythmogenic right ventricular cardiomyopathy and 5 of left ventricular noncompaction, excluding peripartum cardiomyopathy. The discriminatory power of several risk scores was assessed by the area under the receiver-operating characteristic curve (AUC). Median CARPREG II score was 2 [0;3] and was higher in the DCM subgroup. A severe cardiac maternal complication was observed in 18 (20%) pregnancies, mainly driven by arrhythmia and heart failure (each event in 10 pregnancies), with 3 cardiovascular deaths. Forty-three pregnancies (48%) presented foetal/neonatal complications (18 premature delivery, 3 foetal/neonatal death). CARPREG II was significantly associated with cardiac maternal complications (P < 0.05 for all) and showed a higher AUC (0.782) than CARPREG (0.755), mWHO (0.697) and ZAHARA (0.604). CONCLUSIONS: Pregnancy in women with inherited cardiomyopathy carries a high risk of maternal cardiovascular complications. CARPREG II is the most efficient predictor of cardiovascular complications in this population.


Assuntos
Cardiomiopatias , Complicações Cardiovasculares na Gravidez , Resultado da Gravidez , Humanos , Feminino , Gravidez , Adulto , Estudos Retrospectivos , Complicações Cardiovasculares na Gravidez/epidemiologia , Cardiomiopatias/complicações , Cardiomiopatias/diagnóstico , Medição de Risco/métodos , Resultado da Gravidez/epidemiologia , Prognóstico , Fatores de Risco , Seguimentos
15.
J Gynecol Obstet Hum Reprod ; 53(6): 102764, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38492667

RESUMO

BACKGROUND: SARS-CoV-2 infection on pregnant women was the subject of many questions since the COVID-19 pandemic. METHODS: We aim to assess maternal and neonatal outcomes of SARS-CoV-2 infection contracted during 2nd and 3rd trimesters of pregnancy during the first two COVID-19 waves across a prospective French multicenter cohort study. Patients were included between April 2020 and January 2021 in 10 maternity hospitals in Paris area with two groups (i) pregnant women with a positive SARS-CoV-2 nasopharyngeal RT-PCR between [14WG; 37WG[(symptomatic infection), (ii) pregnant women with a negative serology (or equivocal) at delivery and without a positive SARS-CoV-2 nasopharyngeal RT-PCR at any time during pregnancy (G2 group) MAIN FINDINGS: 2410 pregnant women were included, of whom 310 had a positive SARS-CoV-2 nasopharyngeal RT-PCR and 217 between [14WG; 37WG[. Most infections occurred between 28 and 37 weeks of gestation (56 %). Most patients could be managed as outpatients, while 23 % had to be hospitalized. Among women with a positive RT-PCR, multiparous women were over-represented (OR = 2.45[1.52;3.87]); were more likely to deliver before 37 weeks of gestation (OR = 2.19[1.44;3.24]) and overall cesarean deliveries were significantly increased (OR = 1.53[1.09;2.13]). CONCLUSIONS: This study highlights the maternal, obstetrical, and neonatal burden associated with SARS-CoV-2 infections during the first two pandemic waves before availability of vaccines. TRIAL REGISTRATION: NCT04355234 (registration date: 21/04/2020).


Assuntos
COVID-19 , Complicações Infecciosas na Gravidez , Resultado da Gravidez , SARS-CoV-2 , Humanos , Feminino , COVID-19/epidemiologia , Gravidez , Complicações Infecciosas na Gravidez/epidemiologia , Adulto , Estudos Prospectivos , Recém-Nascido , França/epidemiologia , Resultado da Gravidez/epidemiologia , Estudos de Coortes , Teste de Ácido Nucleico para COVID-19/estatística & dados numéricos , Transmissão Vertical de Doenças Infecciosas/estatística & dados numéricos , Transmissão Vertical de Doenças Infecciosas/prevenção & controle , Cesárea/estatística & dados numéricos
16.
Prenat Diagn ; 33(10): 959-64, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23740822

RESUMO

OBJECTIVES: We aimed to study the impact of online audit and feedback on fetal four-chamber view image quality. METHODS: Ultrasonographers uploaded a set of four-chamber views from 10 consecutive screening examinations and a second set 3 months later. They were randomised to receive (group A) or not (group B) a feedback for their first set. The primary outcome was the difference in image mean score and in percentage of inadequate images between the first set and the second set, comparing the groups with and without feedback. RESULTS: There were 258 ultrasonographers who completed the trial (group A: 122; group B: 136), and 5160 images were audited. In both groups, the mean score increased. In group A, it rose from 17.0 to 18.5 (p < 0.0001), and in group, B from 17.6 to 18.3 (p < 0.0001). The improvement was greater in group A than in group B (1.5 vs. 0.7, p = 0.0007). The mean percentage of inadequate images decreased in both groups. In group A, it dropped from 32% to 19% (p < 0.0001), and in group B, from 26% to 21% (p = 0.012). The decrease was greater in group A than in group B (13% vs. 5%, p = 0.007). CONCLUSIONS: Image quality improved following online audit, the improvement being slightly greater with feedback.


