228 results on '"Oury JF"'
Search Results
2. Monitoring healthcare quality in an obstetrics and gynaecology department using a CUSUM chart
- Author
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Boulkedid, R, primary, Sibony, O, additional, Bossu‐Salvador, C, additional, Oury, JF, additional, and Alberti, C, additional
- Published
- 2010
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3. Uterine compression sutures for postpartum bleeding with uterine atony
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Ouahba, J, primary, Piketty, M, additional, Huel, C, additional, Azarian, M, additional, Feraud, O, additional, Luton, D, additional, Sibony, O, additional, and Oury, JF, additional
- Published
- 2007
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4. Prenatal isolated mild ventriculomegaly: outcome in 167 cases
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Ouahba, J, primary, Luton, D, additional, Vuillard, E, additional, Garel, C, additional, Gressens, P, additional, Blanc, N, additional, Elmaleh, M, additional, Evrard, P, additional, and Oury, JF, additional
- Published
- 2006
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5. Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia
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Mornet, E, primary, Taillandier, A, additional, Peyramaure, S, additional, Kaper, F, additional, Muller, F, additional, Brenner, R, additional, Bussière, P, additional, Freisinger, P, additional, Godard, J, additional, Le Merrer, M, additional, Oury, JF, additional, Plauchu, H, additional, Puddu, R, additional, Rival, JM, additional, Superti-Furga, A, additional, Touraine, RL, additional, Serre, JL, additional, and Simon-Bouy, B, additional
- Published
- 1998
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6. Fetal obstructive uropathy complicated by urinary ascites: outcome and prognostic value of fetal serum [beta]-2-microglobulin.
- Author
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Spaggiari E, Dreux S, Czerkiewicz I, Favre R, Schmitz T, Guimiot F, Laurichesse Delmas H, Verspyck E, Oury JF, Ville Y, and Muller F
- Abstract
OBJECTIVES: To determine whether the prognostic value of fetal serum [beta]-2-microglobulin is altered and whether the occurrence of fetal urinary ascites prevents kidney damage in cases of fetal obstructive uropathy with urinary ascites. METHODS: This was a retrospective study of cases of fetal bilateral obstructive uropathy that occurred between 2006 and 2010, for which both fetal serum and ascites samples were sent to our laboratory for analysis. [beta]-2-microglobulin was assayed in both fetal serum and the corresponding ascites. Renal outcome was analyzed. Histological features of the kidney in cases of termination of pregnancy and renal function of liveborn infants were recorded. RESULTS: Fourteen cases with analysis of fetal serum and fetal ascites in a context of urinary obstruction were included. Renal outcome was unfavorable in eight cases (57%) and favorable in six (43%). When fetal serum [beta]-2-microglobulin was < 5 mg/L, renal outcome was favorable in all cases (4/4). When fetal serum [beta]-2-microglobulin was >= 5 mg/L, 8/10 cases (80%) had an unfavorable renal outcome (sensitivity, 100%; specificity, 66%). CONCLUSION: Fetal serum [beta]-2-microglobulin reliably predicts postnatal renal outcome in obstructive uropathy complicated by urinary ascites. Moreover, urine extravasation does not seem to protect fetal renal function. [ABSTRACT FROM AUTHOR]
- Published
- 2013
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7. Vaginal birth after cesarean section: X-ray pelvimetry at term is informative.
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Sibony O, Alran S, and Oury JF
- Abstract
Objective: To examine whether X-ray pelvimetry data to evaluate the likelihood of vaginal birth after previous cesarean section. Design: Retrospective study Setting: University hospital Population: Patients with a previous cesarean delivery who underwent X-ray pelvimetry and gave birth at gestational age 37 weeks during a seven-year period. Methods: 1190 patients with a scarred uterus were compared with 15,189 patients without a scarred uterus. In the scarred uterus group, 760 patients with a transverse pelvic diameter > or =12 cm were compared with 430 patients with a transverse pelvic diameter < 12 cm. Main outcome measures: The obstetrical outcomes were spontaneous or induced labor, and mode of delivery. The maternal morbidity outcomes were hemorrhage requiring transfusion of packed red cells, uterine rupture, bladder injury, and hysterectomy due to hemorrhage. The neonatal morbidity outcomes were the 5-min Apgar score, transfer to intensive care, and intubation. Results: Patients with a scarred uterus had a significantly higher rate of cesarean section (35.5%) than those with no prior cesarean section (9%). Among patients with a scarred uterus who were selected for vaginal delivery, 81% delivered vaginally when the transverse diameter (TD) of the pelvic inlet was greater than 12 cm, 68% when the TD was between 11.5 and 12 cm, and 58% when the TD was less than 11.5 cm. Maternal morbidity was significantly higher in the patients with a scarred uterus. The neonatal results were comparable in the different groups. Conclusion: X-ray pelvimetry tailors the information given to each patient about the likelihood of having a vaginal delivery. It can also be used to optimize the selection of patients allowed to enter labor. [ABSTRACT FROM AUTHOR]
- Published
- 2006
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8. Amniotic fluid peptides predict postnatal kidney survival in developmental kidney disease.
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Klein J, Buffin-Meyer B, Boizard F, Moussaoui N, Lescat O, Breuil B, Fedou C, Feuillet G, Casemayou A, Neau E, Hindryckx A, Decatte L, Levtchenko E, Raaijmakers A, Vayssière C, Goua V, Lucas C, Perrotin F, Cloarec S, Benachi A, Manca-Pellissier MC, Delmas HL, Bessenay L, Le Vaillant C, Allain-Launay E, Gondry J, Boudailliez B, Simon E, Prieur F, Lavocat MP, Saliou AH, De Parscau L, Bidat L, Noel C, Floch C, Bourdat-Michel G, Favre R, Weingertner AS, Oury JF, Baudouin V, Bory JP, Pietrement C, Fiorenza M, Massardier J, Kessler S, Lounis N, Auriol FC, Marcorelles P, Collardeau-Frachon S, Zürbig P, Mischak H, Magalhães P, Batut J, Blader P, Saulnier Blache JS, Bascands JL, Schaefer F, Decramer S, and Schanstra JP
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- Amniotic Fluid, Animals, Child, Female, Humans, Kidney diagnostic imaging, Peptides, Pregnancy, Prospective Studies, Zebrafish, Kidney Diseases, Urinary Tract, Urogenital Abnormalities diagnostic imaging
- Abstract
Although a rare disease, bilateral congenital anomalies of the kidney and urinary tract (CAKUT) are the leading cause of end stage kidney disease in children. Ultrasound-based prenatal prediction of postnatal kidney survival in CAKUT pregnancies is far from accurate. To improve prediction, we conducted a prospective multicenter peptidome analysis of amniotic fluid spanning 140 evaluable fetuses with CAKUT. We identified a signature of 98 endogenous amniotic fluid peptides, mainly composed of fragments from extracellular matrix proteins and from the actin binding protein thymosin-β4. The peptide signature predicted postnatal kidney outcome with an area under the curve of 0.96 in the holdout validation set of patients with CAKUT with definite endpoint data. Additionally, this peptide signature was validated in a geographically independent sub-cohort of 12 patients (area under the curve 1.00) and displayed high specificity in non-CAKUT pregnancies (82 and 94% in 22 healthy fetuses and in 47 fetuses with congenital cytomegalovirus infection respectively). Change in amniotic fluid thymosin-β4 abundance was confirmed with ELISA. Knockout of thymosin-β4 in zebrafish altered proximal and distal tubule pronephros growth suggesting a possible role of thymosin β4 in fetal kidney development. Thus, recognition of the 98-peptide signature in amniotic fluid during diagnostic workup of prenatally detected fetuses with CAKUT can provide a long-sought evidence base for accurate management of the CAKUT disorder that is currently unavailable., (Copyright © 2021 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.)
- Published
- 2021
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9. Perinatal mortality and morbidity, timing and route of delivery in monoamniotic twin pregnancies: a retrospective cohort study.
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Chitrit Y, Korb D, Morin C, Schmitz T, Oury JF, and Sibony O
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- Adult, Delivery, Obstetric, Female, Gestational Age, Humans, Infant, Infant, Newborn, Morbidity, Pregnancy, Pregnancy, Twin, Prospective Studies, Retrospective Studies, Twins, Monozygotic, Congenital Abnormalities mortality, Fetal Death, Perinatal Death, Perinatal Mortality
- Abstract
Purpose: Monoamniotic twin pregnancies are at high risk of perinatal complications and fetal loss. The objective of this study is to describe the management and outcomes of monoamniotic twin pregnancies in a French university obstetrics department., Methods: Retrospective review of all consecutive monoamniotic twin pregnancies managed between 1992 and 2018 in a level-3 university hospital maternity unit. Antenatal variables, gestational age and other neonatal characteristics at delivery, mode of delivery, and its reason were recorded, together with outcomes, including a composite adverse neonatal outcome., Results: Overall, 46 monoamniotic twin pregnancies (92 fetuses) were identified during the study period. Among them, 27 fetal losses and 2 early neonatal deaths were reported. Congenital abnormalities accounted for 33.3% of the 27 fetal losses, and unexpected fetal deaths for 29.6%. Among the 37 women who gave birth to 65 live infants at 23 or more weeks of gestation, 17 had cesarean and 19 vaginal deliveries. Overall and composite adverse neonatal outcomes did not differ significantly for the 33 children born vaginally and the 31 by cesarean deliveries. The prospective risk of intrauterine death in all 92 fetuses reached its nadir of 1.8% at 33
6/7 weeks., Conclusion: This series confirms the still high risk of fetal and neonatal death of these twins and shows that congenital abnormalities but also unexpected fetal deaths account for the majority of pre- and postnatal mortality. Our data suggest that vaginal delivery of monoamniotic twins is safe and that delivery for uncomplicated monoamniotic twins should be considered around 33 weeks of gestation, but not later than 35 weeks.- Published
- 2021
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10. Cell Metabolic Alterations due to Mcph1 Mutation in Microcephaly.
