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1.
N Engl J Med ; 388(10): 873-887, 2023 Mar 09.
Artigo em Inglês | MEDLINE | ID: mdl-36808186

RESUMO

BACKGROUND: Tuberculosis is usually treated with a 6-month rifampin-based regimen. Whether a strategy involving shorter initial treatment may lead to similar outcomes is unclear. METHODS: In this adaptive, open-label, noninferiority trial, we randomly assigned participants with rifampin-susceptible pulmonary tuberculosis to undergo either standard treatment (rifampin and isoniazid for 24 weeks with pyrazinamide and ethambutol for the first 8 weeks) or a strategy involving initial treatment with an 8-week regimen, extended treatment for persistent clinical disease, monitoring after treatment, and retreatment for relapse. There were four strategy groups with different initial regimens; noninferiority was assessed in the two strategy groups with complete enrollment, which had initial regimens of high-dose rifampin-linezolid and bedaquiline-linezolid (each with isoniazid, pyrazinamide, and ethambutol). The primary outcome was a composite of death, ongoing treatment, or active disease at week 96. The noninferiority margin was 12 percentage points. RESULTS: Of the 674 participants in the intention-to-treat population, 4 (0.6%) withdrew consent or were lost to follow-up. A primary-outcome event occurred in 7 of the 181 participants (3.9%) in the standard-treatment group, as compared with 21 of the 184 participants (11.4%) in the strategy group with an initial rifampin-linezolid regimen (adjusted difference, 7.4 percentage points; 97.5% confidence interval [CI], 1.7 to 13.2; noninferiority not met) and 11 of the 189 participants (5.8%) in the strategy group with an initial bedaquiline-linezolid regimen (adjusted difference, 0.8 percentage points; 97.5% CI, -3.4 to 5.1; noninferiority met). The mean total duration of treatment was 180 days in the standard-treatment group, 106 days in the rifampin-linezolid strategy group, and 85 days in the bedaquiline-linezolid strategy group. The incidences of grade 3 or 4 adverse events and serious adverse events were similar in the three groups. CONCLUSIONS: A strategy involving initial treatment with an 8-week bedaquiline-linezolid regimen was noninferior to standard treatment for tuberculosis with respect to clinical outcomes. The strategy was associated with a shorter total duration of treatment and with no evident safety concerns. (Funded by the Singapore National Medical Research Council and others; TRUNCATE-TB ClinicalTrials.gov number, NCT03474198.).


Assuntos
Antituberculosos , Diarilquinolinas , Linezolida , Rifampina , Tuberculose Pulmonar , Humanos , Antituberculosos/efeitos adversos , Antituberculosos/uso terapêutico , Esquema de Medicação , Quimioterapia Combinada , Etambutol/efeitos adversos , Etambutol/uso terapêutico , Isoniazida/efeitos adversos , Isoniazida/uso terapêutico , Linezolida/efeitos adversos , Linezolida/uso terapêutico , Pirazinamida/efeitos adversos , Pirazinamida/uso terapêutico , Rifampina/efeitos adversos , Rifampina/uso terapêutico , Resultado do Tratamento , Tuberculose Resistente a Múltiplos Medicamentos/tratamento farmacológico , Tuberculose Pulmonar/tratamento farmacológico , Tuberculose Pulmonar/complicações , Diarilquinolinas/efeitos adversos , Diarilquinolinas/uso terapêutico
2.
Ultrasound Obstet Gynecol ; 63(4): 489-496, 2024 04.
Artigo em Inglês | MEDLINE | ID: mdl-37725758

RESUMO

OBJECTIVE: To compare the performance of two-dimensional ultrasound (2D-US), three-dimensional ultrasound (3D-US) and magnetic resonance imaging (MRI) at 36 weeks' gestation in predicting the delivery of a large-for-gestational-age (LGA) neonate, defined as birth weight ≥ 95th percentile, in patients at high and low risk for macrosomia. METHODS: This was a secondary analysis of a prospective observational study conducted between January 2017 and February 2019. Women with a singleton pregnancy at 36 weeks' gestation underwent 2D-US, 3D-US and MRI within 15 min for estimation of fetal weight. Weight estimations and birth weight were plotted on a growth curve to obtain percentiles for comparison. Participants were considered high risk if they had at least one of the following risk factors: diabetes mellitus, estimated fetal weight ≥ 90th percentile at the routine third-trimester ultrasound examination, obesity (prepregnancy body mass index ≥ 30 kg/m2) or excessive weight gain during pregnancy. The outcome was the diagnostic performance of each modality in the prediction of birth weight ≥ 95th percentile, expressed as the area under the receiver-operating-characteristics curve (AUC), sensitivity, specificity and positive and negative predictive values. RESULTS: A total of 965 women were included, of whom 533 (55.23%) were high risk and 432 (44.77%) were low risk. In the low-risk group, the AUCs for birth weight ≥ 95th percentile were 0.982 for MRI, 0.964 for 2D-US and 0.962 for 3D-US; pairwise comparisons were non-significant. In the high-risk group, the AUCs were 0.959 for MRI, 0.909 for 2D-US and 0.894 for 3D-US. A statistically significant difference was noted between MRI and both 2D-US (P = 0.002) and 3D-US (P = 0.002), but not between 2D-US and 3D-US (P = 0.503). In the high-risk group, MRI had the highest sensitivity (65.79%) compared with 2D-US (36.84%, P = 0.002) and 3D-US (21.05%, P < 0.001), whereas 3D-US had the highest specificity (98.99%) compared with 2D-US (96.77%, P = 0.005) and MRI (96.97%, P = 0.004). CONCLUSIONS: At 36 weeks' gestation, MRI has better performance compared with 2D-US and 3D-US in predicting birth weight ≥ 95th percentile in patients at high risk for macrosomia, whereas the performance of 2D-US and 3D-US is comparable. For low-risk patients, the three modalities perform similarly. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.


Assuntos
Macrossomia Fetal , Peso Fetal , Gravidez , Recém-Nascido , Humanos , Feminino , Lactente , Peso ao Nascer , Macrossomia Fetal/diagnóstico por imagem , Idade Gestacional , Ultrassonografia Pré-Natal/métodos , Recém-Nascido Pequeno para a Idade Gestacional , Imageamento por Ressonância Magnética
3.
Artigo em Inglês | MEDLINE | ID: mdl-38477187

