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1.
N Engl J Med ; 384(17): 1623-1634, 2021 04 29.
Artigo em Inglês | MEDLINE | ID: mdl-33913639

RESUMO

BACKGROUND: Prophylactic administration of tranexamic acid has been associated with reduced postpartum blood loss after cesarean delivery in several small trials, but evidence of its benefit in this clinical context remains inconclusive. METHODS: In a multicenter, double-blind, randomized, controlled trial, we assigned women undergoing cesarean delivery before or during labor at 34 or more gestational weeks to receive an intravenously administered prophylactic uterotonic agent and either tranexamic acid (1 g) or placebo. The primary outcome was postpartum hemorrhage, defined as a calculated estimated blood loss greater than 1000 ml or receipt of a red-cell transfusion within 2 days after delivery. Secondary outcomes included gravimetrically estimated blood loss, provider-assessed clinically significant postpartum hemorrhage, use of additional uterotonic agents, and postpartum blood transfusion. RESULTS: Of the 4551 women who underwent randomization, 4431 underwent cesarean delivery, 4153 (93.7%) of whom had primary outcome data available. The primary outcome occurred in 556 of 2086 women (26.7%) in the tranexamic acid group and in 653 of 2067 (31.6%) in the placebo group (adjusted risk ratio, 0.84; 95% confidence interval [CI], 0.75 to 0.94; P = 0.003). There were no significant between-group differences in mean gravimetrically estimated blood loss or in the percentage of women with provider-assessed clinically significant postpartum hemorrhage, use of additional uterotonic agents, or postpartum blood transfusion. Thromboembolic events in the 3 months after delivery occurred in 0.4% of women (8 of 2049) who received tranexamic acid and in 0.1% of women (2 of 2056) who received placebo (adjusted risk ratio, 4.01; 95% CI, 0.85 to 18.92; P = 0.08). CONCLUSIONS: Among women who underwent cesarean delivery and received prophylactic uterotonic agents, tranexamic acid treatment resulted in a significantly lower incidence of calculated estimated blood loss greater than 1000 ml or red-cell transfusion by day 2 than placebo, but it did not result in a lower incidence of hemorrhage-related secondary clinical outcomes. (Funded by the French Ministry of Health; TRAAP2 ClinicalTrials.gov number, NCT03431805.).


Assuntos
Antifibrinolíticos/uso terapêutico , Cesárea/efeitos adversos , Hemorragia Pós-Parto/prevenção & controle , Ácido Tranexâmico/uso terapêutico , Administração Intravenosa , Adulto , Antifibrinolíticos/efeitos adversos , Transfusão de Sangue/estatística & dados numéricos , Método Duplo-Cego , Feminino , Humanos , Gravidez , Embolia Pulmonar/etiologia , Ácido Tranexâmico/efeitos adversos , Trombose Venosa/etiologia
2.
Prenat Diagn ; 44(1): 28-34, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-38054546

RESUMO

OBJECTIVE: To evaluate the postnatal outcome of children with antenatal colonic hyperechogenicity, currently considered as a sign of lysinuria-cystinuria, but which may also be a sign of other disorders with a more severe prognosis. METHOD: We carried out a French multi-centric retrospective study via 15 Multidisciplinary Center for Prenatal Diagnosis from January 2011 to January 2021. We included pregnancies for which fetal colonic hyperechogenicity had been demonstrated. We collected the investigations performed during pregnancy and at birth as well as the main clinical features of the mother and the child. We then established the prevalence of pathologies such as lysinuria-cystinuria (LC), hypotonia-cystinuria syndrome (HC), or lysinuric protein intolerance (LPI). RESULTS: Among the 33 cases of colonic hyperechogenicity collected, and after exclusion of those lost to follow-up, we identified 63% of children with lysinuria-cystinuria, 8% with lysinuric rotein intolerance, and 4% with hypotonia-cystinuria syndrome. CONCLUSION: Management of prenatal hyperechoic colon should include a specialized consultation with a clinical geneticist to discuss further investigations, which could include invasive amniotic fluid sampling for molecular diagnosis. A better understanding of diagnoses and prognosis should improve medical counseling and guide parental decision making.


Assuntos
Deleção Cromossômica , Anormalidades Craniofaciais , Cistinúria , Deficiência Intelectual , Doenças Mitocondriais , Hipotonia Muscular , Recém-Nascido , Criança , Gravidez , Humanos , Feminino , Cistinúria/diagnóstico , Cistinúria/metabolismo , Estudos Retrospectivos , Diagnóstico Pré-Natal , Líquido Amniótico/metabolismo , Ultrassonografia Pré-Natal , Cromossomos Humanos Par 21
3.
Prenat Diagn ; 44(1): 3-14, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-38161284