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Journiac N, Gilabert-Juan J, Cipriani S, Benit P, Liu X, Jacquier S, Faivre V, Delahaye-Duriez A, Csaba Z, Hourcade T, Melinte E, Lebon S, Violle-Poirsier C, Oury JF, Adle-Biassette H, Wang ZQ, Mani S, Rustin P, Gressens P, and Nardelli J
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- Animals, Cell Cycle Proteins metabolism, Cell Differentiation genetics, Cell Proliferation genetics, Cell Survival genetics, Cytoskeletal Proteins metabolism, Female, HEK293 Cells, HSP70 Heat-Shock Proteins genetics, HSP70 Heat-Shock Proteins metabolism, Humans, Male, Mice, Mice, Inbred C57BL, Microcephaly physiopathology, Mitochondria metabolism, Mitochondrial Proteins genetics, Mitochondrial Proteins metabolism, Mutation, Nerve Tissue Proteins metabolism, Neurogenesis genetics, Neuroglia metabolism, Neurons metabolism, Voltage-Dependent Anion Channel 1 genetics, Voltage-Dependent Anion Channel 1 metabolism, Cell Cycle Proteins genetics, Cytoskeletal Proteins genetics, Microcephaly genetics, Microcephaly metabolism
- Abstract
A distinctive feature of neocortical development is the highly coordinated production of different progenitor cell subtypes, which are critical for ensuring adequate neurogenic outcome and the development of normal neocortical size. To further understand the mechanisms that underlie neocortical growth, we focused our studies on the microcephaly gene Mcph1, and we report here that Mcph1 (1) exerts its functions in rapidly dividing apical radial glial cells (aRGCs) during mouse neocortical development stages that precede indirect neurogenesis; (2) is expressed at mitochondria; and (3) controls the proper proliferation and survival of RGCs, potentially through crosstalk with cellular metabolic pathways involving the stimulation of mitochondrial activity via VDAC1/GRP75 and AKT/HK2/VDAC1 and glutaminolysis via ATF4/PCK2. We currently report the description of a MCPH-gene implication in the interplay between bioenergetic pathways and neocortical growth, thus pointing to alterations of cellular metabolic pathways, in particular glutaminolysis, as a possible cause of microcephalic pathogenesis., Competing Interests: Declaration of Interests The authors declare no competing interests., (Copyright © 2020 Institut National de la Sante et de la Recherche Médicale. Published by Elsevier Inc. All rights reserved.)
- Published
- 2020
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11. A randomised controlled trial of amnioexchange for fetal gastroschisis.
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Luton D, Mitanchez D, Winer N, Muller F, Gallot D, Perrotin F, Jouannic JM, Bretelle F, de Lagausie P, Ville Y, Guibourdenche J, Oury JF, Alberti C, and Benachi A
- Subjects
- Adult, Biomarkers analysis, Chlorides pharmacokinetics, Drainage adverse effects, Female, Fetal Diseases diagnosis, Gastroschisis diagnosis, Gestational Age, Humans, Inflammation Mediators analysis, Pregnancy, Pregnancy Outcome, Prospective Studies, Sodium Chloride pharmacokinetics, Amniotic Fluid chemistry, Chlorides administration & dosage, Drainage methods, Fetal Diseases therapy, Gastroschisis therapy, Prenatal Care methods, Sodium Chloride administration & dosage
- Abstract
Objective: Morbidity in fetuses affected by gastroschisis is mainly the result of bowel ischaemic and inflammatory processes. Experimental studies on animal models show that clearing amniotic fluid from the digestive secretions by amnioexchange procedures reduces the inflammatory process. We evaluated the benefit of the amnioexchange procedure for fetal gastroschisis in humans., Design: Prospective, interventional, randomised study., Setting: Eight referral centres for fetal medicine., Population: Pregnant women carrying a fetus with gastroschisis., Methods: We compared, in utero, amnioexchange with a sham procedure. The protocol included, in both arms, steroid injections at 30 weeks of gestation and the use of postnatal minimal enteral feeding., Main Outcome Measures: The primary outcome was a composite variable based on the duration of ventilation and parenteral nutrition. Secondary outcomes were the effectiveness and safety of the amnioexchange procedure, including the rate of perinatal death, time to full enteral feeding, primary closure, and late feeding disorders., Results: Sixty-four patients were randomised. There was no difference in the composite criteria between the amnioexchange and control groups. Based on an intention-to-treat analysis, there were no significant between-group differences in pregnancy outcome or complications. When studying the relationship between digestive compounds and amniotic fluid inflammatory markers, a clear correlation was found between bile acid and both ferritin and interleukin 1β (IL1β)., Conclusions: In humans, amnioexchange, as described in our protocol, is not an option for fetal care; however, we provide supplementary proof of the involvement of inflammation in the pathogenicity of gastroschisis and suggest that future research should aim at reducing inflammation. ClinicalTrials.gov: NCT00127946., Tweetable Abstract: A prospective, interventional, randomised study shows no benefit of amnioexchange for fetal gastroschisis in humans., (© 2019 Royal College of Obstetricians and Gynaecologists.)
- Published
- 2019
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12. Urine biochemistry to predict long-term outcomes in fetuses with posterior urethral valves.
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Dreux S, Rosenblatt J, Moussy-Durandy A, Patin F, Favre R, Lortat-Jacob S, El Ghoneimi A, Oury JF, Deschenes G, Ville Y, Heidet L, and Muller F
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- Biomarkers urine, Child, Chlorides urine, Female, Fetal Diseases diagnostic imaging, Fetal Diseases etiology, Glomerular Filtration Rate, Humans, Male, Oligohydramnios diagnostic imaging, Oligohydramnios etiology, Predictive Value of Tests, Pregnancy, Prognosis, Renal Insufficiency, Chronic congenital, Renal Insufficiency, Chronic etiology, Retrospective Studies, Urethral Obstruction congenital, Urethral Obstruction diagnostic imaging, Urethral Obstruction etiology, Urinalysis, Fetal Diseases urine, Renal Insufficiency, Chronic physiopathology, Renal Insufficiency, Chronic urine, Urethral Obstruction urine, beta 2-Microglobulin urine
- Abstract
Objective: Because the literature on the predictive value of fetal urinalysis is controversial in fetuses with lower urinary tract obstruction, we determined the best model of fetal urine biochemical markers correlated with long-term postnatal renal function based on glomerular filtration rate (GFR)., Method: This retrospective study concerned 89 fetuses with lower urinary tract obstruction and their renal function after 10 years of age. We correlated fetal urine biochemical markers (total protein, β2-microglobulin, sodium, chloride, glucose, calcium, and phosphorus) with GFR at 10 to 30 years of age in 89 patients with posterior urethral valves. We defined five stages of chronic kidney disease (CKD)., Results: Of the 89 patients, 18 (20%) are 20 years old or over. Postnatal renal function was good in 67.4% (GFR > 60 mL/min/1.73 m
2 ) and poor in 17% (GFR < 30 mL/min/1.73 m2 ). All fetal urine markers differed between CKD stage 1 + 2 and CKD stage 4 + 5 (P < 0.001). β2-microblobulin showed an 87% sensitivity for a 72% specificity. A combination of β2-microglobulin and chloride gave the best results (93% sensitivity and 71% specificity) versus amniotic fluid volume (80% sensitivity and 73% specificity)., Conclusion: Fetal urine biochemistry predicts long-term (10-30 years) postnatal renal function., (© 2018 John Wiley & Sons, Ltd.)- Published
- 2018
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13. [How I do... trachelorraphy in patients with history of second trimester loss or recurring preterm birth].
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Korb D, Oury JF, and Sibony O
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- Female, Humans, Pregnancy, Pregnancy Trimester, Second, Cerclage, Cervical methods, Premature Birth prevention & control, Uterine Cervical Incompetence surgery
- Published
- 2018
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14. Prenatal diagnosis of megacystis microcolon intestinal hypoperistalsis syndrome by biochemical analysis of fetal urine.
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Rosenblatt J, Dreux S, Spaggiari E, Morin C, Allaf B, Valat AS, Halim D, Oury JF, and Muller F
- Abstract
Objectives: The objective of the study is to determine a model of fetal urine biochemical markers to differentiate megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) from other megacystis., Method: This is a retrospective study of biochemical analysis of fetal urine in patients who presented prenatally with megacystis. We studied β2-microglobulin, sodium, calcium, and phosphorus. Twenty-six patients subsequently diagnosed with MMIHS were compared with 2 control groups: one of end-stage renal failure (64 fetuses) and the second of "good" postnatal renal function (control group, 64 fetuses)., Results: Mean fetal urine β2-microglobulin was significantly higher (P < .001) in end-stage renal failure (15.7 mg/L) than in MMIHS (2.2 mg/L) and the control group (3.2 mg/L). Fetal urine profiles differed significantly (P < .001) between MMIHS and the control group: median sodium 46.5 and 51 mmol/L, median calcium 1.12 and 0.73 mmol/L, and median phosphorus 0.03 and 0.15 mmol/L respectively. Fetal urinary ionic index [ratio: calcium / (phosphorus × sodium)] gave an area under the ROC curve of 0.86, at 54% sensitivity and 97% specificity, with correct classification in 84% of cases. We defined a nomogram to obtain a probability for MMIHS., Conclusion: Fetal urinalysis can be helpful in prenatal differentiation of MMIHS from posterior urethral valves with good postnatal renal function., (© 2018 John Wiley & Sons, Ltd.)
- Published
- 2018
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15. Association between inadequate antenatal care utilisation and severe perinatal and maternal morbidity: an analysis in the PreCARE cohort.
- Author
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Linard M, Blondel B, Estellat C, Deneux-Tharaux C, Luton D, Oury JF, Schmitz T, Mandelbrot L, and Azria E
- Subjects
- Adult, Female, Humans, Logistic Models, Odds Ratio, Paris epidemiology, Pregnancy, Prospective Studies, Patient Acceptance of Health Care statistics & numerical data, Pregnancy Complications epidemiology, Prenatal Care statistics & numerical data
- Abstract
Objective: Because the effectiveness of antenatal care in reducing pregnancy complications is still discussed despite widespread recommendations of its use, we sought to assess the association between utilisation of recommended antenatal care and severe maternal (SMM) and perinatal morbidity (SPM)., Design: Prospective cohort study., Setting: Four maternity units around Paris in 2010-2012., Sample: 9117 women with singleton pregnancies., Methods: Logistic regression models adjusted for maternal social, demographic and medical characteristics., Main Outcome Measures: Antenatal care utilisation was assessed by: (1) initiation of care after 14 weeks, (2) < 50% of recommended visits made, according to gestational age, (3) absence of the first, second or third trimester ultrasounds, (4) two modified Adequacy of Prenatal Care Utilisation indexes, combining these components. The two main outcomes were composite variables of SMM and SPM., Results: According to the modified Adequacy of Prenatal Care Utilisation index, 34.6% of women had inadequate antenatal care utilisation; the incidence of severe maternal morbidity (SMM) was 2.9% and severe perinatal morbidity (SPM) 5.5%. A percentage of recommended visits below 50% (2.6% of women) was associated with SMM [adjusted odds ratio (OR) 2.40 (1.38-4.17)] and SPM [aOR 2.27 (1.43-3.59)]. Late initiation of care (17.0% of women) was not associated with SMM or SPM. Failure to undergo the recommended ultrasounds (16, 17 and 22% of women) was associated with SPM. Inadequate antenatal care utilisation according to the index was associated with SPM [aOR 1.37 (1.05-1.80)]., Conclusion: Inadequate antenatal care utilisation is associated with SMM and SPM, to degrees that vary with the component of care and the outcome considered., Tweetable Abstract: Inadequate antenatal care utilisation is associated with severe maternal and perinatal morbidity., (© 2017 Royal College of Obstetricians and Gynaecologists.)