RESUMO

OBJECTIVE: Large-for-gestational-age (LGA) is associated with several adverse maternal and neonatal outcomes. Although many studies have found that early induction of labor (eIOL) in LGA reduces the incidence of shoulder dystocia (SD), no current guidelines recommend this particular strategy, due to concerns about increased rates of cesarean delivery (CD) and neonatal complications. The purpose of this study was to assess whether the timing of IOL in LGA fetuses affects maternal and neonatal outcomes in a single center; and to combine these results with the evidence reported in the literature. METHODS: This study comprised two parts. The first was a retrospective cohort study that included: consecutive patients with singleton pregnancy, an estimated fetal weight (EFW) ≥90th percentile on ultrasound (US) between 35+0 and 39+0 weeks of gestation (WG), who were eligible for normal vaginal delivery. The second part was a systematic review of literature and meta-analysis that included the results of the first part as well as all previously reported studies that have compared IOL to expectant management in patients with LGA. The perinatal outcomes were CD, operative vaginal delivery (OVD), SD, brachial plexus palsy, anal sphincter injury, postpartum hemorrhage (PPH), APGAR score, umbilical arterial pH, neonatal intensive care unit (NICU) admission, use of continuous positive airway pressure (CPAP), intracranial hemorrhage (ICH), phototherapy, and bone fracture. RESULTS: Retrospective cohort: of the 547 patients, 329 (60.1%) were induced and 218 (39.9%) entered spontaneous labor. Following covariate balancing, CD was significantly higher in the IOL group in comparison to the spontaneous labor group. This difference only became apparent beyond 40WG (hazard ratio: 1.9, p=0.030). The difference between both groups for shoulder dystocia was not statistically significant. Systematic review and metanalysis: 17 studies were included in addition to our own results giving a total sample size of 111,300 participants. When IOL was performed <40+0WG, the risk for SD was significantly lower in the IOL group (OR: 0.64, 95%CI: 0.42-0.98, I2 =19%). There was no significant difference in CD rate between IOL and expectant management after pooling the results of these 17 studies. However, when removing the studies in which IOL was done exclusively before 40+0WG, the risk for CD in the remaining studies (IOL not exclusively <40+0WG) was significantly higher in the IOL group (odds ratio [OR]: 1.46, 95% confidence interval [95%CI]: 1.02-2.09, I2 =56%). There were no statistically significant differences between IOL and expectant management for the remaining perinatal outcomes. Nulliparity, history of CD, and low Bishop score but not methods of induction were independent risk factors for intrapartum CD in patients who were induced for LGA. CONCLUSION: Timing of IOL in patients with suspected macrosomia significantly impacts perinatal adverse outcomes. IOL has no impact on rates of SD but does increase CD when considered irrespective of gestational age, but it may decrease the risk of SD without increasing the risk of other adverse maternal outcomes, in particular cesarean section when performed before 40+0 WG. (GRADE: Low/Very low). This article is protected by copyright. All rights reserved.

4.
Ultrasound Obstet Gynecol ; 63(4): 529-535, 2024 04.
Artigo em Inglês | MEDLINE | ID: mdl-38051135

RESUMO

OBJECTIVE: To assess whether the cannula insertion site on the maternal abdomen during fetal endoscopic tracheal occlusion (FETO) for congenital diaphragmatic hernia (CDH) was associated with preterm prelabor rupture of membranes (PPROM) before balloon removal. METHODS: This was a multicenter retrospective study of consecutive pregnancies with isolated left- or right-sided CDH that underwent FETO in four centers between January 2009 and January 2021. The site for balloon insertion was categorized as above or below the umbilicus. One propensity score was analyzed in both groups to calculate an average treatment effect (ATE) by inverse probability of treatment weighting. Logistic regression and Cox proportional hazard regression including the ATE weights were performed to examine the effect size of entry point on the frequency and timing of PPROM before balloon removal. RESULTS: A total of 294 patients were included. The mean ± SD gestational age at PPROM was 33.45 ± 2.01 weeks and the mean rate of PPROM before balloon removal was 25.9% (76/294). Gestational age at FETO was later in the below-umbilicus group (mean ± SD, 29.47 ± 1.29 weeks vs 29.00 ± 1.25 weeks; P = 0.002) and the duration of FETO was longer in the above-umbilicus group (median, 14.49 min (interquartile range (IQR), 8.00-21.00 min) vs 11.00 min (IQR, 7.00-14.49 min); P = 0.002). After balancing for possible confounding factors, trocar entry point below the umbilicus did not increase the risk of PPROM before balloon removal (adjusted odds ratio, 1.56 (95% CI, 0.89-2.74); P = 0.120) and had no effect on the timing of PPROM before balloon removal (adjusted hazard ratio, 1.56 (95% CI, 0.95-2.55); P = 0.080). CONCLUSION: There was no evidence that uterine entry site for FETO was correlated with the risk of PPROM before balloon removal. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.


Assuntos
Oclusão com Balão , Ruptura Prematura de Membranas Fetais , Hérnias Diafragmáticas Congênitas , Gravidez , Recém-Nascido , Feminino , Humanos , Lactente , Hérnias Diafragmáticas Congênitas/cirurgia , Fetoscopia , Cânula , Estudos Retrospectivos , Traqueia/cirurgia
5.
Ultrasound Obstet Gynecol ; 61(3): 392-398, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36773302

RESUMO

OBJECTIVE: To evaluate the prevalence of and risk factors for failure of fetal magnetic resonance imaging (MRI) due to maternal claustrophobia or malaise. METHODS: This retrospective cohort study included pregnant women who underwent fetal MRI for clinical indications or research purposes between January 2012 and December 2019 at a single center. One group included patients who completed the entire examination and the other group inlcuded patients who interrupted their MRI examination due to claustrophobia/malaise. We estimated the rate of MRI failure due to maternal claustrophobia/malaise and compared maternal and clinical variables between the two groups. Multiple logistic regression analysis was performed to identify independent risk factors for claustrophobia/malaise during MRI examination in pregnancy. RESULTS: Among 3413 patients who agreed to undergo fetal MRI, the prevalence of failure because of claustrophobia or malaise was 2.1%. The rate of claustrophobia/malaise in patients who underwent MRI for a clinical indication was lower compared to that in patients who underwent MRI for research purposes only (0.6% (4/696) vs 2.4% (65/2678); P = 0.003). Fetal MRI performed for research purposes only (adjusted odds ratio (aOR), 0.05 (95% CI, 0.01-0.48); P = 0.003), higher maternal age (aOR, 1.07 (95% CI, 1.02-1.12); P = 0.003) and later gestational age at the time of fetal MRI (aOR, 1.46 (95% CI, 1.16-2.04); P = 0.008) were independent risk factors for claustrophobia/malaise. Shorter fetal MRI duration (aOR, 0.77 (95% CI, 0.63-0.88); P = 0.001) was also associated with claustrophobia/malaise during the procedure. Body mass index, ethnic origin, multiple pregnancy, being parous and size of the magnetic bore were not associated with MRI failure due to claustrophobia/malaise. CONCLUSION: The rate of fetal MRI failure due to claustrophobia or malaise was found to be low, particularly when the examination was performed for a clinical indication, and should not be considered a common problem in the pregnant population. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.


Assuntos
Transtornos Fóbicos , Humanos , Gravidez , Feminino , Estudos Retrospectivos , Prevalência , Fatores de Risco , Transtornos Fóbicos/complicações , Transtornos Fóbicos/epidemiologia , Imageamento por Ressonância Magnética/métodos
6.
Exp Appl Acarol ; 86(1): 145-156, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34787774

RESUMO

Ticks are globally renowned vectors for numerous zoonoses, and birds have been identified as important hosts for several species of hard ticks (Acari: Ixodidae) and tick-borne pathogens. Many European bird species overwinter in Africa and Western Asia, consequently migrating back to breeding grounds in Europe in the spring. During these spring migrations, birds may transport exotic tick species (and associated pathogens) to areas outside their typical distribution ranges. In Finland, very few studies have been conducted regarding ticks parasitizing migrating or local birds, and existing data are outdated, likely not reflecting the current situation. Consequently, in 2018, we asked volunteer bird ringers to collect ticks from migrating and local birds, to update current knowledge on ticks found parasitizing birds in Finland. In total 430 ticks were collected from 193 birds belonging to 32 species, caught for ringing between 2018 and 2020. Furthermore, four Ixodes uriae were collected from two roosting islets of sea birds in 2016 and 2020. Ticks collected on birds consisted of: Ixodes ricinus (n = 421), Ixodes arboricola (4), Ixodes lividus (2) and Hyalomma marginatum (3). Ixodes ricinus loads (nymphs and larvae) were highest on thrushes (Passeriformes: Turdidae) and European robins (Erithacus rubecula). The only clearly imported exotic tick species was H. marginatum. This study forms the second report of both I. uriae and I. arboricola from Finland, and possibly the northernmost observation of I. arboricola from Europe. The importation of exotic tick species by migrating birds seems a rare occurrence, as over 97% of all ticks collected from birds arriving in Finland during their spring migrations were I. ricinus, a species native to and abundant in Finland.