RESUMO

OBJECTIVE: This study involved very early post-mortem (PM) examination of human fetal anatomy at 8 weeks of gestation (WG) using whole-body multimodal micro-imaging: micro-CT and high-field MRI (HF-MRI). We discuss the potential place of this imaging in early first-trimester virtual autopsy. METHODS: We performed micro-CT after different contrast-bath protocols including diffusible iodine-based contrast-enhanced (dice) and HF-MRI with a 9.4 T machine with qualitative and quantitative evaluation and obtained histological sections. RESULTS: Nine fetuses were included: the crown-rump length was 10-24 mm and corresponded to 7 and 9 WG according to the Robinson formula. The Carnegie stages were 17-21. Dice micro-CT and HF-MRI presented high signal to noise ratio, >5, according to the Rose criterion, and for allowed anatomical phenotyping in these specimens. Imaging did not alter the histology, allowing immunostaining and pathological examination. CONCLUSION: PM non-destructive whole-body multimodal micro-imaging: dice micro-CT and HF-MRI allows for PM human fetal anatomy study as early as 8 WG. It paves the way to virtual autopsy in the very early first trimester. Obtaining a precision phenotype, even regarding miscarriage products, allows a reverse phenotyping to select variants of interest in genome-wide analysis, offering potential genetic counseling for bereaved parents.


Assuntos
Feto , Imageamento por Ressonância Magnética , Gravidez , Feminino , Humanos , Microtomografia por Raio-X/métodos , Feto/diagnóstico por imagem , Idade Gestacional , Autopsia/métodos , Imageamento por Ressonância Magnética/métodos
4.
Am J Obstet Gynecol ; 229(5): 528.e1-528.e17, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37499991

RESUMO

BACKGROUND: Incontinence occurs frequently in the postpartum period. Several theoretical pathophysiological models may underlie the hypothesis that different types of management of the active phase of the second stage of labor have different effects on pelvic floor muscles and thus perhaps affect urinary and anal continence. OBJECTIVE: This study aimed to evaluate the impact of "moderate pushing" on the occurrence of urinary or anal incontinence compared with "intensive pushing," and to determine the factors associated with incontinence at 6 months postpartum. STUDY DESIGN: This was a planned analysis of secondary objectives of the PASST (Phase Active du Second STade) trial, a multicenter randomized controlled trial. PASST included nulliparous women with singleton term pregnancies and epidural analgesia, who were randomly assigned at 8 cm of dilatation to either the intervention group that used "moderate" pushing (pushing only twice during each contraction, resting regularly for 1 contraction in 5 without pushing, and no time limit on pushing) or the control group following the usual management of "intensive" pushing (pushing 3 times during each contraction, with no contractions without pushing, with an obstetrician called to discuss operative delivery after 30 minutes of pushing). Data about continence were collected with validated self-assessment questionnaires at 6 months postpartum. Urinary incontinence was defined by an ICIQ-UI SF (International Consultation on Incontinence Questionnaire-Urinary Incontinence Short Form) score ≥1 and anal incontinence by a Wexner score ≥2. A separate analysis was also performed among the more severely affected women (ICIQ-UI SF ≥6 and Wexner ≥5). Factors associated with incontinence were assessed with univariate and multivariable analyses. RESULTS: Among 1618 women initially randomized, 890 (55%) returned the complete questionnaire at 6 months. The rate of urinary incontinence was 36.6% in the "moderate" pushing group vs 38.5% in the "intensive" pushing group (relative risk, 0.95; 95% confidence interval, 0.80-1.13), whereas the rate of anal incontinence was 32.2% vs 34.6% (relative risk, 0.93; 95% confidence interval, 0.77-1.12). None of the obstetrical factors studied related to the second stage of labor influenced the occurrence of urinary or anal incontinence, except operative vaginal delivery, which increased the risk of anal incontinence (adjusted odds ratio, 1.50; 95% confidence interval, 1.04-2.15). CONCLUSION: The results of the PASST trial indicate that neither moderate nor intensive pushing efforts affect the risk of urinary or anal incontinence at 6 months postpartum among women who gave birth under epidural analgesia.


Assuntos
Incontinência Fecal , Incontinência Urinária , Gravidez , Feminino , Humanos , Segunda Fase do Trabalho de Parto/fisiologia , Parto Obstétrico/métodos , Incontinência Fecal/epidemiologia , Período Pós-Parto , Incontinência Urinária/epidemiologia
5.
Am J Obstet Gynecol ; 227(4): 639.e1-639.e15, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-35868416