- Published
- 2018
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16. Socioeconomic Deprivation and Utilization of Anesthetic Care During Pregnancy and Delivery: A Secondary Analysis of a French Prospective, Multicenter, Cohort Study.
- Author
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Kantor E, Guglielminotti J, Azria E, Luton D, Laurent M, Oury JF, Mahieu-Caputo D, Ravaud P, and Estellat C
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- Analgesia, Obstetrical economics, Analgesia, Obstetrical statistics & numerical data, Cohort Studies, Female, France epidemiology, Humans, Pregnancy, Prospective Studies, Retrospective Studies, Anesthesia, Obstetrical economics, Anesthesia, Obstetrical statistics & numerical data, Delivery, Obstetric economics, Pain Management economics, Pain Management statistics & numerical data, Social Class
- Abstract
Background: Socioeconomic deprivation is associated with reduced use of antenatal resources and poor maternal outcomes with pregnancy. Research examining the association between socioeconomic deprivation and use of obstetric anesthesia care in a country providing universal health coverage is scarce. We hypothesized that in a country providing universal health coverage, France, socioeconomic deprivation is not associated with reduced use of anesthetic care during pregnancy and delivery. This study aimed to examine the association between socioeconomic deprivation and (1) completion of a mandatory preanesthetic evaluation during pregnancy and (2) use of neuraxial analgesia during labor., Methods: Data were from a cohort of 10,419 women who delivered between 2010 and 2011 in 4 public teaching hospitals in Paris. We used a deprivation index that included 4 criteria: social isolation, poor housing condition, no work-related household income, and state-funded health care insurance. Socioeconomic deprivation was defined as a deprivation index greater than 1. Preanesthetic evaluation was considered completed if performed more than 48 hours before delivery. The association between socioeconomic deprivation and completion of the preanesthetic evaluation and use of neuraxial labor analgesia was assessed by multivariable logistic regression adjusting for education level, country of birth, and maternal and pregnancy characteristics., Results: Preanesthetic evaluation was completed for 8142 of the 8624 women (94.4%) analyzed and neuraxial labor analgesia was used by 6258 of the 6834 women analyzed (91.6%). After adjustment, socioeconomic deprivation was associated with reduced probability of completed preanesthetic evaluation (adjusted odds ratio 0.88 [95% confidence interval, 0.79-0.98]; P = .027) but not use of neuraxial labor analgesia (adjusted odds ratio 0.97 [95% confidence interval, 0.87-1.07]; P = .540)., Conclusions: In a country providing universal health care coverage, women who were socioeconomically deprived showed reduced completion of preanesthetic evaluation during pregnancy but not reduced use of neuraxial labor analgesia. Interventions should be targeted to socioeconomically deprived women to increase the completion of the preanesthetic evaluation.
- Published
- 2017
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17. Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
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Halim D, Brosens E, Muller F, Wangler MF, Beaudet AL, Lupski JR, Akdemir ZHC, Doukas M, Stoop HJ, de Graaf BM, Brouwer RWW, van Ijcken WFJ, Oury JF, Rosenblatt J, Burns AJ, Tibboel D, Hofstra RMW, and Alves MM
- Subjects
- Base Sequence, Colon enzymology, Female, Homozygote, Humans, Male, Pedigree, Urinary Bladder enzymology, Abnormalities, Multiple enzymology, Abnormalities, Multiple genetics, Colon abnormalities, Genes, Recessive, Intestinal Pseudo-Obstruction enzymology, Intestinal Pseudo-Obstruction genetics, Mutation genetics, Myosin-Light-Chain Kinase genetics, Urinary Bladder abnormalities
- Abstract
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital disorder characterized by loss of smooth muscle contraction in the bladder and intestine. To date, three genes are known to be involved in MMIHS pathogenesis: ACTG2, MYH11, and LMOD1. However, for approximately 10% of affected individuals, the genetic cause of the disease is unknown, suggesting that other loci are most likely involved. Here, we report on three MMIHS-affected subjects from two consanguineous families with no variants in the known MMIHS-associated genes. By performing homozygosity mapping and whole-exome sequencing, we found homozygous variants in myosin light chain kinase (MYLK) in both families. We identified a 7 bp duplication (c.3838_3844dupGAAAGCG [p.Glu1282_Glyfs
∗ 51]) in one family and a putative splice-site variant (c.3985+5C>A) in the other. Expression studies and splicing assays indicated that both variants affect normal MYLK expression. Because MYLK encodes an important kinase required for myosin activation and subsequent interaction with actin filaments, it is likely that in its absence, contraction of smooth muscle cells is impaired. The existence of a conditional-Mylk-knockout mouse model with severe gut dysmotility and abnormal function of the bladder supports the involvement of this gene in MMIHS pathogenesis. In aggregate, our findings implicate MYLK as a gene involved in the recessive form of MMIHS, confirming that this disease of the visceral organs is heterogeneous with a myopathic origin., (Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)- Published
- 2017
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18. Association between maternal social deprivation and prenatal care utilization: the PreCARE cohort study.
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Gonthier C, Estellat C, Deneux-Tharaux C, Blondel B, Alfaiate T, Schmitz T, Oury JF, Mandelbrot L, Luton D, Ravaud P, and Azria E
- Subjects
- Adult, Female, France, Humans, Logistic Models, Maternal Age, Multivariate Analysis, Pregnancy, Prenatal Care psychology, Prospective Studies, Risk Factors, Pregnant Women psychology, Prenatal Care statistics & numerical data, Social Isolation psychology
- Abstract
Background: Maternal social deprivation is associated with an increased risk of adverse maternal and perinatal outcomes. Inadequate prenatal care utilization (PCU) is likely to be an important intermediate factor. The health care system in France provides essential health services to all pregnant women irrespective of their socioeconomic status. Our aim was to assess the association between maternal social deprivation and PCU., Methods: The analysis was performed in the database of the multicenter prospective PreCARE cohort study. The population source consisted in all parturient women registered for delivery in 4 university hospital maternity units, Paris, France, from October 2010 to November 2011 (N = 10,419). This analysis selected women with singleton pregnancies that ended after 22 weeks of gestation (N = 9770). The associations between maternal deprivation (four variables first considered separately and then combined as a social deprivation index: social isolation, poor or insecure housing conditions, no work-related household income, and absence of standard health insurance) and inadequate PCU were tested through multivariate logistic regressions also adjusted for immigration characteristics and education level., Results: Attendance at prenatal care was poor for 23.3% of the study population. Crude relative risks and confidence intervals for inadequate PCU were 1.6 [1.5-1.8], 2.3 [2.1-2.6], and 3.1 [2.8-3.4], for women with a deprivation index of 1, 2, and 3, respectively, compared to women with deprivation index of 0. Each of the four deprivation variables was significantly associated with an increased risk of inadequate PCU. Because of the interaction observed between inadequate PCU and mother's country of birth, we stratified for the latter before the multivariate analysis. After adjustment for the potential confounders, this social gradient remained for women born in France and North Africa. The prevalence of inadequate PCU among women born in sub-Saharan Africa was 34.7%; the social gradient in this group was attenuated and no longer significant. Other factors independently associated with inadequate PCU were maternal age, recent immigration, and unplanned or unwanted pregnancy., Conclusion: Social deprivation is independently associated with an increased risk of inadequate PCU. Recognition of risk factors is an important step in identifying barriers to PCU and developing measures to overcome them.
- Published
- 2017
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19. Sequential fetal serum β2-microglobulin to predict postnatal renal function in bilateral or low urinary tract obstruction.
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Spaggiari E, Faure G, Dreux S, Czerkiewicz I, Stirnemann JJ, Guimiot F, Heidet L, Favre R, Salomon LJ, Oury JF, Ville Y, and Muller F
- Subjects
- Child, Child, Preschool, Female, Fetal Diseases blood, Fetal Diseases diagnosis, France, Gestational Age, Glomerular Filtration Rate, Humans, Infant, Infant, Newborn, Kidney abnormalities, Predictive Value of Tests, Pregnancy, Pregnancy Outcome, Retrospective Studies, Ureteral Obstruction blood, Urethral Obstruction blood, Biomarkers blood, Kidney physiology, Prenatal Diagnosis, Ureteral Obstruction diagnosis, Urethral Obstruction diagnosis, beta 2-Microglobulin blood
- Abstract
Objective: Fetal serum β2-microglobulin has been shown to predict postnatal renal outcome in cases of fetal obstructive uropathy. We assessed the value of serial measurements of fetal serum β2-microglobulin in the prediction of postnatal renal outcome., Methods: We retrospectively studied renal outcome in 42 fetuses with bilateral or low urinary tract obstruction that had fetal blood sampling on at least two occasions to assay serum levels of β2-microglobulin. Amniotic fluid volume at the time of each sampling was recorded. We classified renal outcome as either favorable (when postnatal renal function was normal) or adverse (when postnatal chronic renal failure occurred or when renal dysplasia at autopsy was noted). A β2-microglobulin cut-off of 5 mg/L and amniotic fluid index of 5 cm were used to predict postnatal renal outcome., Results: Renal outcome was adverse in 28 cases and favorable in 14. In 12 (28.6%) cases, fetal serum β2-microglobulin concentration differed between the first and last measurement. Prediction of postnatal renal outcome was correct in 11 of these cases based on the last β2-microglobulin measurement. The sensitivity of β2-microglobulin in predicting renal outcome was significantly higher (P = 0.005) when using the last rather than the first measurement (96.4% vs 64.3%), with similar specificity for both measurements (85.7% vs 78.6%, non-significant). The sensitivity of amniotic fluid volume was also significantly higher (P = 0.005) when using the last rather than the first measurement (75.0% vs 35.7%), with similar specificity for both measurements (64.3% vs 71.4%, non-significant)., Conclusion: Sequential measurement of serum β2-microglobulin, performed for adverse ultrasound findings, such as renal parenchymal abnormality or decreasing amniotic fluid volume, predicts postnatal renal outcome more accurately than does a single assay. This may be due to possible worsening of renal injury with increasing duration of urinary tract obstruction. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd., (Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.)
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- 2017
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20. Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone.
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Rachid M, Dreux S, Pean de Ponfilly G, Vargas-Poussou R, Czerkiewicz I, Chevenne D, Oury JF, Deschênes G, and Muller F
- Subjects
- Case-Control Studies, Female, Gestational Age, Humans, Hyperaldosteronism congenital, Hyperaldosteronism diagnosis, Polyhydramnios diagnosis, Pregnancy, Radioimmunoassay, Retrospective Studies, Aldosterone analysis, Amniotic Fluid chemistry, Bartter Syndrome diagnosis, Prenatal Diagnosis methods
- Abstract
Bartter syndrome is a severe inherited tubulopathy characterized at birth by salt wasting, severe polyuria, dehydration, growth retardation and secondary hyperaldosteronism. Prenatally, the disease is usually discovered following onset of severe polyhydramnios. We studied amniotic fluid aldosterone concentration in cases of Bartter syndrome and in control groups. Amniotic fluid aldosterone was assayed by radioimmunoassay. We undertook a retrospective case-control study based on 36 cases of postnatally diagnosed Bartter syndrome and 144 controls matched for gestational age. Two controls groups were defined: controls with polyhydramnios (n=72) and control without polyhydramnios (n=72). Amniotic fluid aldosterone was compared between the three groups. The median amniotic fluid aldosterone concentration in the Bartter syndrome group (90 pg/mL) did not differ significantly from that in the controls with polyhydramnios (90 pg/mL, p=0.33) or the controls without polyhydramnios (87 pg/mL, p=0.41). In conclusion, amniotic fluid aldosterone assay cannot be used for prenatal diagnosis of Bartter syndrome.