Assuntos
Doenças das Aves , Ixodes , Ixodidae , Passeriformes , Infestações por Carrapato , Animais , Doenças das Aves/epidemiologia , Finlândia , Infestações por Carrapato/epidemiologia , Infestações por Carrapato/veterinária
7.
Ultrasound Obstet Gynecol ; 58(2): 178-189, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-33838069

RESUMO

OBJECTIVE: To expand the limited knowledge on cell-free DNA (cfDNA) analysis of maternal blood for trisomies 21, 18 and 13 in twin pregnancy by updating the data from The Fetal Medicine Foundation (FMF) on prospective first-trimester screening and those identified in a systematic review of the literature. METHODS: The FMF data were derived from prospective screening for trisomies 21, 18 and 13 in twin pregnancies at 10 + 0 to 14 + 1 weeks' gestation using the Harmony® prenatal test. A search of MEDLINE, EMBASE, CENTRAL (The Cochrane Library), ClinicalTrials.gov and the International Clinical Trials Registry Platform (World Health Organization) was carried out to identify all peer-reviewed publications on clinical validation or implementation of maternal cfDNA testing for trisomies 21, 18 and 13 in twin pregnancy, irrespective of gestational age at testing, in which data on pregnancy outcome were provided for at least 85% of the study population. Meta-analysis was performed using the FMF data and data from the studies identified by the literature search. This review was registered in the PROSPERO international database for systematic reviews RESULTS: In the FMF study, cfDNA testing was carried out in 1442 twin pregnancies and a result was obtained, after first or second sampling, in 1367 (94.8%) cases. In 93.1% (1272/1367) of cases, there was prenatal or postnatal karyotyping or birth of phenotypically normal babies; 95 cases were excluded from further analysis either because the pregnancy ended in termination, miscarriage or stillbirth with no known karyotype (n = 56) or there was loss to follow-up (n = 39). In the 1272 pregnancies included in the study, there were 20 cases with trisomy 21, 10 with trisomy 18, two with trisomy 13 and 1240 without trisomy 21, 18 or 13. The cfDNA test classified correctly 19 (95.0%) of the 20 cases of trisomy 21, nine (90.0%) of the 10 cases of trisomy 18, one (50.0%) of the two cases of trisomy 13 and 1235 (99.6%) of the 1240 cases without any of the three trisomies. The literature search identified 12 relevant studies, excluding our papers because their data are included in the current study. In the combined populations of our study and the 12 studies identified by the literature search, there were 137 trisomy-21 and 7507 non-trisomy-21 twin pregnancies; the pooled weighted detection rate (DR) and false-positive rate (FPR) were 99.0% (95% CI, 92.0-99.9%) and 0.02% (95% CI, 0.001-0.43%), respectively. In the combined total of 50 cases of trisomy 18 and 6840 non-trisomy-18 pregnancies, the pooled weighted DR and FPR were 92.8% (95% CI, 77.6-98.0%) and 0.01% (95% CI, 0.00-0.44%), respectively. In the combined total of 11 cases of trisomy 13 and 6290 non-trisomy-13 pregnancies, the pooled weighted DR and FPR were 94.7% (95% CI, 9.14-99.97%) and 0.10% (95% CI, 0.03-0.39%), respectively. CONCLUSIONS: In twin pregnancy, the reported DR of trisomy 21 by cfDNA testing is high, but lower than that in singleton pregnancy, whereas the FPR appears to be equally low. The number of cases of trisomy 18 and more so trisomy 13 was too small for accurate assessment of the predictive performance of the cfDNA test. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.


Assuntos
Ácidos Nucleicos Livres/sangue , Gravidez de Gêmeos , Diagnóstico Pré-Natal , Trissomia/diagnóstico , Estudos de Coortes , Feminino , Humanos , Gravidez , Primeiro Trimestre da Gravidez
8.
Ultrasound Obstet Gynecol ; 57(3): 478-487, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-32438461

RESUMO

OBJECTIVES: To validate prospectively the ADNEX magnetic resonance (MR) scoring system to assess adnexal masses and to evaluate a new, modified ADNEX MR scoring system that incorporates diffusion-weighted imaging (DWI) with apparent diffusion coefficient (ADC) mapping. METHODS: Between January 2015 and September 2018, 323 consecutive women with adnexal masses diagnosed on transvaginal ultrasound (TVS) underwent standardized MR imaging (MRI) including diffusion and dynamic contrast-enhanced sequences. Of these, 131 underwent subsequent surgery. For interpretation of the MRI examinations, we applied the five-category ADNEX MR scoring system, along with a modified scoring system including DWI with ADC mapping. For both scoring systems, a score was given for all adnexal masses. Histological diagnosis was considered as the gold standard and lesions were classified as benign or malignant. The difference between the predictive values for diagnosing malignancy of the classical and modified scoring systems was assessed on the basis of the areas under the receiver-operating-characteristics (AUC) curves. The sensitivity and specificity for diagnosing malignancy of each score were also calculated. RESULTS: Among the 131 women with adnexal mass(es) diagnosed on TVS who underwent MRI and subsequent surgery, the surgery revealed 161 adnexal masses in 126 women; five women had no mass. Histological examination confirmed 161 adnexal masses, of which all had been detected on MRI: 32 malignant tumors, 15 borderline tumors, which were classified as part of the malignant group (n = 47), and 114 benign lesions. The AUC for prediction of a malignant lesion was 0.938 (95% CI, 0.902-0.975) using the classical ADNEX MR scoring system and 0.974 (95% CI, 0.953-0.996) using the modified scoring system. Pairwise comparison of these AUCs revealed a significant difference (P = 0.0032). The sensitivity and specificity for diagnosing malignancy with an ADNEX MR score of 4 or more were 95.5% and 86.6%, respectively, using the classic scoring system, and 95.7% and 93.3%, respectively, using the modified scoring system. CONCLUSION: DWI with ADC mapping could be integrated into the ADNEX MR scoring system to improve specificity, thereby potentially optimizing clinical management by avoiding unnecessary surgery. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.