RESUMO

BACKGROUND: There is no consensus on an optimal strategy for managing the active phase of the second stage of labor. Intensive pushing could not only reduce pushing duration, but also increase abnormal fetal heart rate because of cord compression and reduced placental perfusion and oxygenation resulting from the combination of uterine contractions and maternal expulsive forces. Therefore, it may increase the risk of neonatal acidosis and the need for operative vaginal delivery. OBJECTIVE: This study aimed to assess the effect of the management encouraging "moderate" pushing vs "intensive" pushing on neonatal morbidity. STUDY DESIGN: This study was a multicenter randomized controlled trial, including nulliparas in the second stage of labor with an epidural and a singleton cephalic fetus at term and with a normal fetal heart rate. Of note, 2 groups were defined: (1) the moderate pushing group, in which women had no time limit on pushing, pushed only twice during each contraction, and observed regular periods without pushing, and (2) the intensive pushing group, in which women pushed 3 times during each contraction and the midwife called an obstetrician after 30 minutes of pushing to discuss operative delivery (standard care). The primary outcome was a composite neonatal morbidity criterion, including umbilical arterial pH of <7.15, base excess of >10 mmol/L, lactate levels of >6 mmol/L, 5-minute Apgar score of <7, and severe neonatal trauma. The secondary outcomes were mode of delivery, episiotomy, obstetrical anal sphincter injuries, postpartum hemorrhage, and maternal satisfaction. RESULTS: The study included 1710 nulliparous women. The neonatal morbidity rate was 18.9% in the moderate pushing group and 20.6% in the intensive pushing group (P=.38). Pushing duration was longer in the moderate group than in the intensive group (38.8±26.4 vs 28.6±17.0 minutes; P<.001), and its rate of operative delivery was 21.1% in the moderate group compared with 24.8% in the intensive group (P=.08). The episiotomy rate was significantly lower in the moderate pushing group than in the intensive pushing group (13.5% vs 17.8%; P=.02). We found no significant difference for obstetrical anal sphincter injuries, postpartum hemorrhage, or maternal satisfaction. CONCLUSION: Moderate pushing has no effect on neonatal morbidity, but it may nonetheless have benefits, as it was associated with a lower episiotomy rate.


Assuntos
Doenças do Recém-Nascido , Hemorragia Pós-Parto , Parto Obstétrico/métodos , Feminino , Humanos , Recém-Nascido , Segunda Fase do Trabalho de Parto/fisiologia , Lactatos , Placenta , Hemorragia Pós-Parto/epidemiologia , Gravidez
6.
Am J Obstet Gynecol ; 227(2): 271.e1-271.e13, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35123930

RESUMO

BACKGROUND: The number of twin pregnancies continues to increase worldwide as both the number of pregnancies obtained by medically assisted reproduction and age at first pregnancy keep rising. Preterm delivery is the major complication associated with twin pregnancies. The effectiveness of preventive treatments such as progesterone or cervical cerclage for women with a short cervix is doubtful in twin pregnancies. The effectivity of cervical pessaries in preventing preterm birth and its associated morbidity and mortality is also controversial. OBJECTIVE: We sought to investigate if the Arabin pessary reduces adverse neonatal outcomes in twin pregnancies with a short cervix. STUDY DESIGN: This open-label, multicenter, randomized controlled trial on twin pregnancies with a cervical length of <35 mm compared pessary placement at 16+0 to 24+0 weeks' gestation with standard care alone. The primary endpoint was a composite of adverse neonatal outcomes, namely peripartum or neonatal death or significant neonatal morbidity before hospital discharge, defined as at least 1 of the following complications: bronchopulmonary dysplasia, intraventricular hemorrhage grade III to IV, periventricular leukomalacia, necrotizing enterocolitis grade II or higher, culture-proven sepsis, and retinopathy requiring treatment. A sample size of 308 pregnancies was planned to ensure 80% power to compare the proportions of women with at least 1 infant with an adverse neonatal outcome. The intention-to-treat analysis after multiple imputation of missing data, was supplemented with a secondary analysis that controlled for gestational age and cervical length, both at inclusion. The primary endpoint was also compared between randomization groups in the per-protocol population, which excluded patients with prespecified major protocol violations (mostly cervical cerclage and/or progesterone after inclusion). Secondary endpoints included preterm birth, spontaneous preterm birth, and pessary side effects. RESULTS: In total, 315 women were randomized to either receive a pessary (n=157) or standard management (n=158). Overall, 10.8% (34 women) of participants had a missing value for the primary endpoint, mostly (79%) because of the lack of paternal consent for neonatal data collection. In the intention-to-treat analysis, the adverse neonatal outcome occurred in 16.8% of the pessary group vs in 22.5% of the control group (risk ratio, 0.69; 95% confidence interval, 0.39-1.23; P=.210). The per-protocol analysis did not show any significant difference between groups (risk ratio, 0.78; 95% confidence interval, 0.47-1.28; P=.320). The occurrence of preterm birth or spontaneous preterm birth did not differ significantly between groups. No serious side effects were associated with pessary use. CONCLUSION: Pessary use in our study did not significantly reduce adverse neonatal outcomes in twin pregnancies with a short cervix.