Assuntos
Retroalimentação , Auditoria Médica/métodos , Sistemas On-Line , Segundo Trimestre da Gravidez , Ultrassonografia Pré-Natal/normas , Competência Clínica/normas , Feminino , França , Humanos , Interpretação de Imagem Assistida por Computador/normas , Masculino , Tocologia , Médicos , Gravidez , Melhoria de Qualidade , Ultrassonografia Pré-Natal/métodos
17.
Prenat Diagn ; 32(7): 649-54, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22544566

RESUMO

OBJECTIVE: To compare the sex specific outcome of fetuses with prenatally detected urinary tract dilatation, with the exclusion of pyelectasia. METHOD: Included in the study were 709 cases of major dilatation of the fetal urinary tract, diagnosed at routine ultrasound scan. For each sex group, cases were divided into two subgroups depending on the level of dilatation. Final diagnosis was based on postnatal evaluation or on fetal autopsy. Postnatal renal function was evaluated using serum creatinine at two years of age. RESULTS: Bilateral higher urinary tract dilatation was prenatally observed in 148 (20.8%) and lower urinary tract obstruction or bladder dilatation in 561 (79.1%) of the 709 cases (121 female and 588 male fetuses) (P <0.001). Bladder dilatation was less frequent in female fetuses (62%) than in males (82.6%) (P <0.001). At final diagnosis, associated malformations were observed in 53.7% of female fetuses versus 11% in males (P <0.001). The survival rate was 42.7%. Postnatal renal function, evaluated in 289/303 live infants, was impaired in 29.7% of cases and depended on the level of obstruction, but not on the sex. CONCLUSION: Prenatally detected urinary tract dilatation has a poor prognosis both in male and female fetuses. Associated malformations are observed more frequently in female than in male fetuses.


Assuntos
Anormalidades Múltiplas/fisiopatologia , Dilatação Patológica/fisiopatologia , Doenças Fetais/fisiopatologia , Obstrução Ureteral/fisiopatologia , Obstrução Uretral/fisiopatologia , Sistema Urinário/fisiopatologia , Anormalidades Múltiplas/diagnóstico por imagem , Aborto Induzido , Adolescente , Adulto , Dilatação Patológica/diagnóstico por imagem , Duodeno/anormalidades , Duodeno/diagnóstico por imagem , Duodeno/fisiopatologia , Feminino , Morte Fetal , Doenças Fetais/diagnóstico por imagem , Humanos , Lactente , Recém-Nascido , Masculino , Gravidez , Resultado da Gravidez , Fatores Sexuais , Ultrassonografia Pré-Natal , Obstrução Ureteral/diagnóstico por imagem , Obstrução Uretral/diagnóstico por imagem , Bexiga Urinária/anormalidades , Bexiga Urinária/diagnóstico por imagem , Bexiga Urinária/fisiopatologia , Sistema Urinário/diagnóstico por imagem
18.
Orphanet J Rare Dis ; 16(1): 176, 2021 04 13.
Artigo em Inglês | MEDLINE | ID: mdl-33849607

RESUMO

BACKGROUND: Rare diseases may result in motor impairment, which in turn may affect parenthood. Our purpose was to evaluate perinatal outcomes, parenting needs, mother-infant interactions and infant development in a set of volunteer women with motor impairment due to a rare disease. In a parenting support institution, we recruited a consecutive series of 22 volunteer pregnant women or young mothers, recorded perinatal outcomes, and followed mother-infant interaction and relationship and infant development up to 14 months postpartum. Cases with intellectual or psychic disability were not included. RESULTS: There were 11 genetic diseases (2 Spinal Muscular Atrophy, 1 Charcot-Marie-Tooth, 1 autosomal dominants myopathy, 1 mitochondrial disease, 2 Elhers-Danlos, 1 Friedreich ataxia, 1 spinocerebellar ataxia, 1 tetrahydrobiopterine deficiency,1 Ectrodactyly), and 11 rare non-genetic conditions (2 spine tumors, 2 strokes, 1 juvenile chronic arthritis, 3 birth injuries, 1 inflammatory myopathy, 1 congenital amputation, and 1 traumatic amputation). These resulted in 10 impairments of four limbs, 4 impairments of both lower limbs, 7 unilateral impairments, and one distal tremor. Social deprivation Epices score, Cutrona social support scale, Edinburg Postnatal Depression scale, and Spielberger State/Trait Anxiety Inventory were unremarkable. Perinatal outcome: 4 gestational diabetes, 1 pre-eclampsia, 9 caesareans, 6 assisted and 7 spontaneous vaginal deliveries, 20 term live-births and 2 premature deliveries (35-36 weeks). Twelve women declared they were self-sufficient for daily activities; six declared they were self-sufficient to provide basic care to their baby. Distribution of the Brunet-Lezine child development score was normal. The parent-infant relationship global assessment scale (PIR-GAS) was well adapted in 2 cases, adapted in 8, perturbed in 7, significantly perturbed in 2, and distressed in 3 (mean 71.8; 95% CI 49.6-93.9). This was unrelated to any somatic or emotional characteristics of the participants. Coding interactive behavior revealed that infant engagement was lower and infant avoidance greater than in controls (p < 0.05). CONCLUSION: Infant development was normal, but mother-infant interactions were altered in half of the participants independently from the degree of motor impairment, underscoring the need for parenting support, even for parents who are self-sufficient in daily activities.