Assuntos
Doenças dos Anexos/diagnóstico por imagem , Imagem de Difusão por Ressonância Magnética/métodos , Detecção Precoce de Câncer/estatística & dados numéricos , Neoplasias dos Genitais Femininos/diagnóstico por imagem , Processamento de Imagem Assistida por Computador/estatística & dados numéricos , Anexos Uterinos/diagnóstico por imagem , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Área Sob a Curva , Meios de Contraste , Estudos Transversais , Diagnóstico Diferencial , Detecção Precoce de Câncer/métodos , Feminino , Humanos , Processamento de Imagem Assistida por Computador/métodos , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Estudos Prospectivos , Curva ROC , Sensibilidade e Especificidade , Ultrassonografia/métodos , Vagina , Adulto Jovem
9.
Ultrasound Obstet Gynecol ; 57(6): 959-967, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-32462707

RESUMO

OBJECTIVE: The long-term morbidity associated with isolated left-sided congenital diaphragmatic hernia (CDH) has been described previously. However, antenatal criteria impacting gastrointestinal morbidity (GIM) are not yet defined. The objective of this study was to evaluate the effect of fetal stomach position on the risk of GIM at 2 years of age in children with left-sided CDH. METHODS: This was a retrospective, observational multicenter cohort study of data obtained from January 2010 to January 2014, that included patients whose fetus had isolated left-sided CDH, with or without fetal endoscopic tracheal occlusion (FETO). Prenatal maternal, fetal and pediatric data were collected. Fetal stomach position was evaluated a posteriori by two observers, using ultrasound images at the level of the four-chamber view of the heart that had been obtained to calculate the observed-to-expected lung-area-to-head-circumference ratio (O/E-LHR). Fetal stomach position was graded as follows: Grade 1, stomach not visualized; Grade 2, stomach visualized anteriorly, next to the apex of the heart, with no structure in between the stomach and the sternum; Grade 3, stomach visualized alongside the left ventricle of the heart, and abdominal structures anteriorly; or Grade 4, as Grade 3 but with stomach posterior to the level of the atrioventricular heart valves. The primary outcome was GIM at 2 years of age, assessed in a composite manner, including the occurrence of gastroesophageal reflux disease, need for gastrostomy, duration of parenteral and enteral nutrition and persistence of oral aversion. Regression analysis was performed in order to investigate the effect of O/E-LHR, stomach position and FETO on various GIM outcome variables. RESULTS: Forty-seven patients with fetal left-sided CDH were included in the analysis. Thirteen (27.7%) infants did not meet the criterion of exclusive oral feeding at 2 years of age. Fetal stomach position grade was associated significantly and independently with the duration of parenteral nutrition (odds ratio (OR), 19.86; P = 0.031) and persistence of oral aversion at 2 years (OR, 3.40; P = 0.006). On multivariate analysis, O/E-LHR was predictive of the need for prosthetic patch repair, but not for GIM. FETO did not seem to affect the risk of GIM at 2 years. CONCLUSION: In isolated left-sided CDH, fetal stomach position is the only factor that is predictive of GIM at 2 years of age. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.


Assuntos
Refluxo Gastroesofágico , Hérnias Diafragmáticas Congênitas/diagnóstico por imagem , Estômago/diagnóstico por imagem , Ultrassonografia Pré-Natal , Adulto , Pré-Escolar , Estudos de Coortes , Feminino , França , Idade Gestacional , Hérnias Diafragmáticas Congênitas/fisiopatologia , Humanos , Masculino , Valor Preditivo dos Testes , Gravidez , Estudos Retrospectivos , Estômago/fisiopatologia
10.
Ultrasound Obstet Gynecol ; 58(4): 597-602, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34090308

RESUMO

OBJECTIVE: 22q11.2 deletion is more common than trisomies 18 and 13 combined, yet no routine approach to prenatal screening for this microdeletion has been established. This study evaluated the clinical sensitivity and specificity of a targeted cell-free DNA (cfDNA) test to screen for fetal 22q11.2 deletion in a large cohort, using blinded analysis of prospectively enrolled pregnancies and stored clinical samples. METHODS: In order to ensure that the analysis included a meaningful number of cases with fetal 22q11.2 deletion, maternal plasma samples were obtained by prospective, multicenter enrolment of pregnancies with a fetal cardiac abnormality and from stored clinical samples from a research sample bank. Fetal genetic status, as evaluated by microarray analysis, karyotyping with fluorescence in-situ hybridization or a comparable test, was available for all cases. Samples were processed as described previously for the Harmony prenatal test, with the addition of DANSR (Digital Analysis of Selected Regions) assays targeting the 3.0-Mb region of 22q11.2 associated with 22q11.2 deletion syndrome. Operators were blinded to fetal genetic status. Sensitivity and specificity of the cfDNA test for 22q11.2 deletion were calculated based on concordance between the cfDNA result and fetal genotype. RESULTS: The final study group consisted of 735 clinical samples, including 358 from prospectively enrolled pregnancies and 377 stored clinical samples. Of 46 maternal plasma samples from pregnancies with a 22q11.2 deletion, ranging in size from 1.25 to 3.25 Mb, 32 had a cfDNA result indicating a high probability of 22q11.2 deletion (sensitivity, 69.6% (95% CI, 55.2-80.9%)). All 689 maternal plasma samples without a 22q11.2 deletion were classified correctly by the cfDNA test as having no evidence of a 22q11.2 deletion (specificity, 100% (95% CI, 99.5-100%)). CONCLUSIONS: The results of this large-scale prospective clinical evaluation of the sensitivity and specificity of a targeted cfDNA test for fetal 22q11.2 deletion demonstrate that this test can detect the common and smaller, nested 22q11.2 deletions with a low (0-0.5%) false-positive rate. Although the positive predictive value (PPV) observed in this study population was 100%, the expected PPV in the general pregnant population is estimated to be 12.2% at 99.5% specificity and 41.1% at 99.9% specificity. The use of this cfDNA test to screen for 22q11.2 deletion could enhance identification of pregnancies at risk for 22q11.2 deletion syndrome without significantly increasing the likelihood of maternal anxiety and unnecessary invasive procedures related to a false-positive result. © 2021 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.


Assuntos
Ácidos Nucleicos Livres/sangue , Síndrome de DiGeorge/diagnóstico , Testes para Triagem do Soro Materno/estatística & dados numéricos , Adulto , Síndrome de DiGeorge/embriologia , Feminino , Genótipo , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Análise em Microsséries , Valor Preditivo dos Testes , Gravidez , Estudos Prospectivos , Sensibilidade e Especificidade , Método Simples-Cego
11.
Ultrasound Obstet Gynecol ; 56(5): 656-663, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32281125

RESUMO

OBJECTIVE: To estimate the risk of miscarriage associated with chorionic villus sampling (CVS). METHODS: This was a retrospective cohort study of women attending for routine ultrasound examination at 11 + 0 to 13 + 6 weeks' gestation at one of eight fetal-medicine units in Spain, Belgium and Bulgaria, between July 2007 and June 2018. Two populations were included: (1) all singleton pregnancies undergoing first-trimester assessment at Hospital Clínico Universitario Virgen de la Arrixaca in Murcia, Spain, that did not have CVS (non-CVS group); and (2) all singleton pregnancies that underwent CVS following first-trimester assessment at one of the eight participating centers (CVS group). We excluded pregnancies diagnosed with genetic anomalies or major fetal defects before or after birth, those that resulted in termination and those that underwent amniocentesis later in pregnancy. We used propensity score (PS) matching analysis to estimate the association between CVS and miscarriage. We compared the risk of miscarriage of the CVS and non-CVS groups after PS matching (1:1 ratio). This procedure creates two comparable groups balancing the maternal and pregnancy characteristics that are associated with CVS, in a similar way to that in which randomization operates in a randomized clinical trial. RESULTS: The study population consisted of 22 250 pregnancies in the non-CVS group and 3613 in the CVS group. The incidence of miscarriage in the CVS group (2.1%; 77/3613) was significantly higher than that in the non-CVS group (0.9% (207/22 250); P < 0.0001). The PS algorithm matched 2122 CVS with 2122 non-CVS cases, of which 40 (1.9%) and 55 (2.6%) pregnancies in the CVS and non-CVS groups, respectively, resulted in a miscarriage (odds ratio (OR), 0.72 (95% CI, 0.48-1.10); P = 0.146). We found a significant interaction between the risk of miscarriage following CVS and the risk of aneuploidy, suggesting that the effect of CVS on the risk of miscarriage differs depending on background characteristics. Specifically, when the risk of aneuploidy is low, the risk of miscarriage after CVS increases (OR, 2.87 (95% CI, 1.13-7.30)) and when the aneuploidy risk is high, the risk of miscarriage after CVS is paradoxically reduced (OR, 0.47 (95% CI, 0.28-0.76)), presumably owing to prenatal diagnosis and termination of pregnancies with major aneuploidies that would otherwise have resulted in spontaneous miscarriage. For example, in a patient in whom the risk of aneuploidy is 1 in 1000 (0.1%), the risk of miscarriage after CVS will increase to 0.3% (0.2 percentage points higher). CONCLUSIONS: The risk of miscarriage in women undergoing CVS is about 1% higher than that in women who do not have CVS, although this excess risk is not solely attributed to the invasive procedure but, to some extent, to the demographic and pregnancy characteristics of the patients. After accounting for these risk factors and confining the analysis to low-risk pregnancies, CVS seems to increase the risk of miscarriage by about three times above the patient's background risk. Although this is a substantial increase in relative terms, in pregnancies without risk factors for miscarriage, the risk of miscarriage after CVS remains low and similar to, or slightly higher than, that in the general population. Copyright © 2020 ISUOG. Published by John Wiley & Sons Ltd.