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- 2017
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21. Effectiveness of elective cervical cerclage according to obstetric history.
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Korb D, Marzouk P, Deu J, Oury JF, and Sibony O
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- Adult, Cohort Studies, Female, France epidemiology, Gestational Age, Humans, Middle Aged, Pregnancy, Premature Birth epidemiology, Retrospective Studies, Secondary Prevention, Young Adult, Cerclage, Cervical, Elective Surgical Procedures, Premature Birth prevention & control, Uterine Cervical Incompetence surgery
- Abstract
Objective: To assess the effectiveness of elective history-indicated cervical cerclage according to obstetrical history., Study Design: We analyzed pregnancy outcome of a retrospective cohort of women who have had history-indicated McDonald's cerclage. Principal outcome was gestational age (GA) at delivery., Result: Between January 2003 and December 2013, 205 women were included. We analyzed population in two risk groups: 1- Low-risk (≤2 prior preterm birth (PTB)/second trimester loss (STL), or prior success of cerclage), 2- High risk (≥3 prior PTB/STL, or prior failure of cerclage). In the high-risk group, there was a higher frequency of deliveries before 37 weeks (47.5% vs. 24.5%, P=0.001, OR=2.79, 95% CI [1.49-5.23]). Fifty percent of women (n=6/12) delivered before 37 weeks in case of three or more prior PTB/STL, and 51% (n=24/47) in case of prior failure of cervical cerclage., Conclusion: Elective cervical cerclage may be indicated for women with≤2 prior PTB/STL, or prior successful cerclage. For women with≥3 prior PTB/STL, trachelorraphy or cervico-isthmic cerclage could be possible alternatives to cervical cerclage., (Copyright © 2016 Elsevier Masson SAS. All rights reserved.)
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- 2017
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22. [Open letter to the French College of Physicians - place of the multidisciplinary Prenatal Diagnosis Centers in the treatment of fetal diseases].
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Favre R, Jouannic JM, Laurichesse H, Oury JF, Vaast P, and Benachi A
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- Female, Humans, Pregnancy, Societies, Medical, Abortion, Legal, Fetal Diseases diagnosis, Prenatal Diagnosis
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- 2016
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23. Posterior urethral valves and vesicoureteral reflux: can prenatal ultrasonography distinguish between these two conditions in male fetuses?
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Chitrit Y, Bourdon M, Korb D, Grapin-Dagorno C, Joinau-Zoulovits F, Vuillard E, Paye-Jaouen A, Peycelon M, Belarbi N, Delezoide AL, Schmitz T, El Ghoneimi A, Sibony O, and Oury JF
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- Adult, Female, Humans, Male, Pregnancy, Retrospective Studies, Ultrasonography, Prenatal, Urethral Diseases congenital, Urethral Diseases diagnostic imaging, Vesico-Ureteral Reflux diagnostic imaging
- Abstract
Objective: The objective of the study was to evaluate prenatal sonographic signs that distinguish male fetuses with posterior urethral valves (PUV) from those with vesicoureteral reflux (VUR)., Methods: Prenatal data were retrospectively retrieved from all consecutive women delivering between 2003 and 2012 of a male newborn with a postnatal diagnosis of PUV or VUR. Prenatal parameters included fetal bladder characteristics, identification of a dilated posterior urethra, and change in shape and size in the fetal renal pelvis or ureter., Results: One hundred thirty-six women gave birth to a male newborn with a postnatal diagnosis of PUV (n = 49) or VUR (n = 87). The presence of posterior urethral dilatation [21 (42.9%) fetuses versus 0 (0%), p = 0.000], a thickened fetal bladder wall [37 (75.5%) vs 4 (4.6%), p = 0.000], and anhydramnios [14 (28.6%) vs 0, p = 0.000] were strongly associated with the postnatal diagnosis of PUV. Change in shape and size in the fetal renal pelvis or ureter was observed in 15 (17.2%) of 87 children with VUR versus 1 (2.0%) out of 49 with PUV (p = 0.010)., Conclusions: Prenatal ultrasound may differentiate with reasonable accuracy male fetuses with a postnatal diagnosis of PUV from those with VUR. © 2016 John Wiley & Sons, Ltd., (© 2016 John Wiley & Sons, Ltd.)
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- 2016
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24. Fetal urine biochemistry in antenatal Bartter syndrome: a case report.
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Rachid ML, Dreux S, Czerkiewicz I, Deschênes G, Vargas-Poussou R, Mahieu-Caputo D, Oury JF, and Muller F
- Abstract
Bartter syndrome is a severe inherited tubulopathy responsible for renal salt wasting, and hence electrolyte disorders and dehydration. Prenatally, it is characterized by severe polyhydramnios caused by fetal polyuria. We studied for the first time fetal urine in a Bartter syndrome case and demonstrated that the tubulopathy is already present at 24 weeks of gestation.
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- 2016
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25. Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone.
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Rachid ML, Dreux S, Pean de Ponfilly G, Vargas-Poussou R, Czerkiewicz I, Chevenne D, Oury JF, Deschênes G, and Muller F
- Subjects
- Bartter Syndrome metabolism, Biomarkers metabolism, Case-Control Studies, Female, Humans, Pregnancy, Pregnancy Trimester, Second, Retrospective Studies, Aldosterone metabolism, Amniotic Fluid metabolism, Bartter Syndrome diagnosis, Prenatal Diagnosis methods
- Abstract
Objective: Bartter syndrome is a severe inherited tubulopathy characterized by postnatal salt wasting, severe polyuria, dehydration, failure to thrive and secondary hyperaldosteronism. Prenatally, the disease is usually discovered following the onset of severe polyhydramnios in the second trimester. We studied amniotic fluid aldosterone concentration in Bartter syndrome and in controls., Methods: Amniotic fluid aldosterone was assayed by radioimmunoassay. We undertook a retrospective case-control study based on 36 cases of prenatally suspected and postnatally confirmed Bartter syndrome (22 with identified mutations): and 72 gestational age matched controls presenting with polyhydramnios and 72 without polyhydramnios. Amniotic fluid aldosterone was compared between the three groups., Results: The median amniotic fluid aldosterone concentration in the Bartter syndrome group (90 pg/mL) was not different from that in the controls with polyhydramnios (90 pg/mL, P = 0.33) or without polyhydramnios (87 pg/mL, P = 0.41)., Conclusion: Amniotic fluid aldosterone assay cannot be used for prenatal diagnosis of Bartter syndrome. © 2015 John Wiley & Sons, Ltd., (© 2015 John Wiley & Sons, Ltd.)
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- 2016
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26. Prevalence and outcome of teenage hospital births at the Buea Health District, South West Region, Cameroon.
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Egbe TO, Omeichu A, Halle-Ekane GE, Tchente CN, Egbe EN, and Oury JF
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- Adolescent, Adult, Apgar Score, Cameroon epidemiology, Cross-Sectional Studies, Female, Hospitalization statistics & numerical data, Humans, Infant, Low Birth Weight, Infant, Newborn, Obstetric Labor, Premature, Perineum injuries, Pregnancy, Prevalence, Young Adult, Pregnancy Outcome epidemiology, Pregnancy in Adolescence statistics & numerical data
- Abstract
Background: Teenage pregnancy is a high-risk condition that requires skilled antenatal care for good outcome. World estimates in 2008 report about 16 million births to adolescent mothers, most of them occurring in low and middle-income countries. In Cameroon, about 12% of all births are to adolescent mothers. This study determines the prevalence of hospital teenage deliveries in the Buea Health District and compares the delivery outcomes and demographic characteristics between pregnant teenage mothers (14-19) and adult mothers (20-29 years). We also identify factors associated with adverse pregnancy outcomes., Methods: We undertook a retrospective study of case files of patients who gave birth in the Buea Regional Hospital during the period 2009-2012, to determine the prevalence of hospital-delivered teenage pregnancies in the BHR. We also undertook a, cross-sectional study to compare the outcomes of 148 singleton adolescent births with 360 adult births in three health facilities in the Buea Health District during the period March 1 to August 31, 2013., Results: The prevalence of teenage births was 13.3%. The adverse fetal outcomes imputable to adolescent births were low birth weight (<2,500 g) (OR, 2.79; 95% CI, 1.28-6.09), preterm babies (<37 weeks) (OR: 1.85; 95% CI, 1.01-3.41), low 5 min Apgar score < 7 (OR: 1.66; 95% CI, 0.91-3.0). Adverse maternal outcomes associated with teenage pregnancies were mainly perineal tear (OR, 1.6; 95% CI, 0.95-2.7). Teenage births were not discovered in any significant way to cause preeclampsia/eclampsia, episiotomy, premature rupture of membranes and caesarean section. Maternal factors like age and gravidity were discovered to lead to adverse fetal outcomes in adolescents, while maternal factors like age, unemployment, marital status and gravidity were, for their part, directly responsible for adverse maternal outcomes in adolescents., Conclusion: Teenage pregnancies are quite prevalent in the Buea Health District, and hospital delivery common. Adolescent pregnancies are more likely to lead to adverse fetal and maternal outcomes than adult pregnancies.
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- 2015
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27. [Management of shoulder dystocia].
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Le Ray C and Oury JF
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- Birth Injuries prevention & control, Dystocia diagnosis, Extraction, Obstetrical methods, Extraction, Obstetrical standards, Female, Humans, Infant, Newborn, Practice Patterns, Physicians' standards, Pregnancy, Delivery, Obstetric methods, Delivery, Obstetric standards, Dystocia therapy, Practice Guidelines as Topic, Shoulder
- Abstract
Objective: The objective of this review is to propose recommendations on the management of shoulder dystocia., Materials and Methods: The PubMed database, the Cochrane Library and the recommendations from the foreign obstetrical societies or colleges have been consulted., Results: In case of shoulder dystocia, if the obstetrician is not present at delivery, he should be systematically informed as quickly as possible (professional consensus). A third person should also be called for help in order to realize McRoberts maneuver (professional consensus). The patient has to be properly installed in gynecological position (professional consensus). It is recommended not to pull excessively on the fetal head (grade C), do not perform uterine expression (grade C) and do not realize inverse rotation of the fetal head (professional consensus). McRoberts maneuver, with or without a suprapubic pressure, is simple to perform, effective and associated with low morbidity, thus, it is recommended in the first line (grade C). Regarding the maneuvers of the second line, the available data do not suggest the superiority of one maneuver in relation to another (grade C). We proposed an algorithm; however, management should be adapted to the experience of the operator. If the posterior shoulder is engaged, Wood's maneuver should be performed preferentially; if the posterior shoulder is not engaged, delivery of the posterior arm should be performed preferentially (professional consensus). Routine episiotomy is not recommended in shoulder dystocia (professional consensus). Other second intention maneuvers are described. It seems necessary to know at least two maneuvers to perform in case of shoulder dystocia unresolved by the maneuver McRoberts (professional consensus)., Conclusion: All physicians and midwives should know and perform obstetric maneuvers if needed quickly but without precipitation., (Copyright © 2015. Published by Elsevier Masson SAS.)