Assuntos
Pessários , Nascimento Prematuro , Medida do Comprimento Cervical , Colo do Útero/diagnóstico por imagem , Feminino , Humanos , Recém-Nascido , Pessários/efeitos adversos , Gravidez , Gravidez de Gêmeos , Nascimento Prematuro/epidemiologia , Nascimento Prematuro/etiologia , Nascimento Prematuro/prevenção & controle , Progesterona/uso terapêutico
7.
Am J Obstet Gynecol ; 227(6): 889.e1-889.e17, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-35724759

RESUMO

BACKGROUND: Although prophylactic tranexamic acid administration after cesarean delivery resulted in a lower incidence of calculated estimated blood loss of >1000 mL or red cell transfusion by day 2, its failure to reduce the incidence of hemorrhage-related secondary clinical outcomes (TRAnexamic Acid for Preventing Postpartum Hemorrhage Following a Cesarean Delivery trial) makes its use questionable. The magnitude of its effect may differ in women at higher risk of blood loss, including those with multiple pregnancies. OBJECTIVE: This study aimed to compare the effect of tranexamic acid vs placebo to prevent blood loss after cesarean delivery among women with multiple pregnancies. STUDY DESIGN: This was a secondary analysis of the TRAnexamic Acid for Preventing Postpartum Hemorrhage Following a Cesarean Delivery trial data, a double-blind, randomized controlled trial from March 2018 to January 2020 in 27 French maternity hospitals, that included 319 women with multiple pregnancies. Women with a cesarean delivery before or during labor at ≥34 weeks of gestation were randomized to receive intravenously 1 g of tranexamic acid (n=160) or placebo (n=159), both with prophylactic uterotonics. The primary outcome was a calculated estimated blood loss of >1000 mL or a red blood cell transfusion by 2 days after delivery. The secondary outcomes included clinical and laboratory blood loss measurements. RESULTS: Of the 4551 women randomized in this trial, 319 had a multiple pregnancy and cesarean delivery, and 298 (93.4%) had primary outcome data available. This outcome occurred in 62 of 147 women (42.2%) in the tranexamic acid group and 67 of 152 (44.1%) receiving placebo (adjusted risk ratio, 0.97; 95% confidence interval, 0.68-1.38; P=.86). No significant between-group differences occurred for any hemorrhage-related clinical outcomes: gravimetrically estimated blood loss, provider-assessed clinically significant hemorrhage, additional uterotonics, postpartum blood transfusion, arterial embolization, and emergency surgery (P>.05 for all comparisons). CONCLUSION: Among women with a multiple pregnancy and cesarean delivery, prophylactic tranexamic acid did not reduce the incidence of any blood loss-related outcomes.


Assuntos
Antifibrinolíticos , Hemorragia Pós-Parto , Ácido Tranexâmico , Feminino , Gravidez , Humanos , Ácido Tranexâmico/uso terapêutico , Hemorragia Pós-Parto/epidemiologia , Antifibrinolíticos/uso terapêutico , Cesárea/efeitos adversos , Transfusão de Sangue
8.
N Engl J Med ; 379(8): 731-742, 2018 08 23.
Artigo em Inglês | MEDLINE | ID: mdl-30134136

RESUMO

BACKGROUND: The use of tranexamic acid reduces mortality due to postpartum hemorrhage. We investigated whether the prophylactic administration of tranexamic acid in addition to prophylactic oxytocin in women with vaginal delivery would decrease the incidence of postpartum hemorrhage. METHODS: In a multicenter, double-blind, randomized, controlled trial, we randomly assigned women in labor who had a planned vaginal delivery of a singleton live fetus at 35 or more weeks of gestation to receive 1 g of tranexamic acid or placebo, administered intravenously, in addition to prophylactic oxytocin after delivery. The primary outcome was postpartum hemorrhage, defined as blood loss of at least 500 ml, measured with a collector bag. RESULTS: Of the 4079 women who underwent randomization, 3891 had a vaginal delivery. The primary outcome occurred in 156 of 1921 women (8.1%) in the tranexamic acid group and in 188 of 1918 (9.8%) in the placebo group (relative risk, 0.83; 95% confidence interval [CI], 0.68 to 1.01; P=0.07). Women in the tranexamic acid group had a lower rate of provider-assessed clinically significant postpartum hemorrhage than those in the placebo group (7.8% vs. 10.4%; relative risk, 0.74; 95% CI, 0.61 to 0.91; P=0.004; P=0.04 after adjustment for multiple comparisons post hoc) and also received additional uterotonic agents less often (7.2% vs. 9.7%; relative risk, 0.75; 95% CI, 0.61 to 0.92; P=0.006; adjusted P=0.04). Other secondary outcomes did not differ significantly between the two groups. The incidence of thromboembolic events in the 3 months after delivery did not differ significantly between the tranexamic acid group and the placebo group (0.1% and 0.2%, respectively; relative risk, 0.25; 95% CI, 0.03 to 2.24). CONCLUSIONS: Among women with vaginal delivery who received prophylactic oxytocin, the use of tranexamic acid did not result in a rate of postpartum hemorrhage of at least 500 ml that was significantly lower than the rate with placebo. (Funded by the French Ministry of Health; TRAAP ClinicalTrials.gov number, NCT02302456 .).