Nuevo enfoque para estimar el riesgo de aborto después de una biopsia de vellosidades coriónicas OBJETIVO: Estimar el riesgo de aborto asociado con la biopsia de vellosidades coriónicas (BVC). MÉTODOS: Se trata de un estudio retrospectivo de cohorte de mujeres que acudieron a un examen ecográfico de rutina entre las 11+0 y las 13+6 semanas de gestación a una de entre un total de ocho centros de medicina fetal en España, Bélgica y Bulgaria, entre julio de 2007 y junio de 2018. En el estudio se incluyeron dos poblaciones: 1) todos los embarazos con feto único sometidos a evaluación del primer trimestre en el Hospital Clínico Universitario Virgen de la Arrixaca de Murcia (España), a las que no se les hizo una BVC (grupo no BVC); y 2) todos los embarazos con feto único sometidos a BVC tras la evaluación del primer trimestre en uno de los ocho centros participantes (grupo BVC). Se excluyeron los embarazos diagnosticados con anomalías genéticas o defectos fetales importantes antes o después del nacimiento, los que resultaron en una interrupción y los que más tarde se sometieron a amniocentesis durante el embarazo. Para estimar la relación entre la BVC y el aborto espontáneo se utilizó el pareamiento por puntaje de propensión (PPP). Se comparó el riesgo de aborto de los grupos BVC y no BVC después del pareamiento PPP (razón 1:1). Este procedimiento creó dos grupos comparables en los que las características de la madre y el embarazo que se asocian con la BVC estaban equilibradas, de manera similar a cómo funciona la aleatorización en un ensayo clínico aleatorizado. RESULTADOS: La población de estudio consistió en 22.250 embarazos en el grupo no BVC y 3.613 en el grupo BVC. La incidencia de abortos en el grupo BVC (2,1%; 77/3.613) fue significativamente mayor que en el grupo no BVC (0,9% (207/22.250); P<0,0001). El algoritmo del PPP emparejó 2.122 BVC con 2.122 casos no BVC, de los cuales 40 (1,9%) y 55 (2,6%) embarazos en los grupos BVC y no BVC, respectivamente, resultaron en un aborto espontáneo (razón de momios (RM), 0,72 (IC 95%, 0,48-1,10); P=0,146). Se encontró una interacción significativa entre el riesgo de aborto espontáneo después de una BVC y el riesgo de aneuploidía, lo que sugiere que el efecto de la BVC en el riesgo de aborto espontáneo difiere según las características del contexto. Concretamente, cuando el riesgo de aneuploidía es bajo, el riesgo de aborto después de una BVC aumenta (RM, 2,87 (IC 95%, 1,13-7,30)) y cuando el riesgo de aneuploidía es alto, paradójicamente el riesgo de aborto después de una BVC se reduce (RM, 0,47 (IC 95%, 0,28-0,76)), presumiblemente debido al diagnóstico prenatal y a la interrupción de embarazos con aneuploidías importantes que, de otro modo, hubieran provocado un aborto espontáneo. Por ejemplo, en una paciente para quien el riesgo de aneuploidía es de 1 entre 1000 (0,1%), el riesgo de aborto después de la BVC aumenta al 0,3% (0,2 puntos porcentuales más alto). CONCLUSIONES: El riesgo de aborto espontáneo en las mujeres que se someten a una BVC es aproximadamente un 1% mayor que el de las mujeres a las que no se les hace, aunque este exceso de riesgo no se atribuye únicamente al procedimiento agresivo sino, en cierta medida, a las características demográficas y del embarazo de cada paciente. Después de tener en cuenta estos factores de riesgo y limitar el análisis a los embarazos de bajo riesgo, la BVC parece triplicar aproximadamente el riesgo de aborto en comparación con el riesgo de fondo de la paciente. Aunque se trata de un aumento sustancial en términos relativos, en los embarazos sin factores de riesgo de aborto, después de una BVC el riesgo de aborto sigue siendo bajo y similar, o ligeramente superior, al de la población en general. Copyright © 2020 ISUOG. Published by John Wiley & Sons Ltd.


Assuntos
Aborto Espontâneo/epidemiologia , Aborto Espontâneo/etiologia , Amostra da Vilosidade Coriônica/efeitos adversos , Medição de Risco/métodos , Adulto , Aneuploidia , Bélgica/epidemiologia , Bulgária/epidemiologia , Feminino , Idade Gestacional , Humanos , Incidência , Razão de Chances , Gravidez , Primeiro Trimestre da Gravidez , Pontuação de Propensão , Estudos Retrospectivos , Fatores de Risco , Espanha/epidemiologia , Ultrassonografia Pré-Natal
12.
Exp Appl Acarol ; 82(4): 571-585, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33128644

RESUMO

Hard ticks (Acari: Ixodidae) act as important vectors of zoonotic pathogens. For instance, Borrelia burgdorferi s.l. spirochetes pose a severe health risk as aetiological agents of Lyme borreliosis. Commonly, to study the abundance of questing (host-seeking) ticks, a 1 m2 piece of cloth is dragged over vegetation for a determined distance. Here, we designed a tick-sampling study to estimate the sampling efficiency of this standard method. We established 10 m dragging transects in a hemiboreal mixed forest patch in SW Finland for a 5-day monitoring period. Five of the transects were cloth-dragged 3× a day, whereas another five transects were dragged 6× a day in a manner that after each morning, midday and afternoon dragging, a second dragging was conducted on the same transect immediately. Captured Ixodes ricinus ticks were subsequently analysed for tick-borne pathogens. The initial population size of nymphal ticks on a transect was approximated by the accumulated nymph catch from the dragging sessions. The sampling efficiency of the cloth dragging was low, as a single dragging in a previously untouched vegetation strip always caught less than 12% (mean 6%) of the estimated population of active nymphs that were assumed to be questing during the study. Clear results were not found for daily activity rhythm, as ticks were caught in all daily dragging sessions. Approximately every third nymph and every second adult carried a pathogen, but nothing indicated that the occurrence of a pathogen affected the likelihood of the tick being caught by cloth dragging. Our results suggest that only a minority of active ticks can be caught by a single cloth dragging. The abundance estimates in many tick investigations might thus be downward biased.