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- 2015
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28. Amniotic fluid biochemistry in isolated polyhydramnios: a series of 464 cases.
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Allaf B, Dreux S, Schmitz T, Czerkiewicz I, Le Vaillant C, Benachi A, Houfflin-Debarge V, Maréchaud M, Oury JF, and Muller F
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- Amniotic Fluid chemistry, Female, Humans, Polyhydramnios genetics, Pregnancy, Amniotic Fluid metabolism, Chromosome Disorders complications, Polyhydramnios metabolism
- Abstract
Objective: To report amniotic fluid biochemistry in a large series of 464 cases of isolated polyhydramnios in order to analyze both the outcome and the benefit of amniotic fluid biochemistry., Methods: This retrospective cohort (2008-2012) included polyhydramnios cases for which amniotic fluid samples were sent to our laboratory for biochemical analysis (total protein, alpha-fetoprotein and gamma-glutamyl transpeptidase) so as to investigate the etiology. A Bartter index and an esophageal atresia index were defined. Final diagnoses were compared between groups to determine the association between these indices and the frequency and type of adverse outcomes., Results: Among 464 cases of polyhydramnios considered isolated at ultrasound examination, severe fetal diseases were diagnosed in 136 (29.3%): 46 (9.9%) chromosomal anomalies, 28 (6%) Bartter syndrome, 23 (4.95%) other genetic syndromes, 22 (4.75%) swallowing disorders and 17 (3.7%) uro-nephrological disorders. Amniotic fluid biochemistry identified esophageal atresia with 66.6% (10/15) sensitivity and 100% specificity and Bartter syndrome with 85.7% (24/28) sensitivity and 84.2% specificity., Conclusion: Isolated polyhydramnios is associated with a high risk of severe fetal diseases. Molecular cytogenetics and amniotic fluid biochemistry are helpful tools., (© 2015 John Wiley & Sons, Ltd.)
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- 2015
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29. Fetal urine biochemistry at 13-23 weeks of gestation in lower urinary tract obstruction: criteria for in-utero treatment.
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Abdennadher W, Chalouhi G, Dreux S, Rosenblatt J, Favre R, Guimiot F, Salomon LJ, Oury JF, Ville Y, and Muller F
- Subjects
- Adolescent, Adult, Biomarkers urine, Female, Fetal Diseases therapy, Fetal Diseases urine, Gestational Age, Humans, Linear Models, Pregnancy, Pregnancy Trimester, First, Pregnancy Trimester, Second, Prognosis, Renal Insufficiency diagnosis, Renal Insufficiency etiology, Renal Insufficiency prevention & control, Retrospective Studies, Sensitivity and Specificity, Urethral Obstruction etiology, Urethral Obstruction therapy, Urethral Obstruction urine, Young Adult, Duodenum abnormalities, Fetal Diseases diagnosis, Fetal Therapies, Prenatal Diagnosis methods, Urethral Obstruction diagnosis, Urinary Bladder abnormalities
- Abstract
Objectives: To assess the value of fetal urine biochemistry before 23 weeks of gestation in cases of lower urinary tract obstruction (LUTO) to refine prognosis and to select potential candidates for in-utero intervention., Methods: This was a retrospective study including 72 cases of LUTO with fetal urine sampled before 23 weeks and assayed for total protein, β-2-microglobulin, sodium, chloride, calcium, phosphorus, glucose and gamma-glutamyl transpeptidase (GGTP). Two groups were defined according to renal outcome: 1) bilateral renal dysplasia on histological examination or renal failure at birth; 2) normal postnatal renal function or histologically normal appearance of the kidneys. Correlations between fetal urinary biochemical markers and postnatal renal function were studied., Results: LUTO was isolated in 56/72 (77.8%) cases and was associated with other malformations in 16/72 (22.2%) cases. High GGTP levels (236 IU/L vs 5 IU/L; P < 0.0001) were observed in fetal urine in the five cases of urodigestive fistula. A significant difference between outcome groups was observed for β-2-microglobulin (P = 0.0017), sodium (P = 0.0008), chloride (P = 0.0028) and calcium (P = 0.0092) but not for protein, glucose or phosphorus. Sensitivity and specificity in defining a poor renal prognosis were 80.6% and 89% for β-2-microglobulin, 61.3% and 100% for sodium and 64.5% and 100% for calcium, respectively., Conclusions: Fetal urinalysis before 23 weeks of gestation allowed distinction between three groups: 1) fetuses with normal urine biochemistry for which fetal therapy should be discussed; 2) fetuses with abnormal urine biochemistry for which prognosis for renal outcome is poor and for which the benefit of fetal therapy is likely to be compromised; 3) fetuses with urodigestive fistula., (Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.)
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- 2015
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30. Non-invasive prenatal testing for trisomy 21 based on analysis of cell-free fetal DNA circulating in the maternal plasma.
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Alberti A, Salomon LJ, Le Lorc'h M, Couloux A, Bussières L, Goupil S, Malan V, Pelletier E, Hyon C, Vialard F, Rozenberg P, Bouhanna P, Oury JF, Schmitz T, Romana S, Weissenbach J, Vekemans M, and Ville Y
- Subjects
- Adult, Amniocentesis, Chorionic Villi Sampling, Cohort Studies, Down Syndrome diagnosis, Female, Humans, Karyotyping, Pregnancy, Pregnancy Trimester, First, Pregnancy Trimester, Second, Prenatal Diagnosis, Prospective Studies, Real-Time Polymerase Chain Reaction, Risk Assessment, DNA blood, Down Syndrome blood
- Abstract
Objective: By-the-book implementation of non-invasive prenatal test and clinical validation for trisomy 21., Study Design: Publicly funded prospective study of 225 cases. Women at risk for trisomy 21 > 1/250 based on combined ultrasound and serum markers during first or second trimester were eligible following an informed consent. The technique was established from the available literature and performed on 10 mL of venous blood collected prior to chorionic villus sampling or amniocentesis. Investigators were blinded to the fetal karyotype. Results were expressed in Z-scores of the percentage of each chromosome., Results: Among 976 eligible cases, 225 were processed: 8 were used for pretesting phase and 23 to build a reference set. One hundred thirty six euploid cases and 47 with trisomy 21 were then run randomly. Eleven cases yielded no result (4.8%). Z-scores were above 3 (7.58+/-2.41) for chromosome 21 in all 47 trisomies and in none of the euploid cases (0.11+/-1.0). Z-scores were within normal range for the other chromosomes in both groups. Using a cut-off of 3, sensitivity and specificity were of 100% 95% CI [94.1, 100] and 100% 95% CI [98, 100], respectively., Conclusion: Non-invasive prenatal test for trisomy 21 is a robust strategy that can be translated from seminal publications. Publicly funded studies should refine its indications and cost-effectiveness in prenatal screening and diagnosis. © 2015 John Wiley & Sons, Ltd., (© 2015 John Wiley & Sons, Ltd.)
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- 2015
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31. Identification of women at high risk for severe perineal lacerations.
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Schmitz T, Alberti C, Andriss B, Moutafoff C, Oury JF, and Sibony O
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- Adult, Case-Control Studies, Female, Humans, Labor Presentation, Obstetric Labor Complications etiology, Parity, Pregnancy, Retrospective Studies, Risk Factors, Young Adult, Birth Weight, Episiotomy, Extraction, Obstetrical adverse effects, Lacerations epidemiology, Lacerations etiology, Perineum injuries
- Abstract
Objectives: To evaluate the frequency and to identify the risk factors of severe perineal lacerations and the subgroup of women exposed to the highest risk for these complications., Study Design: We conducted a case-control study in a large cohort of women for which vaginal delivery management consisted in systematic perineal support and restrictive use of mediolateral episiotomy. The case group comprised women with severe perineal lacerations while the control group comprised women without severe perineal lacerations. Maternal, labor, delivery and neonatal characteristics were analyzed in logistic regression models and a classification and regression tree (CART) was constructed., Results: Between 2000 and 2009, 19,442 women delivered vaginally in our centre, 88 of whom had severe perineal lacerations (0.5%). Instrumental delivery (aOR 4.17, 95% CI 2.51-6.90), nulliparity (aOR 2.58, 95% CI 1.55-4.29), persistent posterior orientation (aOR 2.24, 95% CI 1.02-4.94) and increased birth weight (aOR 1.28, 95% CI 1.03-1.60) were independent risk factors of severe perineal lacerations whereas mediolateral episiotomy had a protective effect (aOR 0.38, 95% CI 0.23-0.63). CART identified instrumental delivery of neonates smaller than 4500 g in persistent posterior orientation in nullipara without mediolateral episiotomy as the clinical situation associated with the highest risk of severe perineal lacerations (12.5%). Conversely, patients with the lowest risk (0.1%) were those delivering spontaneously, neonates larger than 3200 g after mediolateral episiotomy., Conclusions: Instrumental delivery, nulliparity, persistent posterior orientation and increased birth weight are independently associated with severe perineal lacerations. Restrictive use of mediolateral episiotomy protects against severe perineal lacerations especially in case of instrumental delivery., (Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.)
- Published
- 2014
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32. Trachelorraphy in cases of recurrent second trimester loss and prior failed vaginal cerclage.
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Korb D, Oury JF, and Sibony O
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- Abortion, Habitual surgery, Adult, Female, Humans, Pregnancy, Pregnancy Trimester, Second, Prospective Studies, Retrospective Studies, Abortion, Habitual prevention & control, Cerclage, Cervical methods, Cervix Uteri surgery, Live Birth, Premature Birth prevention & control, Uterine Cervical Incompetence surgery
- Abstract
Objective: To evaluate the obstetric results of trachelorraphy in the prevention of recurrent second trimester loss in cases of prior failed vaginal cerclage., Study Design: Data were collected retrospectively and prospectively from medical records. The analysis examined data for 18 women who underwent trachelorraphy between 2004 and 2013 at a tertiary referral unit in France. All patients in this high-risk population had a history of two or more second trimester losses, or one second trimester loss and one preterm labour, and at least one prior failed transvaginal cerclage. The main outcome measures were: livebirth rate; rate of second trimester loss; and surgical complications., Results: Twenty pregnancies were conceived in 16 patients following trachelorraphy. Three patients experienced two pregnancies. Among the 20 pregnancies, there was one case of fetal loss in the first trimester; this pregnancy was excluded from the analysis. Of the remaining 19 pregnancies, there were nine (47%) term deliveries (after 37 weeks of gestation), seven (32%) preterm deliveries and three (16%) second trimester losses. The overall fetal survival rate was 84%. Surgical outcomes were excellent, with no complications., Conclusion: Trachelorraphy is a safe, reproducible, easy-to-learn procedure for the prevention of recurrent second trimester loss in cases of prior failed vaginal cerclage. The procedure has encouraging and favourable perinatal outcomes in patients with a poor obstetric history., (Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.)