Assuntos
Antifibrinolíticos/uso terapêutico , Hemorragia Pós-Parto/prevenção & controle , Ácido Tranexâmico/uso terapêutico , Adulto , Antifibrinolíticos/efeitos adversos , Método Duplo-Cego , Quimioterapia Combinada , Feminino , Humanos , Injeções Intravenosas , Análise de Intenção de Tratamento , Ocitócicos/uso terapêutico , Ocitocina/uso terapêutico , Gravidez , Fatores de Risco , Tromboembolia/induzido quimicamente , Ácido Tranexâmico/efeitos adversos
9.
Am J Obstet Gynecol ; 225(6): 676.e1-676.e15, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34058167

RESUMO

BACKGROUND: Compared with standard karyotype, chromosomal microarray analysis improves the detection of genetic anomalies and is thus recommended in many prenatal indications. However, evidence is still lacking on the clinical utility of chromosomal microarray analysis in cases of isolated fetal growth restriction. OBJECTIVE: This study aimed to estimate the proportion of copy number variants detected by chromosomal microarray analysis and the incremental yield of chromosomal microarray analysis compared with karyotype in the detection of genetic abnormalities in fetuses with isolated fetal growth restriction. STUDY DESIGN: This retrospective study included all singleton fetuses diagnosed with fetal growth restriction and no structural ultrasound anomalies and referred to 13 French fetal medicine centers over 1 year in 2016. Fetal growth restriction was defined as an estimated fetal weight of

Assuntos
Retardo do Crescimento Fetal/genética , Análise em Microsséries , Diagnóstico Pré-Natal , Adulto , Feminino , França , Humanos , Gravidez , Estudos Retrospectivos
10.
Fetal Diagn Ther ; 48(11-12): 812-818, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34808620

RESUMO

INTRODUCTION: In France, performance of a termination of pregnancy is legally possible without any gestational age limit. After 22 weeks of gestation, a feticide is ethically performed using usually sufentanil and lidocaine. The aim of this study was to compare the use of remifentanil, a fast-acting morphine-derivating product, instead of sufentanil. METHODS: This 2-center randomized, controlled, single-blinded phase-III treatment trial had 2 parallel arms: an experimental group using remifentanil with lidocaine versus a control group receiving sufentanil associated with lidocaine. This trial took place over a 40-month period. The primary outcome was time to fetal asystole after lidocaine injection. The secondary outcome measures were the procedure's success rate, the rate of serious maternal side effects, and the presence of cellular or tissue modifications. RESULTS: The study included 66 women, randomized into 2 groups of similar size and characteristics. Time to fetal asystole did not differ significantly between the groups, with a delay of 4 min (Q1-Q3, 2-11) in the sufentanil group and 4 min (Q1-Q3, 1-10) in the remifentanil group (p = 0.84). Similarly, the success rate of the procedure did not differ significantly. Fetal asystole was procured in <2 min and persisted >1 min for 16 (25.8%) women in our total population: 7 (22.5%) in the sufentanil group and 9 (29.0%) in the remifentanil group, p = 0.77. No severe maternal side effects were observed. Among the 49 fetopathological examinations performed, the few tissue and cell modifications observed did not cause any interpretation difficulties in either group. DISCUSSION/CONCLUSION: Use of remifentanil instead of sufentanil for feticide procedure did not improve time to fetal asystole. No harmful effect was observed for either maternal tolerance or interpretation of the histologic slides.


Assuntos
Aborto Induzido , Lidocaína , Feminino , Humanos , Lidocaína/efeitos adversos , Gravidez , Remifentanil , Sufentanil/efeitos adversos
11.
Prenat Diagn ; 40(11): 1447-1458, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32673416

RESUMO

OBJECTIVES: The aim of this study was to define the prenatal ultrasound semiology of cleft palate without cleft lip using 3D visualization of the fetal palate. METHODS: A prospective longitudinal study was performed in our University Hospital Center from 2011 to 2018. The fetal secondary palate was studied in 3D, starting with 2D axial transverse ultrasound view. We defined a cleft palate as a disruption of the horizontal plate of the palatine bone of the secondary palate. Prenatal findings were correlated to anatomic postnatal examinations performed by a paediatric plastic surgeon. RESULTS: Forty-three cases of cleft palate without cleft lip were prenatally diagnosed, of whom 34 were associated with malformations. We defined four types of disruptive appearances: isolated nonvisualization of the posterior nasal spine; partial-disruption or cleft velum; complete disappearance or V-shaped cleft palate; and complete disappearance or U-shaped cleft palate. The adjusted kappa coefficient, between prenatal and postnatal evaluation, was 0.88 (95% CI: 0.79-0.97), corresponding to an excellent agreement. CONCLUSIONS: Using a strictly axial transverse ultrasound view, visualization of the secondary fetal palate enables to diagnose a cleft palate without cleft lip. This method offers a prenatal anatomic classification of cleft palate with a high level of concordance to postnatal findings.