Assuntos
Borrelia burgdorferi , Ixodes , Doença de Lyme , Animais , Finlândia , Ninfa
14.
Ultrasound Obstet Gynecol ; 53(6): 734-742, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31165549

RESUMO

OBJECTIVES: To report on the routine clinical implementation of cell-free DNA (cfDNA) analysis of maternal blood for trisomies 21, 18 and 13 in twin pregnancy and to define the performance of the test by combining our results with those identified in a systematic review of the literature. METHODS: The data for the prospective study were derived from screening for trisomies 21, 18 and 13 in twin pregnancies at 10 + 0 to 14 + 1 weeks' gestation. Two populations were included; first, self-referred women to the Fetal Medicine Centre in London or Brugmann University Hospital in Brussels and, second, women selected for the cfDNA test after routine first-trimester combined testing at one of two National Health Service hospitals in England. This dataset was used to determine the performance of screening for the three trisomies. Search of MEDLINE, EMBASE, CENTRAL (The Cochrane Library), ClinicalTrials.gov and the World Health Organization International Clinical Trials Registry Platform (ICTRP) was carried out to identify all peer-reviewed publications on clinical validation or implementation of maternal cfDNA testing for trisomies 21, 18 and 13 in twin pregnancy. A meta-analysis was then performed using our data and those in the studies identified by the literature search. RESULTS: In our dataset of 997 twin pregnancies with a cfDNA result and known outcome, the test classified correctly 16 (94.1%) of the 17 cases of trisomy 21, nine (90.0%) of the 10 cases of trisomy 18, one (50.0%) of the two cases of trisomy 13 and 962 (99.4%) of the 968 cases without any of the three trisomies. The literature search identified seven relevant studies, excluding our previous papers because their data are included in the current study. In the combined populations of our study and the seven studies identified by the literature search, there were 56 trisomy-21 and 3718 non-trisomy-21 twin pregnancies; the pooled weighted detection rate (DR) and false-positive rate (FPR) were 98.2% (95% CI, 83.2-99.8%) and 0.05% (95% CI, 0.01-0.26%), respectively. In the combined total of 18 cases of trisomy 18 and 3143 non-trisomy-18 pregnancies, the pooled weighted DR and FPR were 88.9% (95% CI, 64.8-97.2%) and 0.03% (95% CI, 0.00-0.33%), respectively. For trisomy 13, there were only three affected cases and two (66.7%) of these were detected by the cfDNA test at a FPR of 0.19% (5/2569). CONCLUSIONS: The performance of cfDNA testing for trisomy 21 in twin pregnancy is similar to that reported in singleton pregnancy and is superior to that of the first-trimester combined test or second-trimester biochemical testing. The number of cases of trisomies 18 and 13 is too small for accurate assessment of the predictive performance of the cfDNA test. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.


Detección de trisomías mediante la prueba del ADN fetal de la sangre materna en el embarazo de gemelos: actualización de los resultados de The Fetal Medicine Foundation y metaanálisis OBJETIVOS: Informar sobre la implementación clínica rutinaria del análisis de ADN fetal (cfDNA, por sus siglas en inglés) de la sangre materna para las trisomías 21, 18 y 13 en embarazos de gemelos y definir el rendimiento de la prueba mediante la combinación de los resultados de este estudio con los identificados en una revisión sistemática de la literatura. MÉTODOS: Los datos para el estudio prospectivo se derivaron del cribado de las trisomías 21, 18 y 13 en embarazos de gemelos entre 10+0 a 14+1 semanas de gestación. Se incluyeron dos poblaciones: la primera, las mujeres que acudieron sin recomendación de especialista al Centro de Medicina Fetal de Londres o al Hospital Universitario Brugmann de Bruselas y, la segunda, las mujeres seleccionadas para la prueba de cfDNA después de la prueba combinada rutinaria del primer trimestre en uno de los dos hospitales del Servicio Nacional de Salud de Inglaterra. Este conjunto de datos se utilizó para determinar el rendimiento de la detección de las tres trisomías. Se realizó una búsqueda en MEDLINE, EMBASE, CENTRAL (The Cochrane Library), ClinicalTrials.gov y en la Plataforma Internacional del Registro de Ensayos Clínicos (ICTRP, por sus siglas en inglés) de la Organización Mundial de la Salud para identificar todas las publicaciones revisadas por pares sobre la validación clínica o la implementación de pruebas de cfDNA materno para las trisomías 21, 18 y 13 en el embarazo de gemelos. A continuación, se realizó un metaanálisis de los datos propios y de los de los estudios identificados por la búsqueda bibliográfica. RESULTADOS: En el conjunto de datos propios de 997 embarazos de gemelos con un resultado de cfDNA conocido, la prueba clasificó correctamente 16 (94,1%) de los 17 casos de trisomía 21, nueve (90,0%) de los 10 casos de trisomía 18, uno (50,0%) de los dos casos de trisomía 13 y 962 (99,4%) de los 968 casos sin ninguna de las tres trisomías. La búsqueda bibliográfica identificó siete estudios relevantes, que excluyeron los artículos de los autores de este estudio ya que sus datos están incluidos en este estudio. En las poblaciones combinadas de este estudio y los siete estudios identificados por la búsqueda bibliográfica, hubo 56 embarazos gemelares con trisomía-21 y 3718 sin trisomía-21; la tasa de detección (TD) combinada ponderada y la tasa de falsos positivos (TFP) fueron del 98,2% (IC 95%: 83,2-99,8%) y del 0,05% (IC 95%: 0,01-0,26%), respectivamente. En el total combinado de los 18 casos de trisomía-18 y los 3143 embarazos sin trisomía-18, la TD combinada ponderada y la TFP fueron del 88,9% (IC 95%, 64,8-97,2%) y del 0,03% (IC 95%, 0,00-0,33%), respectivamente. Para la trisomía 13, sólo hubo tres casos afectados y dos (66,7%) de ellos fueron detectados por la prueba de cfDNA con una TFP del 0,19% (5/2569). CONCLUSIONES: La bondad del desempeño de la prueba de cfDNA para la trisomía 21 en el embarazo de gemelos es similar a la reportada en embarazos con feto único y es superior a la de la prueba combinada del primer trimestre o a la de la prueba bioquímica del segundo trimestre. El número de casos de trisomías 18 y 13 es demasiado pequeño para una evaluación precisa de la bondad de predicción de la prueba de cfDNA.