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- 2014
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33. Cloaca in discordant monoamniotic twins: prenatal diagnosis and consequence for fetal lung development.
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Chitrit Y, Vuillard E, Khung S, Belarbi N, Guimiot F, Muller F, Ghoneimi AE, and Oury JF
- Abstract
Objective Describe a case of cloaca prenatally diagnosed in one of a set of monoamniotic twins. Study Design Retrospective review of a case. Results Cloaca is one of the most complex and severe degrees of anorectal malformations in girls. We present a discordant cloaca in monoamniotic twins. Fetal ultrasound showed a female fetus with a pelvic midline cystic mass, a phallus-like structure, a probable anorectal atresia with absence of anal dimple and a flat perineum, and renal anomalies. The diagnosis was confirmed by fetal magnetic resonance imaging postnatally. Conclusions The rarity of the malformation in a monoamniotic pregnancy, the difficulties of prenatal diagnosis, the pathogenic assumptions, and the consequences of adequate amniotic fluid for fetal lung development are discussed.
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- 2014
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34. Diet or medically treated gestational diabetes: is there any difference for obstetrical and neonatal complications? A French cohort study.
- Author
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Blachier A, Alberti C, Korb D, Schmitz T, Patrick V, Christine B, Oury JF, and Sibony O
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- Adult, Female, France epidemiology, Humans, Infant, Newborn, Infant, Newborn, Diseases epidemiology, Male, Obstetric Labor Complications epidemiology, Pregnancy, Prospective Studies, Diabetes, Gestational diet therapy, Diabetes, Gestational drug therapy, Hypoglycemic Agents therapeutic use, Infant, Newborn, Diseases etiology, Obstetric Labor Complications etiology
- Abstract
Objective: The aim of the present study was to determine specific obstetrical and neonatal complications associated with diet-treated gestational diabetes (DTGD) and medically treated gestational diabetes (MTGD)., Methods: This is a prospective cohort study of women followed in the Robert Debré Hospital (France, Paris) and who have given birth between 1 January, 2004, and 19 November, 2010. Clinical, biological, maternal and neonatal data were reported in the maternity database. Associations between obstetrical and neonatal complications and gestational diabetes were evaluated by estimating odd ratios (ORs) and their 95% CIs, using a logistic regression model., Results: 16,244 pregnancies were included in the study. 1515 (9.3%) women had gestational diabetes: 1108 (7.3%) had DTGD, 243 (1.7%) had MTGD. After full adjustment, MTGD was associated with an increased risk of nonscheduled cesarean (ORnonscheduled=2.3; 95% CI: 1.6-3.3; P<0.001) while DTGD was not (ORnonscheduled=1.0; 95% CI: 0.8-1.3; P<0.96). Clinical macrosomia was positively associated with DTGD (OR=2; 95% CI: 1.7-2.4; P<0.0001) or MTGD (OR=2.9; 95% CI: 2.1-3.9; P<0.0001)., Conclusion: This study confirms that macrosomia is the main complication of DTGD. By contrast, DTGD was not associated with neonatal hypoglycemia and cesarean, while these complications were associated with MTGD.
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- 2014
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35. Apparent diffusion coefficient measurements of the fetal brain during the third trimester of pregnancy: how reliable are they in clinical practice?
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Sartor A, Arthurs O, Alberti C, Belarbi N, Tilea B, Boizeau P, Oury JF, Elmaleh-Berges M, Gressens P, Sebag G, and Alison M
- Subjects
- Adult, Basal Ganglia pathology, Cerebellum pathology, Cohort Studies, Female, Frontal Lobe pathology, Humans, Male, Occipital Lobe pathology, Pons pathology, Pregnancy, Reproducibility of Results, Retrospective Studies, Brain pathology, Diffusion Magnetic Resonance Imaging, Fetus pathology, Nerve Fibers, Myelinated pathology, Pregnancy Trimester, Third
- Abstract
Objective: The objective of this study was to determine the reproducibility, the inter-hemispheric difference and the reference apparent diffusion coefficient (ADC) values of the fetal brain according to gestational age., Method: One hundred and one normal fetal brain (29.4-38.4 weeks) were analysed with diffusion-weighted MR imaging. ADC was measured in frontal white matter (FWM), occipital white matter (OWM), centrum semi-ovale (CSO), basal ganglia (BG), cerebellar hemisphere (CBM) and pons. ADC ratios (fronto-occipital, fronto-cerebellar and occipito-cerebellar) were calculated. Inter-observer reproducibility was assessed on 27 studies, using intra-class correlation coefficient and Bland-Altman plot. Inter-hemispheric difference was evaluated with Bland-Altman plot. Gestation-specific reference intervals were estimated for each brain region., Results: Inter-observer bias was near zero. Limits of agreement (LOA) were clinically acceptable (-0.17; 0.20 to -0.38; 0.31 × 10(-3) mm(2) /s) for all brain regions except for CSO and pons. Inter-hemispheric bias was near zero. Smallest LOA were for FWM (±0.09 mm(2) /s) and BG (±0.019 mm(2) /s). ADC values decreased, whereas ADC ratio increased with gestational age, reflecting normal maturation. Fronto-occipital, fronto-cerebellar and occipito-cerebellar ratios were consistently above 0.8, 1 and 1, respectively., Conclusion: The fetal brain regions with the highest reproducibility and smallest inter-hemispheric differences are the frontal, occipital, cerebellar white matter and BG. ADC ratio could be useful to assess differential temporo-spatial maturation., (© 2013 John Wiley & Sons, Ltd.)
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- 2014
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36. Prenatal pelvic MRI: additional clues for assessment of urogenital obstructive anomalies.
- Author
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Capito C, Belarbi N, Paye Jaouen A, Leger J, Carel JC, Oury JF, Sebag G, and El-Ghoneimi A
- Subjects
- Cloaca abnormalities, Diagnosis, Differential, Female, Humans, Pregnancy, Pregnancy Trimester, Third, Magnetic Resonance Imaging, Ultrasonography, Prenatal, Urogenital Abnormalities diagnostic imaging
- Abstract
Objective: Ultrasound prenatal evaluation of pelvic cystic mass can be challenging. After having ruled out a cloaca anterior to a large hydrocolpos, it is important to differentiate between combined urogenital anomalies such as urogenital sinus and isolated genital anomalies., Patients and Methods: We reviewed the charts of 13 women referred for a third trimester pelvic MRI for cystic pelvic mass discovered in second trimester ultrasound. We evaluated MRI compared with postnatal surgical findings in order to determine clues for improving prenatal diagnoses., Results: MRI excluded the diagnosis of cloacal malformation in nine cases with no false negative. Once a cloaca is ruled out, a different signal between the bladder and the hydrocolpos on T2 sequences is in favor of an isolated genital obstruction. In contrast, in case of urogenital sinus, the vagina is filled with a mixture of genital secretions and urine, which gives it an MRI signal similar to the bladder on T2 sequences., Conclusion: Third trimester fetal MRI is an essential exam for characterization of pelvic cystic mass diagnosed by ultrasound. This exam appears valuable for invalidating the diagnosis of cloacal malformation and for differentiating between isolated genital obstruction and urogenital sinus., (Copyright © 2013 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)
- Published
- 2014
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37. Outcome following prenatal diagnosis of severe bilateral renal hypoplasia.
- Author
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Spaggiari E, Stirnemann JJ, Heidet L, Dreux S, Ville Y, Oury JF, Delezoide AL, and Muller F
- Subjects
- Abortion, Induced, Amniotic Fluid, Female, Gestational Age, Humans, Infant, Newborn, Kidney Diseases diagnosis, Kidney Diseases physiopathology, Male, Oligohydramnios, Pregnancy, Prognosis, Renal Insufficiency etiology, Ultrasonography, Prenatal, Fetal Blood chemistry, Kidney abnormalities, Prenatal Diagnosis, beta 2-Microglobulin blood
- Abstract
Objective: The aim of this research was to evaluate the outcome and prognostic value of fetal serum β2-microglobulin in case of prenatal diagnosis of severe bilateral renal hypoplasia., Methods: Cases of hypoplastic kidneys were detected on ultrasound and referred to our laboratory for determination of fetal blood β2-microglobulin, over a 12-year period. Prenatal prognostic assessment was based upon amniotic fluid volume and fetal serum β2-microglobulin (cut-off: 5 mg/L). Outcome measures were postnatal renal function or renal pathological features when termination of pregnancy (TOP) and genetic studies were performed., Results: A total of 34 cases were identified; 13 (38%) were liveborn and 21 (62%) underwent TOP. Renal hypoplasia was confirmed postnatally in all cases. Oligohydramnios/anhydramnios was observed in 30/34 (88%) cases. Associated genetic or anatomical anomalies were found in 8/34 (24%) cases. Renal function of liveborn infants was normal in 4/13 cases. Renal lesions were observed in all TOPs (21/21 cases). Overall, 30/34 (88.2%) cases had a poor outcome. β2-microglobulin accurately predicts poor renal outcome in 27/31 (87.1%) cases. β2-microglobulin was not interpretable in three cases due to amniotic fluid contamination. The prognostic value of β2-microglobulin was similar to that of amniotic fluid volume assessment., Conclusion: Hypoplastic kidneys complicated by oligohydramnios/anhydramnios are associated with poor outcome. Fetal serum β2-microglobulin and oligohydramnios both predicted poor outcome., (© 2013 John Wiley & Sons, Ltd.)