Assuntos
Fissura Palatina/diagnóstico por imagem , Imageamento Tridimensional/métodos , Ultrassonografia Pré-Natal/métodos , Fissura Palatina/classificação , Feminino , Humanos , Estudos Longitudinais , Gravidez , Estudos Prospectivos
12.
BJU Int ; 124(5): 876-882, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-30776193

RESUMO

OBJECTIVES: To report the clinical spectrum of genital defects diagnosed before birth, identify predictive factors for severe phenotypes at birth, and determine the rate of associated malformations. PATIENTS AND METHODS: A retrospective study (2008-2017) of 4580 fetuses, identified prenatally with abnormalities evaluated by our Reference Center for Fetal Medicine, included cases with fetal sonographic findings of abnormal genitalia or uncertainty of fetal sex determination. Familial, prenatal and postnatal data were collected via a standardised questionnaire. RESULTS: In all, 61 fetuses were included. The positive predictive value (PPV) of the prenatal diagnosis of genital defects was 90.1%. Most cases were 46,XY-undervirilized boys, 42 cases (68.8%), which included 29 with mid-penile or posterior hypospadias, nine with anterior hypospadias, and epispadias, micropenis, scrotal transposition, and buried penis (one each). In all, 46,XX-virilized girls were identified in seven cases (11.5%), which included four with congenital adrenal hyperplasia, two with isolated clitoromegaly, and one with ovotestis. Other defects included prune belly syndrome and persistent cloaca (six cases). Early detection during the second trimester (58.1% vs 18.8%, P = 0.03), intra-uterine growth restriction (IUGR) (45.2% vs 9.1%, P = 0.06), and curvature of the penis (38.7% vs 0%, P = 0.02), were more frequently related to severe defects in male newborns. Associated malformations (14 cases, 22.9%) and genetic defects (six) were frequent in undervirilized boys. CONCLUSION: Prenatal imaging of genital defects leads to a wide range of phenotypes at birth. Its PPV is high and extra-urinary malformations are frequent. Early diagnosis during the second trimester, associated IUGR, and curvature of the genital tubercle, should raise suspicion of a severe phenotype and may justify delivery near a multidisciplinary disorders/differences of sex development team.


Assuntos
Doenças dos Genitais Masculinos , Ultrassonografia Pré-Natal , Feminino , Feto/diagnóstico por imagem , Doenças dos Genitais Masculinos/congênito , Doenças dos Genitais Masculinos/diagnóstico por imagem , Doenças dos Genitais Masculinos/patologia , Humanos , Masculino , Pênis/anormalidades , Pênis/diagnóstico por imagem , Pênis/patologia , Gravidez , Estudos Retrospectivos
13.
Prenat Diagn ; 39(1): 16-25, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30536936

RESUMO

OBJECTIVE: To assess specific, direct, and indirect prenatal ultrasound features in cases of fetal midgut volvulus. METHODS: Retrospective case series of neonatal volvulus, based on postnatal and prenatal imaging findings that occurred from 2006-2017. Prenatal and postnatal signs including the specific "whirlpool sign" were computed. Postnatal volvulus was confirmed by pathology examination after surgery or neonatal autopsy. RESULTS: Thirteen cases of midgut volvulus were identified. Though not a specific sign, a decrease in active fetal movements was reported in eight patients (61.5%). The prenatal whirlpool sign was directly seen in 10 cases, while an indirect but suggestive sign, a fluid-filled level within the dilated loops, was present in five cases. No intestinal malrotation was observed. Pregnancy outcomes were two terminations of pregnancy, both associated with cystic fibrosis, one early neonatal death, three prenatal spontaneous regressions, and seven favorable outcomes after neonatal surgery with resection of midgut atresia. CONCLUSIONS: Identification of the whirlpool sign or of a fluid-filled level within the dilated loops improves the accuracy of ultrasound findings for suspected volvulus. In the absence of total volvulus (in cases of intestinal malrotation) or association with cystic fibrosis, the prognosis appears good.


Assuntos
Anormalidades do Sistema Digestório/diagnóstico por imagem , Anormalidades do Sistema Digestório/embriologia , Volvo Intestinal/diagnóstico por imagem , Volvo Intestinal/embriologia , Ultrassonografia Pré-Natal , Anormalidades do Sistema Digestório/cirurgia , Feminino , Movimento Fetal , Idade Gestacional , Humanos , Recém-Nascido , Volvo Intestinal/cirurgia , Morte Perinatal , Gravidez , Resultado da Gravidez , Nascimento Prematuro , Diagnóstico Pré-Natal , Prognóstico , Estudos Retrospectivos
14.
Prenat Diagn ; 38(6): 390-394, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29528514

RESUMO

OBJECTIVES: The aim of this study was to evaluate the prevalence, the prenatal, and postnatal evolution of isolated fetal splenic cysts. METHODS: All cases of suspected fetal splenic cyst or abdominal unidentified cyst discovered during routine ultrasound scan, from 2007 to 2017, and referred to a French tertiary care center, were retrospectively collected. For each case, several prenatal parameters and postnatal evolution were reported. RESULTS: Among 5450 cases of fetal anomalies, 14 patients (0.3%) had a prenatal diagnosis of fetal splenic cysts. Median gestational age at diagnosis was 30.1 weeks. A unique cyst was present in 78.6%, whereas 2 cysts were observed in 14.3% and 3 cysts in 7.1%. During the pregnancy, cysts remained the same (78.6%) or disappeared (21.4%). Ultrasound scans at 6 months of age found total disappearance of the cysts (36.4%), spontaneous reduction from 2 to 1 cyst (18.2%) or persistence of the cysts (45.4%). CONCLUSION: Fetal splenic cysts are rare images, always isolated, usually unique and mainly found during third trimester of pregnancy. Their evolution is to disappear spontaneously during pregnancy or at 6 months of age leaving only half of them to remain beyond that age but without any symptoms.