Assuntos
Depressão Pós-Parto , Pessoas com Deficiência , Transtornos Motores , Criança , Feminino , Humanos , Lactente , Relações Mãe-Filho , Poder Familiar , Gravidez
19.
J Gynecol Obstet Hum Reprod ; 50(2): 101938, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33068770

RESUMO

PURPOSE: Transvaginal ultrasound examination is decisive in Gynecologic emergency unit. This study's aim was to evaluate benefits of using a simulator for initial training of medical student for transvaginal ultrasound examination. METHOD: A multicenter randomized trial was conducted. Medical student were randomized in two groups: in the intervention group, students took part in a simulation session in addition to the companionship-training while in the control group, they were only trained by companionship. To evaluate their progression, the quality of ultrasound pictures performed in real conditions before (pre-test) and after (post-test) the training by the students of both groups were evaluated and compared. Evaluation was performed according to predefined quality criterias for each ultrasound examination using a score of 20 points. Mean scores of students in both groups were compared for the pre and post-test. RESULTS: Fifty six medical students were included. Mean scores of the 56 students were significantly better at the post-test than at the pre-test: 10,61/20 [9,62-11, 59] vs 6,35/20 [5,48-7,24], p < 0,001. Mean scores were significantly better at the post-test for students in the intervention group (n = 29) than in the control group (n = 27) 11,79/20 [7,72-10,94] vs 9,33/20 [7,72-10,94], p = 0,01. All the students in the intervention group were satisfied or highly satisfied to take part in this program. CONCLUSIONS: Using a simulator for medical student was beneficial in the initial training of transvaginal ultrasound examination.


Assuntos
Ginecologia/educação , Treinamento por Simulação , Ultrassonografia , Vagina/diagnóstico por imagem , Educação de Graduação em Medicina , Feminino , França , Hospitais de Ensino , Humanos , Método Simples-Cego , Estudantes de Medicina
20.
Front Psychol ; 12: 646170, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33790843

RESUMO

Introduction: Motherese, or emotional infant directed speech (IDS), is the specific form of speech used by parents to address their infants. The prosody of IDS has affective properties, expresses caregiver involvement, is a marker of caregiver-infant interaction quality. IDS prosodic characteristics can be detected with automatic analysis. We aimed to explore whether pregnant women "speak" to their unborn baby, whether they use motherese while speaking and whether anxio-depressive or obstetrical status impacts speaking to the fetus. Participants and Methods: We conducted an observational study of pregnant women with gestational ages from 26 to 38 weeks. Women were recruited in a university hospital department of obstetrics. Thirty-five women agreed to participate in the study, and 26 audio records were exploitable. We collected obstetrical and sociodemographic data, pregnancy outcomes, anxiety and depressive status using the Covy and Raskin Scales, and life events using the Sensations During Pregnancy and Life Event Questionnaire. Each participant was left alone with an audio recorder with a recommendation to feel free to speak to her fetus as she would have done at home. The recording was stopped after 3 min. Audio recordings were analyzed by two methods: psycholinguist experts' annotation and computational objective automatic analyses. Results: Most mothers (89%) reported speaking to their fetuses. We found a correlation between maternal first perceptions of fetal movements and the start of mother's speaking to fetus. Motherese prosody was detected with both annotation and automatic analysis with a significant correlation between the two methods. In this exploratory study, motherese use was not associated with maternal anxiodepressive or obstetrical status. However, the more future mothers were depressed, the less they spoke with their fetuses during the recording. Conclusion: Fetal directed speech (FDS) can be detected during pregnancy, and it contains a period of prosody that shares the same characteristics of motherese that can be described as prenatal motherese or emotional fetal-directed speech (e-FDS). This means that pregnant women start using motherese much earlier than expected. FDS seems to be correlated with maternal first perceptions of fetal movements and depression scores. However, more research is needed to confirm these exploratory results.

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