- Published
- 2013
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- View/download PDF
38. Outcome and etiologies of fetal megacystis according to the gestational age at diagnosis.
- Author
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Bornes M, Spaggiari E, Schmitz T, Dreux S, Czerkiewicz I, Delezoide AL, El-Ghoneimi A, Oury JF, and Muller F
- Subjects
- Congenital Abnormalities embryology, Duodenum diagnostic imaging, Female, Fetal Diseases diagnosis, Humans, Male, Pregnancy, Pregnancy Trimester, First, Prognosis, Retrospective Studies, Urinary Bladder diagnostic imaging, Urologic Diseases complications, Urologic Diseases embryology, Vesico-Ureteral Reflux complications, Vesico-Ureteral Reflux embryology, Duodenum abnormalities, Fetal Diseases diagnostic imaging, Fetal Diseases etiology, Gestational Age, Pregnancy Outcome, Ultrasonography, Prenatal, Urinary Bladder abnormalities
- Abstract
Objective: To investigate the gestational age-specific outcomes and the different etiologies of megacystis diagnosed at screening ultrasound., Methods: A retrospective single-center study was conducted between 1989 and 2009. We identified all consecutive cases of megacystis prenatally diagnosed during routine ultrasound screening. Outcome, final diagnosis, and renal function were recorded., Results: Eighty-four patients were included. An isolated lower urinary tract obstruction was observed in 38/84 (45.2%), ureterovesical reflux in 9/84 (10.7%), an associated congenital abnormality in 32/84 (38.1%) and a normal bladder in 5/84 (6%). Increased gestational age at diagnosis was correlated with an increased rate of live born children (P < 0.01). No cases of megacystis diagnosed in the first trimester were born alive. When diagnosis of posterior urethral valves (PUV) was made in the third trimester, the ultimate survival rate was 11/13 (84.6%) compared with 3/12 (25%) for a diagnosis made in the second trimester (P = 0.02)., Conclusion: Lower urinary tract obstruction is the main etiology of megacystis. Megacystis can also be part of more complex malformations. Outcome of megacystis detected in the first trimester is poor. PUV detected in the third trimester had a better overall survival rate than PUV detected in the second trimester., (© 2013 John Wiley & Sons, Ltd.)
- Published
- 2013
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39. Cervical ripening with low-dose prostaglandins in planned vaginal birth after cesarean.
- Author
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Schmitz T, Pourcelot AG, Moutafoff C, Biran V, Sibony O, and Oury JF
- Subjects
- Adult, Cervix Uteri drug effects, Drug Administration Schedule, Female, Humans, Pregnancy, Retrospective Studies, Trial of Labor, Cervical Ripening drug effects, Labor, Induced methods, Oxytocics, Prostaglandins, Uterine Rupture prevention & control, Vaginal Birth after Cesarean
- Abstract
Objectives: To compare uterine rupture, maternal and perinatal morbidity rates in women with one single previous cesarean after spontaneous onset of labor or low-dose prostaglandin-induced cervical ripening for unfavourable cervix., Study Design: This was a retrospective cohort study of 4,137 women with one single previous cesarean over a 22-year period. Inpatient prostaglandin administration consisted in single daily local applications., Results: Vaginal delivery was planned for 3,544 (85.7%) patients, 2,704 (76.3%) of whom delivered vaginally (vaginal birth after Cesarean (VBAC) rate = 65.4%). Among women receiving prostaglandins (n=515), 323 (62.7%) delivered vaginally. Uterine rupture (0.7% compared with 0.8%, OR 1.1, 95% CI 0.4-3.4, p=0.88), maternal (0.9% compared with 1.2%, OR 1.3, 95% CI 0.5-3.2, p=0.63) and perinatal (0.3% compared with 0.8%, OR 2.4, 95% CI 0.7-8.5, p=0.18) morbidity rates did not differ significantly between patients with spontaneous onset of labor and those receiving prostaglandins, nor did these rates differ according to the planned mode of delivery., Conclusion: In comparison with patients with spontaneous labor, inducing cervical ripening with low-dose prostaglandins in case of unfavourable cervix is not associated with appreciable increase in uterine rupture, maternal or perinatal morbidity.
- Published
- 2013
- Full Text
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40. Specific biochemical amniotic fluid pattern of fetal isolated esophageal atresia.
- Author
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Muller C, Czerkiewicz I, Guimiot F, Dreux S, Salomon LJ, Khen-Dunlop N, Bonnard A, Schmitz T, Oury JF, and Muller F
- Subjects
- Esophageal Atresia metabolism, Esophageal Atresia pathology, Half-Life, Humans, Immunohistochemistry, Karyotyping, Retrospective Studies, Statistics, Nonparametric, Amniotic Fluid chemistry, Biomarkers chemistry, Esophageal Atresia diagnosis, Leucyl Aminopeptidase analysis, Prenatal Diagnosis methods, Proteins analysis, gamma-Glutamyltransferase analysis
- Abstract
Background: Perinatal care of esophageal atresia (EA) may be improved by prenatal diagnosis. Ultrasound findings (polyhydramnios and/or nonvisualization of fetal stomach) lead to a detection rate of ~50%. An amniotic fluid (AF) biochemical pattern characterized by high total protein, γ-glutamyl transpeptidase (GGTP), and normal l-leucine-aminopeptidase (AMP) leads to a 100% detection rate. The aim of this study was to explain this specific pattern., Methods: On the basis of enzyme activities assay, the following four objectives were sought: (i) comparing AF markers between EA and other digestive tract atresias, (ii) determining local GGTP synthesis in the esophagus (immunohistobiochemistry), (iii) determining the presence of a specific AF-AMP activity inhibitor, and (iv) comparing AF-AMP and AF-GGTP half-lives., Results: The AF-EA pattern was similar to that observed in upper duodenal atresia (above the Oddi sphincter). No local synthesis of GGTP was observed in the esophagus. No AF-AMP activity inhibitor was found. AF-GGTP had a longer half-life than AF-AMP., Conclusion: Due to the swallowing anomaly observed in EA, GGTP and AMP values physiologically observed at 18 wk will decrease on the basis of the half-lives of markers, with a flat slope for GGTP and a sharp slope for AMP, therefore explaining the differences observed in the AF-EA pattern.
- Published
- 2013
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41. Fetal airway management on placental support: limitations and ethical considerations in seven cases.
- Author
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Barthod G, Teissier N, Bellarbi N, Viala P, Oury JF, Dray G, Vuillard E, Michel J, and Van Den Abbeele T
- Subjects
- Airway Obstruction surgery, Female, Fetal Diseases surgery, Head and Neck Neoplasms congenital, Head and Neck Neoplasms surgery, Humans, Infant, Newborn, Pregnancy, Retrospective Studies, Teratoma congenital, Teratoma surgery, Airway Obstruction congenital, Head and Neck Neoplasms complications, Placenta, Teratoma complications
- Abstract
The aim of this study was to evaluate the paediatric and maternal outcome after ex utero intrapartum treatment (EXIT). A retrospective review was carried out of the medical charts (gestational age, circumstances of diagnosis, multidisciplinary prenatal decision, date of surgery, paediatric and maternal outcome) of all the fetuses eligible for/delivered via the EXIT procedure in our paediatrics and obstetrics tertiary care and teaching centre, between October 2004 and May 2011. Seven fetuses with cervical teratoma, epignathus tumour or congenital high airway obstruction syndrome (CHAOS) were included in our study. Two pregnancies were terminated and five fetuses were delivered alive. The airway was secured in all five cases (two endotracheal intubations and three tracheostomies). No maternal complications were observed. On average, babies were delivered at 32 gestational weeks, and spent 31 days in the intensive care unit. All but one baby were ventilated for 18 days. Long-term paediatric outcome was favourable. It is concluded that airway management by the EXIT procedure has become an efficient technique. A multidisciplinary prenatal assessment is essential in order to select appropriate cases.
- Published
- 2013
- Full Text
- View/download PDF
42. [Analysis of fetal heart rate abnormalities occurring within one hour after laying of epidural analgesia].
- Author
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Korb D, Bonnin M, Michel J, Oury JF, and Sibony O
- Subjects
- Apgar Score, Bradycardia epidemiology, Cesarean Section statistics & numerical data, Female, Humans, Hydrogen-Ion Concentration, Labor, Obstetric, Pregnancy, Retrospective Studies, Umbilical Arteries, Analgesia, Epidural adverse effects, Analgesia, Obstetrical adverse effects, Heart Rate, Fetal drug effects
- Abstract
Objectives: The objective of this study is to classify abnormalities of fetal heart rate (FHR) occurring in the first hour after performing the epidural analgesia, and to assess the impact of these abnormalities on delivery and on after-birth neonatal state., Patients and Methods: Retrospective study of 6676 patients continuously from 1 January 2007 to 31 December 2010 who benefited, during the labor, of epidural analgesia. Seven hundred and sixty (14,1%) presented anomalies of FHR in the hour following the laying of epidural (group 1), and 5916 showed no abnormalities of the RCF (group 2)., Results: Among the 760 anomalies of the FHR in the hour following the laying of epidural, 319 (42%) showed prolonged decelerations, 169 (22.2%) variable decelerations, 122 (16.1%) early decelerations, 110 (14.5%) late decelerations and 40 bradycardia (5.3%). In the group 1, incidence of caesarean delivery was 21.4% (163 patients); in group 2, it was 9.63% (P<0.002). In group 1, the umbilical artery pH was less than 7.20 in 13,6% of patients, whereas in group 2, the prevalence was only 6,5% (P<0.002). There is no statistically significant differences on Apgar score between the two groups., Conclusion: This study helped to characterize anomalies in the FHR following epidural. There is an increase of obstetric interventions. There is no impact on neonatal clinical state. The administration of systematic ephedrine shall be investigated to reduce these interventions., (Copyright © 2013 Elsevier Masson SAS. All rights reserved.)
- Published
- 2013
- Full Text
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43. [Epignathus teratoma: diagnostic and neonatal management; a case report].
- Author
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Dray G, Olivier C, Teissier N, Vuillard E, Michel J, Farnoux C, Sibony O, and Oury JF
- Subjects
- Adult, Airway Obstruction mortality, Airway Obstruction prevention & control, Cesarean Section, Female, Gestational Age, Humans, Infant, Newborn, Larynx, Nose, Pregnancy, Prognosis, Tongue, Airway Obstruction surgery, Fetal Diseases diagnostic imaging, Teratoma diagnostic imaging, Teratoma surgery, Ultrasonography, Prenatal
- Abstract
Epignathus teratoma is a rare tumor whose prognosis essentially depends on its resectability and on neonatal care. When it is undiagnosed prenatally, mortality is close to 100 % at birth, because of obstruction of the upper airways. We present a case of epignathus teratoma detected during obstetrical ultrasound screening. Diagnosis enabled planning for a safe delivery in a suitable multidisciplinary unit and use of the EXIT procedure., (Copyright © 2012 Elsevier Masson SAS. All rights reserved.)
- Published
- 2013
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44. [Terminations of pregnancy for maternal indications in the Paris area: a retrospective multicenter study in the period between the 2001 French law on termination of pregnancy and the new bioethics law].