Assuntos
Cistos/epidemiologia , Doenças Fetais/epidemiologia , Esplenopatias/epidemiologia , Adulto , Cistos/diagnóstico , Feminino , Doenças Fetais/diagnóstico , França/epidemiologia , Humanos , Gravidez , Prevalência , Estudos Retrospectivos , Esplenopatias/diagnóstico , Ultrassonografia Pré-Natal , Adulto Jovem
15.
Prenat Diagn ; 38(7): 523-530, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29740835

RESUMO

OBJECTIVE: To determine the prognostic value of fetal Doppler and echocardiographic parameters for intrauterine fetal demise (IUFD) within 24 hours and within 1 week after laser coagulation in monochorionic pregnancies complicated by twin-twin transfusion syndrome. METHOD: This retrospective study correlated the preoperative hemodynamic and echocardiography parameters to the outcome in fetuses with twin-twin transfusion syndrome undergoing laser therapy. RESULTS: One hundred and twelve laser coagulations were performed between February 2006 and June 2015. The total (single and double) IUFD rate was 27.7%. Further, 59% of IUFD occurred within 24 hours and 74.4% occurred within 1 week after laser. The following were associated to IUFD within 24 hours: the middle cerebral arterial pulsatility index in the donor, abnormal umbilical artery (UA) end diastolic flow, increased middle cerebral artery peak systolic velocity, and right ventricular myocardial performance index (RV-MPI) z-score in the recipient. For IUFD within 1 week were the pulsatility index in the donor UA and the recipient abnormalities in UA, ductus venosus, middle cerebral artery-peak systolic velocity, and RV-MPI z-score. CONCLUSION: Following laser was early IUFD that was associated with Doppler findings suggesting donor cerebroplacental redistribution, and recipient overload cardiomyopathy, such as abnormal ductus venosus and UA Dopplers as well as an increase of RV-MPI.


Assuntos
Morte Fetal , Transfusão Feto-Fetal/diagnóstico por imagem , Fotocoagulação a Laser/estatística & dados numéricos , Adulto , Ecocardiografia Doppler , Feminino , Coração Fetal/diagnóstico por imagem , Transfusão Feto-Fetal/mortalidade , Transfusão Feto-Fetal/terapia , Fetoscopia , Humanos , Fotocoagulação a Laser/efeitos adversos , Gravidez , Gravidez de Gêmeos , Quebeque/epidemiologia , Estudos Retrospectivos , Gêmeos Monozigóticos , Ultrassonografia Pré-Natal
16.
Acta Obstet Gynecol Scand ; 97(11): 1300-1308, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29964326

RESUMO

INTRODUCTION: When an orofacial cleft lip is discovered, precise characterization of this malformation is necessary, especially the extension of this cleft to the secondary palate. We aimed to develop and evaluate the feasibility/reproducibility of a score-based quality control for the visualization of the fetal hard palate during the second-trimester scan. MATERIAL AND METHODS: All ultrasound images of fetal hard palate assessed routinely during second-trimester scan were retrospectively retrieved for a 6-month period. One hundred of these images were randomly selected and analyzed by two blinded reviewers, according to a scoring system (0-6 points). Criteria retained in the score were complete palate bone horizontal plate, presence of two pterygoid processes, visible alveolar ridge, and horizontal axis of insonation. A score ≥4 defined images of good quality. Inter- and intra-reviewer reproducibility was assessed. RESULTS: Inter-reviewer reproducibility was excellent with significant correlation (Pearson coefficient 0.953; P < .0001), global adjusted κ coefficient (0.86, 95% CI 0.79-0.94) and individual criteria adjusted κ coefficient always > 0.8. Rates of images of good quality (score ≥ 4) were 75%-77%, also with excellent agreement (κ coefficient 0.89, 95% CI 0.79-0.99). Intra-reviewer reproducibility retrieved the same results (excellent agreement) except for the axis of insonation (satisfactory agreement). CONCLUSIONS: This simple image scoring system for the fetal palate is easy, has excellent inter- and intra-reviewer reproducibility and could also help sonographers to correctly identify the palate structure.