Assuntos
Ácidos Nucleicos Livres/sangue , Gravidez de Gêmeos/sangue , Diagnóstico Pré-Natal , Trissomia/diagnóstico , Feminino , Humanos , Testes para Triagem do Soro Materno , Gravidez , Sociedades Médicas
15.
Ultrasound Obstet Gynecol ; 54(6): 791-799, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30644623

RESUMO

OBJECTIVE: To compare the diagnostic rate and accuracy of 3-Tesla (T) postmortem magnetic resonance imaging (PM-MRI) and postmortem ultrasound (PM-US) in an unselected fetal population. METHODS: We performed prospectively, in a blinded manner, 3-T PM-MRI and PM-US on 160 unselected fetuses at 13-41 weeks of gestation. All imaging was reported according to a prespecified template, for five anatomical regions: brain, thorax, heart, abdomen and spine. The rates of non-diagnostic results for PM-US and PM-MRI were compared and, for results that were diagnostic, we calculated sensitivity, specificity and concordance rates for each anatomical region, using conventional autopsy as the reference standard. RESULTS: 3-T PM-MRI performed significantly better than did PM-US overall and in particular for fetuses ≥ 20 weeks' gestation. Specifically, the non-diagnostic rates for PM-MRI vs PM-US were 4.4% vs 26.9% (7/160 vs 43/160; P < 0.001) for the brain, 5.2% vs 17.4% (8/155 vs 27/155; P < 0.001) for the thorax, 3.8% vs 30.6% (6/157 vs 48/157; P < 0.001) for the heart and 3.2% vs 23.6% (5/157 vs 37/157; P < 0.001) for the abdomen. For the spine, both techniques showed an equally low non-diagnostic rate. When both postmortem imaging techniques were diagnostic, they had similar accuracy, with no difference in sensitivity or specificity, and similar concordance with autopsy (PM-US, 79.5-96.5%; PM-MRI, 81.6-99.1%). CONCLUSIONS: PM-MRI performed significantly better than PM-US in this unselected population, due mainly to a lower non-diagnostic rate. PM-MRI should remain the first-line imaging investigation for perinatal autopsy, but PM-US could be considered if MRI is not available, albeit with a higher non-diagnostic rate. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.


Assuntos
Autopsia/métodos , Morte Fetal/etiologia , Feto/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Ultrassonografia/métodos , Abdome/diagnóstico por imagem , Aborto Induzido/estatística & dados numéricos , Autopsia/estatística & dados numéricos , Autopsia/tendências , Bélgica/epidemiologia , Encéfalo/diagnóstico por imagem , Causas de Morte , Feminino , Feto/patologia , Idade Gestacional , Coração/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética/estatística & dados numéricos , Gravidez , Estudos Prospectivos , Sensibilidade e Especificidade , Coluna Vertebral/diagnóstico por imagem , Tórax/diagnóstico por imagem , Ultrassonografia/estatística & dados numéricos
16.
Ultrasound Obstet Gynecol ; 53(2): 229-238, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-28782198

RESUMO

OBJECTIVE: To assess the diagnostic accuracy of postmortem ultrasound performed by operators blinded to prenatal findings and to invasive autopsy results in fetuses at different gestational ages and to investigate the effect of various parameters on its diagnostic success. METHODS: We performed postmortem two-dimensional ultrasound examination, blinded to clinical details, on 163 fetuses at 13-42 weeks' gestation. Logistic regression analysis was used to investigate the effect of: (i) gestational age at postmortem ultrasound, (ii) presence of maceration and (iii) mode of death, on whether the exam succeeded or failed to reach a diagnosis. In 123 cases in which invasive autopsy was available, the diagnostic accuracy of ultrasound in detecting major organ abnormalities was evaluated, using invasive autopsy as the gold standard. RESULTS: For the fetal brain, postmortem ultrasound exam was non-diagnostic in significantly more fetuses with maceration (39.5%; 17/43) vs those without maceration (20.0%; 24/120) (P = 0.013). For the fetal thorax, the exam was non-diagnostic in 34.1% (15/44) of fetuses < 20 weeks of gestation and in 10.9% (13/119) of fetuses ≥ 20 weeks (P < 0.001). For the heart and abdominal organs, there was no association between non-diagnostic postmortem ultrasound and the variables tested. For fetuses < 20 weeks, specificity of postmortem ultrasound examination was 83.3% for detection of anomalies of the brain, 68.6% for the thorax and 77.4% for the heart. For fetuses ≥ 20 weeks, sensitivity and specificity were, respectively, 61.9% and 74.2% for detection of anomalies of the brain, 29.5% and 87.0% for the thorax and 65.0% and 83.1% for the heart. For the fetal abdominal organs, sensitivity was 60.7% and specificity 75.8%, and postmortem ultrasound was particularly useful for detection of abnormalities of the kidneys, irrespective of gestational age. CONCLUSION: Although maceration may lead to failure of postmortem ultrasound examination in some cases, this technique achieves diagnostically acceptable levels of accuracy for fetal brain and abdominal organs, compared with conventional autopsy. It may therefore play a role as a first-line examination before other virtual autopsy techniques are indicated. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.


Assuntos
Autopsia/métodos , Morte Fetal/etiologia , Feto/diagnóstico por imagem , Ultrassonografia/métodos , Aborto Espontâneo/etiologia , Feminino , Idade Gestacional , Humanos , Gravidez , Estudos Prospectivos , Análise de Regressão , Sensibilidade e Especificidade , Método Simples-Cego
17.
Ultrasound Obstet Gynecol ; 52(3): 318-324, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28833712

RESUMO

OBJECTIVES: To evaluate in twin pregnancy the utility of non-invasive prenatal testing using circulating cell-free fetal DNA (cfDNA) in screening for the three main autosomal fetal trisomies. METHODS: cfDNA testing was offered to 492 patients with a twin pregnancy without ultrasound anomaly as a first-line screening test or after routine serum screening. Data were collected prospectively and a retrospective analysis was performed. cfDNA analysis was performed by massively parallel sequencing. The fetal-fraction threshold used for test evaluation was 8%. Regression analysis was performed to investigate the effect on the test failure rate of maternal and pregnancy characteristics, and the performance of the test was also reported. RESULTS: cfDNA analysis was performed as a first-line test (after the first-trimester scan) in 377 patients and following serum screening in 115. Of the 420 pregnancies for which outcome was available and cfDNA screening was assessed, 78.7% were dichorionic-diamniotic. The test failed on the first attempt in 12 (2.9%) pregnancies, and regression analysis demonstrated that only maternal weight was a significant independent predictor of test failure. A result was subsequently achieved in the 10 cases for which a second sample was obtained. cfDNA analysis identified all three cases of trisomy 21 and the only case of trisomy 18. For trisomy 21, the specificity was 99.8% (95% CI, 98.7-100.0%). When considering pregnancies according to whether they were conceived spontaneously or after assisted reproductive technology, there were no significant differences in terms of maternal weight or no-result rate for cfDNA screening between these two groups. CONCLUSIONS: In twin pregnancy without fetal ultrasound abnormality, cfDNA screening for trisomies 21, 18 and 13 had a high success rate and good performance. Therefore, in routine practice, cfDNA analysis could be considered as a first- or second-line screening test. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.