- Author
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Piel B, Azria E, Oury JF, Carbillon L, and Mandelbrot L
- Subjects
- Adult, Bioethics, Female, Gestational Age, Humans, Incidence, Legislation, Medical ethics, Paris epidemiology, Pregnancy, Pregnancy Trimester, First, Pregnancy Trimester, Second, Retrospective Studies, Young Adult, Abortion, Therapeutic ethics, Abortion, Therapeutic statistics & numerical data, Pregnancy Complications epidemiology, Pregnancy Complications therapy
- Abstract
Objective: To analyze the reasons for terminations of pregnancy (TOP) in cases of "severe jeopardy of the woman's health" beyond the limit of 14weeks, performed under the 2001 French law on abortion which extended these indications, until a new bioethics law was promulgated in 2011., Methods: A retrospective observational study of all TOP performed for maternal indications (excluding premature membrane rupture), following a medical decision, from 2001 to 2010 in four academic maternity units in northern Paris., Results: One hundred and three patients were included. The incidence was approximately 1 per 1000 births. The mean gestational age at the time of the TOP was 21.5weeks (range 7.7-34.7); 7% occurred before 14weeks and 35% after 24weeks. Indications were: (1) maternal diseases (22%), (2) psychosocial indications (21%) in majority multiple drug addictions, (3) psychiatric indications (21%), (4) obstetrical complications (mainly preeclampsia) before fetal viability (20%) and (5) rape (16%) mostly on minors. In 16% of cases, several indications were associated., Conclusion: TOP for maternal indications remains exceptional, including for psychosocial indications. Our findings suggest that the French law on TOP was not misused in these centers to permit abortion on demand beyond the limit of 14weeks., (Copyright © 2013 Elsevier Masson SAS. All rights reserved.)
- Published
- 2013
- Full Text
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45. Mowat-Wilson syndrome in a fetus with antenatal diagnosis of short corpus callosum: advocacy for standard autopsy.
- Author
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Spaggiari E, Baumann C, Alison M, Oury JF, Belarbi N, Dupont C, Guimiot F, and Delezoide AL
- Subjects
- Abnormalities, Multiple diagnosis, Abnormalities, Multiple genetics, Adult, Agenesis of Corpus Callosum genetics, Autopsy, Corpus Callosum pathology, Facies, Female, Heterozygote, Hirschsprung Disease genetics, Homeodomain Proteins genetics, Humans, Infant, Newborn, Intellectual Disability genetics, Magnetic Resonance Imaging, Male, Microcephaly genetics, Mutation, Phenotype, Pregnancy, Prenatal Diagnosis, Repressor Proteins genetics, Zinc Finger E-box Binding Homeobox 2, Agenesis of Corpus Callosum diagnosis, Hirschsprung Disease diagnosis, Intellectual Disability diagnosis, Microcephaly diagnosis
- Abstract
Mowat-Wilson syndrome (MWS) is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene rarely diagnosed prenatally and with little fetal description reported. It is mainly characterized by moderate-to-severe intellectual disability, epilepsy, facial dysmorphism and various malformations including Hirschsprung disease and corpus callosum anomalies. Here we report a fetal case of MWS well described, suspected at standard autopsy. The association of a corpus callosum hypoplasia with a histological Hirschsprung disease and a typical facial gestalt allowed the guiding of genetic testing. Classical fetopathological examination still keeps indications in cases of syndromic association in the era of virtual autopsy., (Copyright © 2013 Elsevier Masson SAS. All rights reserved.)
- Published
- 2013
- Full Text
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46. Ultrasound detection of eyelashes: a clue for prenatal diagnosis of Cornelia de Lange syndrome.
- Author
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Spaggiari E, Vuillard E, Khung-Savatovsky S, Muller F, Oury JF, Delezoide AL, and Guimiot F
- Subjects
- Cell Cycle Proteins, De Lange Syndrome complications, De Lange Syndrome genetics, Female, Fetal Diseases genetics, Hernia, Diaphragmatic complications, Hernia, Diaphragmatic diagnostic imaging, Hernias, Diaphragmatic, Congenital, Humans, Pregnancy, Pregnancy Trimester, Second, Proteins genetics, De Lange Syndrome diagnostic imaging, Eyelashes diagnostic imaging, Fetal Diseases diagnostic imaging, Prenatal Diagnosis methods, Ultrasonography, Prenatal methods
- Published
- 2013
- Full Text
- View/download PDF
47. Is fetal cerebral MRI worthwhile in antenatally diagnosed isolated cleft lip with or without palate?
- Author
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de Milly MN, Alison M, Arthurs O, Vuillard E, Oury JF, Elmaleh-Berges M, Sebag G, and Belarbi N
- Subjects
- Abnormalities, Multiple, Cerebellar Diseases complications, Cerebellum abnormalities, Cleft Lip diagnostic imaging, Cleft Palate diagnostic imaging, Eye Abnormalities complications, Female, Holoprosencephaly complications, Humans, Kidney Diseases, Cystic complications, Magnetic Resonance Imaging, Pituitary Gland abnormalities, Pregnancy, Prenatal Diagnosis, Retina abnormalities, Retrospective Studies, Ultrasonography, Cerebellar Diseases diagnosis, Cerebrum abnormalities, Cleft Lip complications, Cleft Palate complications, Eye Abnormalities diagnosis, Fetus abnormalities, Holoprosencephaly diagnosis, Kidney Diseases, Cystic diagnosis
- Abstract
Objective: This study aims to evaluate the use of fetal brain magnetic resonance imaging (MRI) following an antenatal sonographic diagnosis of isolated cleft lip with or without cleft palate (CL/P)., Method: This was a retrospective study of 92 fetuses antenatally diagnosed with isolated CL/P on screening ultrasound. All patients underwent expert diagnostic antenatal ultrasound, fetal brain MRI, and karyotype analysis., Results: Five cases were excluded from the study as associated abnormalities were detected on expert ultrasound: corpus callosum agenesis (n = 1), retrognathism (n = 3), and ectrodactyly (n = 1). Fetal MRI diagnosed unsuspected midline cerebral abnormalities in four out of the 87 remaining cases (4.6%): vermis agenesis (n = 1), isolated arhinencephaly (n = 2), and suspicion of pituitary abnormality (n = 1). All karyotype analyses were normal., Conclusion: In CL/P, the incidence of associated cerebral abnormalities overlooked on ultrasound is 4.6%. Careful evaluation of midline structures by expert ultrasound in CL/P is necessary and may be sufficient. MRI can be useful if the US examination is limited or in case of family history. However, the choice to proceed to fetal MRI may vary from institution to institution., (© 2013 John Wiley & Sons, Ltd.)
- Published
- 2013
- Full Text
- View/download PDF
48. Fetal obstructive uropathy complicated by urinary ascites: outcome and prognostic value of fetal serum β-2-microglobulin.
- Author
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Spaggiari E, Dreux S, Czerkiewicz I, Favre R, Schmitz T, Guimiot F, Laurichesse Delmas H, Verspyck E, Oury JF, Ville Y, and Muller F
- Subjects
- Ascites complications, Ascites metabolism, Biomarkers blood, Female, Gestational Age, Glomerular Filtration Rate physiology, Humans, Kidney Diseases embryology, Kidney Diseases physiopathology, Pregnancy, Pregnancy Outcome, Prenatal Diagnosis methods, Prognosis, Retrospective Studies, Urethral Obstruction complications, Ascites embryology, Fetal Diseases, Urethral Obstruction embryology, beta 2-Microglobulin blood
- Abstract
Objectives: To determine whether the prognostic value of fetal serum β-2-microglobulin is altered and whether the occurrence of fetal urinary ascites prevents kidney damage in cases of fetal obstructive uropathy with urinary ascites., Methods: This was a retrospective study of cases of fetal bilateral obstructive uropathy that occurred between 2006 and 2010, for which both fetal serum and ascites samples were sent to our laboratory for analysis. β-2-microglobulin was assayed in both fetal serum and the corresponding ascites. Renal outcome was analyzed. Histological features of the kidney in cases of termination of pregnancy and renal function of liveborn infants were recorded., Results: Fourteen cases with analysis of fetal serum and fetal ascites in a context of urinary obstruction were included. Renal outcome was unfavorable in eight cases (57%) and favorable in six (43%). When fetal serum β-2-microglobulin was < 5 mg/L, renal outcome was favorable in all cases (4/4). When fetal serum β-2-microglobulin was ≥ 5 mg/L, 8/10 cases (80%) had an unfavorable renal outcome (sensitivity, 100%; specificity, 66%)., Conclusion: Fetal serum β-2-microglobulin reliably predicts postnatal renal outcome in obstructive uropathy complicated by urinary ascites. Moreover, urine extravasation does not seem to protect fetal renal function., (Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd.)
- Published
- 2013
- Full Text
- View/download PDF
49. An individual scoring system for the prediction of postpartum anaemia.
- Author
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Allary J, Soubirou JF, Michel J, Amiel I, Silins V, Brasher C, Oury JF, Nivoche Y, and Dahmani S
- Subjects
- Anesthetics, Local administration & dosage, Anesthetics, Local therapeutic use, Child, Child, Preschool, Home Care Services, Humans, Nerve Block, Analgesia methods, Anesthesia, Conduction methods, Pain, Postoperative drug therapy
- Abstract
Background: Postpartum anaemia (PPA) is a common postpartum complication. The goal of this study was to prospectively construct a predictive score for individual risk of PPA. PATIENTS ET METHOD: We prospectively analyzed factors associated with PPA (<10gdL(-1) at 48hours postpartum). Parameters analyzed were demographic data, pregnancy characteristics, delivery and postpartum characteristics. Univariate analysis was performed using Anova or X(2); the Cox model was used for multivariate analysis. The scoring system was validated using ROC curve., Results: Analysis was performed in 475 patients and validation was carried using an additional 95 patients. Multivariate analysis found four factors independently associated with PPA: anaemia during the third trimester of the pregnancy, Southeast Asian ethnic origin, episiotomy and severe postpartum haemorrhage (PPH) identified by the use of sulprostone. According to the score derived from the Cox model, patients were classified as low (22%, score=0), medium (55%, score=2 or 3) and high (86%, score>3) probability of PPA. Using the AUC of the ROC curve for both the first and the validation cohorts (performed on 95 further patients), we recorded AUCs of 72% and 70% respectively., Conclusions: This study allowed the derivation and validation of a predictive score of PPA. This score might be useful in targeting prophylactic strategies for PPA. Such strategies could include a more active treatment of iron deficiency (increasing oral iron treatment observance or intravenous iron therapy) especially in exposed population, improvement in the prevention and treatment of postpartum haemorrhage and decreasing the use of episiotomy. Future studies must focus on the external validation and generalisation of this scoring system., (Copyright © 2012 Société française d’anesthésie et de réanimation (Sfar). Published by Elsevier SAS. All rights reserved.)
- Published
- 2013
- Full Text
- View/download PDF
50. Second-trimester maternal serum markers and placenta accreta.
- Author
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Dreux S, Salomon LJ, Muller F, Goffinet F, Oury JF, and Sentilhes L
- Subjects
- Adult, Case-Control Studies, Chorionic Gonadotropin, beta Subunit, Human blood, Female, Humans, Pregnancy, Pregnancy Trimester, Second, Retrospective Studies, alpha-Fetoproteins analysis, Biomarkers blood, Placenta Accreta blood, Prenatal Diagnosis methods
- Published
- 2012
- Full Text
- View/download PDF
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