Assuntos
Fissura Palatina/diagnóstico por imagem , Técnicas de Apoio para a Decisão , Palato Duro/diagnóstico por imagem , Segundo Trimestre da Gravidez , Controle de Qualidade , Ultrassonografia Pré-Natal/normas , Adulto , Fenda Labial/diagnóstico por imagem , Fenda Labial/embriologia , Fissura Palatina/embriologia , Estudos de Viabilidade , Feminino , Humanos , Variações Dependentes do Observador , Palato Duro/embriologia , Gravidez , Reprodutibilidade dos Testes , Estudos Retrospectivos , Método Simples-Cego
17.
Fetal Diagn Ther ; 44(2): 135-141, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-28918426

RESUMO

INTRODUCTION: The objective was to assess the prognostic value of the systolic flow through the aortic isthmus in monochorionic pregnancies complicated by twin-twin transfusion syndrome (TTTS) treated by placental laser ablation. MATERIAL AND METHODS: Fetal echocardiography and outcome data of 105 cases of TTTS treated by laser photocoagulation of placental anastomoses were reviewed. Hemodynamic parameters were collected before and after treatment. The isthmic systolic index (ISI) was calculated as the peak systolic velocity/systolic nadir ratio. RESULTS: A total of 105 laser coagulations were studied. Fetal echocardiography pre- and post-laser were available in 68 cases, including 55 with data on aortic isthmic Doppler. Survival rates were 17, 22, and 61% for 0, 1, or 2 twins, respectively. At least 1 twin was delivered alive in 83% of the pregnancies. The mean gestational age at surgery was 21 weeks (range 16-26). Median ISI values were similar for donor and recipient twins, before and after laser ablation (all p > 0.05). A lower recipient ISI before laser was related to early recipient demise within 24 h (p = 0.04). DISCUSSION: A lower ISI before placental laser ablation for TTTS is associated with postoperative demise of the recipient twin.


Assuntos
Aorta/diagnóstico por imagem , Velocidade do Fluxo Sanguíneo , Morte Fetal , Transfusão Feto-Fetal/diagnóstico por imagem , Transfusão Feto-Fetal/cirurgia , Fotocoagulação a Laser/efeitos adversos , Gêmeos , Aorta/fisiologia , Velocidade do Fluxo Sanguíneo/fisiologia , Ecocardiografia Doppler , Feminino , Morte Fetal/etiologia , Fetoscopia/métodos , Humanos , Fotocoagulação a Laser/métodos , Valor Preditivo dos Testes , Gravidez , Resultado do Tratamento
18.
Prenat Diagn ; 37(13): 1353-1359, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-29171042

RESUMO

OBJECTIVES: The objectives of this study were to describe the methodology and to assess the feasibility of a simple 2D ultrasound technique to visualize the fetal hard palate (FHP) using a strict axial transverse view (ATV). METHODS: Prospective cohort of 100 singleton pregnancies, screened routinely during second trimester scans. Three operators imaged the FHP through a strict 2D ATV according to a simple methodology. An expert sonographer reviewed all images, and palate normality was confirmed at birth. Univariate and multivariate analysis of factors modifying the ability to assess the palate were performed. RESULTS: Feasibility of imaging the FHP was obtained in 95% of cases with no difference between the operators (P = .7). The palate was visualized directly without fetal mobilization in 46%. An earlier gestational age at scanning, a prolonged duration of the scan, fetal back positioned anteriorly, fetal head flexed, a smaller amniotic pocket, and an unmoving fetal limb significantly reduced the feasibility. All failed attempts were in fetuses with their back located in anterior and in those with a deflexed head. Multivariate analysis did not converge because of the collinearity of most parameters. CONCLUSIONS: The ATV is an easy, simple, and accessible 2D method to visualize the FHP with no additional time.


Assuntos
Palato Duro/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Adolescente , Adulto , Estudos de Viabilidade , Feminino , Humanos , Gravidez , Estudos Prospectivos , Ultrassonografia Pré-Natal/estatística & dados numéricos , Adulto Jovem
20.
Prenat Diagn ; 36(10): 905-910, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27442058

RESUMO

BACKGROUND: Chorionic villus sampling (CVS) and amniocentesis are the major tools of invasive prenatal diagnosis. We studied the effectiveness of two simulators in training in invasive procedures. METHODS: Two affordable and simple simulators were developed, modelling the maternal abdomen and the different tissue layers crossed by the needle. The trainees were evaluated before and after practical and theoretical training. A score evaluating five criteria for technical quality in performing a procedure safely was established. Initial score of 9 or 10 was excluded. The primary endpoint was improvement defined as the change between pre-test and post-test, expressed as a percentage of the pre-test. RESULTS: A total of 54 residents and 63 specialists in obstetrics and gynaecology participated. Residents improved their scores in the practice of amniocentesis (80% [43-167]) and CVS (100% [29-150]), as well as specialists (100% [25-233] and 67% [33-122]). Specialists who earlier performed one CVS or more than five amniocentesis procedures had a lower increase during training than those who had performed fewer than five procedures (p < 0.01). Being inexperienced in CVS was associated with greater improvement (27% vs 56%, p = 0.003). CONCLUSION: A simple simulator improves the ability of physicians to perform invasive procedures in particular when initial experience is low. © 2016 John Wiley & Sons, Ltd.


Assuntos
Amniocentese , Amostra da Vilosidade Coriônica , Competência Clínica , Educação Médica Continuada/métodos , Educação de Pós-Graduação em Medicina/métodos , Obstetrícia/educação , Treinamento por Simulação/métodos , Humanos , Biópsia Guiada por Imagem , Internato e Residência , Diagnóstico Pré-Natal , Ultrassonografia Pré-Natal
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