Assuntos
Ácidos Nucleicos Livres/sangue , Síndrome de Down/diagnóstico , Gravidez de Gêmeos/sangue , Síndrome da Trissomia do Cromossomo 13/diagnóstico , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Adulto , Síndrome de Down/sangue , Feminino , Idade Gestacional , Humanos , Cariotipagem/métodos , Pessoa de Meia-Idade , Análise Multivariada , Valor Preditivo dos Testes , Gravidez , Estudos Prospectivos , Estudos Retrospectivos , Síndrome da Trissomia do Cromossomo 13/sangue , Síndrome da Trissomía do Cromossomo 18/sangue
18.
Ultrasound Obstet Gynecol ; 51(2): 208-213, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-28295742

RESUMO

OBJECTIVE: Congenital diaphragmatic hernia (CDH) is a severe anomaly. The observed-to-expected lung-area-to-head-circumference ratio (o/e-LHR) has been shown to provide a useful prediction of subsequent survival of fetuses with CDH in referral centers with expertise and a large caseload. However, the accuracy of o/e-LHR measurements in general fetal medicine units with less expertise is not well known. The aim of this study was to evaluate the capacity of o/e-LHR to provide a useful prediction of mortality of fetuses with CDH when the measurement is performed in fetal medicine units with different levels of expertise. METHODS: Between January 2008 and November 2013, 305 live births with expectantly managed left-sided isolated CDH were recorded in the database of the French National Center for Rare Diseases (31 centers) and followed up after birth. Centers were grouped into two categories according to their mean annual CDH caseload over the study period: large centers with an average of ≥ 14 cases and smaller centers with < 14 cases per year. The relationship between o/e-LHR and 28-day and 6-month mortality was modeled using fractional polynomials and the predictive value of o/e-LHR was quantified using the area under the receiver-operating characteristics curve. Comparisons between the two center categories were carried out. Analyses were adjusted for potential confounders such as thoracic herniation of the liver and gestational age at birth and at diagnosis. RESULTS: During the study period, two large centers managed a total of 82 CDH cases and 29 smaller centers a total of 223 CDH cases. Overall, there was a significant inverse relationship between 28-day mortality rate and o/e-LHR, which decreased from 54% when o/e-LHR was 20% to 6% when o/e-LHR was 75% (P < 0.01). When the category of center was considered, adjusted associations between o/e-LHR and 28-day mortality were significantly different (P = 0.032) between large and smaller centers. The ability to predict survival at 28 days postpartum based on o/e-LHR was better in large centers; for a specificity of 0.30, the sensitivity was 0.71 in large centers and 0.55 in smaller ones. The results were similar for 6-month mortality. CONCLUSIONS: Our results show that o/e-LHR measured on two-dimensional ultrasound is a good indicator of neonatal prognosis in cases of CDH that may be used even in fetal medicine centers with a small caseload. However, our results also suggest that LHR measurement may be difficult to perform correctly. Therefore, appropriate training should be offered to professionals. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.


Assuntos
Cefalometria/métodos , Doenças Fetais/diagnóstico por imagem , Cabeça/diagnóstico por imagem , Hérnias Diafragmáticas Congênitas/diagnóstico por imagem , Pulmão/diagnóstico por imagem , Ultrassonografia Pré-Natal , Adulto , Feminino , Doenças Fetais/mortalidade , França , Idade Gestacional , Cabeça/embriologia , Cabeça/patologia , Hérnias Diafragmáticas Congênitas/embriologia , Hérnias Diafragmáticas Congênitas/mortalidade , Hérnias Diafragmáticas Congênitas/patologia , Humanos , Pulmão/embriologia , Pulmão/patologia , Valor Preditivo dos Testes , Gravidez , Reprodutibilidade dos Testes , Estudos Retrospectivos , Análise de Sobrevida
19.
Ultrasound Obstet Gynecol ; 52(6): 776-783, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25130705

RESUMO

OBJECTIVES: To evaluate postmortem ultrasound (PM-US) for minimally invasive autopsy, and to demonstrate its feasibility, sensitivity and specificity, as compared with conventional autopsy, in detecting major congenital abnormalities. METHODS: Over a 19-month study period from 1 March 2012 to 30 September 2013, we recruited from a referral hospital 88 consecutive fetuses, at 11-40 weeks' gestation, which had undergone termination, miscarriage or intrauterine fetal death. We performed PM-US using different transducers and compared the data with those from conventional autopsy. The latter was performed, according to the Societé Francaise de Foetopathologie (France) guidelines, by experienced perinatal pathologists who were blinded to the ultrasound data. RESULTS: Complete virtual autopsy by ultrasound was possible in 95.5% of the cases. The sensitivity of PM-US for detecting brain abnormalities was 90.9% (95% CI, 58.7-99.8%) and the specificity was 87.3% (95% CI, 75.5-94.7%). In 20% of cases, a neuropathological examination was not possible due to severe maceration. The sensitivity for detection of thoracic abnormalities was 88.9% (95% CI, 65.3-98.6%) and the specificity was 92.8% (95% CI, 84.1-97.6%), and the sensitivity for detection of abdominal anomalies was 85.7% (95% CI, 57.2-98.2%) and the specificity was 94.6% (95% CI, 86.7-98.5%). CONCLUSION: This pilot study confirms the feasibility of PM-US for virtual autopsy as early as 11 weeks' gestation. This new technique shows high sensitivity and specificity in detecting congenital structural abnormalities as compared with conventional autopsy. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.


Assuntos
Autopsia/instrumentação , Anormalidades Congênitas/diagnóstico , Ultrassonografia Pré-Natal/métodos , Autopsia/métodos , Estudos de Viabilidade , Feminino , Idade Gestacional , Humanos , Projetos Piloto , Gravidez , Estudos Prospectivos , Sensibilidade e Especificidade
20.
Ultrasound Obstet Gynecol ; 52(2): 250-257, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-28508549

RESUMO

OBJECTIVE: To evaluate the performance of a simple semi-automated method for estimation of fetal weight (EFW) using magnetic resonance imaging (MRI) as compared with two-dimensional (2D) ultrasound (US) for the prediction of large-for-dates neonates. METHODS: Data of two groups of women with singleton pregnancy between March 2011 and May 2016 were retrieved from our database and evaluated retrospectively: the first group included women who underwent US-EFW and MRI-EFW within 48 h before delivery and the second group included women who had these evaluations between 35 + 0 weeks and 37 + 6 weeks of gestation, more than 48 h before delivery. US-EFW was based on Hadlock et al. and MRI-EFW on the formula described by Baker et al. For MRI-EFW, planimetric measurement of the fetal body volume (FBV) was performed using a semi-automated method and the time required for measurement was noted. Outcome measure was the performance of MRI-EFW vs US-EFW in the prediction of large-for-dates neonates, both ≤ 48 h and > 48 h before delivery. Receiver-operating characteristics (ROC) curves for each method were compared using the DeLong method. RESULTS: Of the 270 women included in the first group, 48 (17.8%) newborns had birth weight ≥ 90th centile and 30 (11.1%) ≥ 95th centile. The second group included 83 women, and nine (10.8%) newborns had birth weight ≥ 95th centile. Median time needed for FBV planimetric measurements in all 353 fetuses was 3.5 (range, 1.5-5.5) min. The area under the ROC curve (AUC) for prediction of large-for-dates neonates by prenatal MRI performed within 48 h before delivery was significantly higher than that by US (for birth weight ≥ 90th centile, difference between AUCs = 0.085, standard error (SE) = 0.020, P < 0.001; for birth weight ≥ 95th centile, difference between AUCs = 0.036, SE = 0.014, P = 0.01). Similarly, MRI-EFW was better than US-EFW in predicting birth weight ≥ 95th centile when both examinations were performed > 48 h prior to delivery (difference between AUCs = 0.077, SE = 0.039, P = 0.045). CONCLUSION: MRI planimetry using our purpose-designed semi-automated method is not time-consuming. The predictive performance of MRI-EFW performed immediately prior to or remote from delivery is significantly better than that of US-EFW for the prediction of large-for-dates neonates. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.


Assuntos
Macrossomia Fetal/diagnóstico por imagem , Imageamento por Ressonância Magnética , Ultrassonografia Pré-Natal , Adulto , Peso ao Nascer , Feminino , Peso Fetal , Humanos , Recém-Nascido , Masculino , Valor Preditivo dos Testes , Gravidez , Resultado da Gravidez , Terceiro Trimestre da Gravidez , Estudos Retrospectivos
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