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Antenatal ear examination is an integral part of the thorough examination of the fetal face. The discovery of an anomaly, whether it is made by chance or during a complementary in-depth examination, leads the practitioner to determine its isolated or associated character, in order to characterise its possible belonging to a syndromic entity. In this context, the realization of genetic analysis more precise and wider allowing a return of the results in a time compatible with an evolutive pregnancy, gives to the geneticist a central role in the management of these couples. The main challenge lies in obtaining a set of concordant clinical and biological clues, enabling the genetic results identified to be interpreted correctly, the optimised functioning of the ultrasound practitioner - geneticist duo is therefore fundamental. This results in a complex information to deliver, in the fact that the clinical translation of an ear anomaly in antenatal can go from an isolated aesthetic anomaly to a genetic syndrome with neurodevelopmental disorder. The objective of this work is to describe, from a methodological analysis of antenatal ears, the accessible malformative entities, isolated or associated, and to discuss the problems in the need or not to propose their screening.
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Pruebas Genéticas , Tamizaje Masivo , Femenino , Humanos , Embarazo , Ultrasonografía , Ultrasonografía Prenatal/métodosRESUMEN
STUDY QUESTION: Could we construct and validate a preoperative score to predict rectosigmoid involvement in endometriosis (RE)? SUMMARY ANSWER: We developed a simple preoperative score (ENDORECT) to predict RE. WHAT IS KNOWN ALREADY: Accurate preoperative classification is important to optimize the surgical approach for patients with endometriosis but there is currently no reliable first-line examination to determine RE. STUDY DESIGN SIZE DURATION: This was a single-centre observational study including all women (N = 119) who underwent complete surgery for endometriosis between January 2011 and June 2016 in the Gynaecological Department of the University Hospital of Poissy Saint-Germain en Laye. PARTICIPANTS/MATERIALS SETTING METHODS: Of the 119 women, 47 had RE and 72 did not. Two-thirds of the patients were randomly selected to derive the predictive score based on multiple logistic regression with internal validation by bootstrap. We used information from a self-assessment questionnaire, digital and speculum examination, transvaginal ultrasound and MRI. The score was then applied to the remaining sample of patients for validation. MAIN RESULTS AND THE ROLE OF CHANCE: Four variables were independently associated with RE: palpation of a posterior nodule on digital examination (aOR=5.6; 95%CI [1.7-21.8]); a UBESS score of 3 on ultrasonography (aOR=4.9; 95%CI [1.4-19.8); RE infiltration on MRI (aOR=6.8; 95%CI [2-25.5]); and presence of blood in the stools during menstruation (aOR=5.2; 95%CI [1.3-24.7]). The ROC-AUC of the model was 0.86 (95%CI [0.77-0.94]) and the bootstrap procedure showed that the model was stable. The ENDORECT score was derived from these four criteria and three risk groups were identified: the high-risk group (score>17) had a probability of RE of 100% with an specificity (Sp) of 100%, postive likelihood ratio (Lr+)>10; the intermediate-risk group (score: 7-17) had a probability of RE of 42%; and the low-risk group (score=0), with a sensitivity (Se) of 97%, negative likelihood ratio (Lr-) of 0.07 and a probability of RE of 5%. In the validation cohort, a score >17 predicted RE with an Sp of 96, Lr+ of 9.2, and probability of RE of 83%. Patients in this sample with a score=0, had an Se of 100%, Lr- of 0 and a probability of RE of 0%. LIMITATIONS REASONS FOR CAUTION: The single-centre recruitment and over-representation of RE could constitute a referral bias. WIDER IMPLICATIONS OF THE FINDINGS: The use of a preoperative predictive score could facilitate patient counselling and guide surgical management. Both MRI and transvaginal ultrasound provide independent information and are useful before surgery for RE. STUDY FUNDING/COMPETING INTERESTS: No financial support was specifically received for this study. The authors declare no conflict of interest. TRIAL REGISTRATION NUMBER: N/A.
RESUMEN
OBJECTIVES: Surgical management of endometriosis may require different levels of surgical skill which influences the orientation of the patient. The Ultrasound-Based Endometriosis Staging System (UBESS) is a score developed in 2016 to predict the difficulty of surgery. To study the correlation between UBESS score and two main surgical classifications in the literature. METHODS: Study performed at the center of Poissy, France, between July 2016 and December 2017. Patients who underwent prospective UBESS staging then operated of their endometriosis were included. The patients were classified according to the levels of surgical difficulty of the Royal College of Obstetricians and Gynecologists (RCOG) and the classification created by Chi et al. The criterion of judgment was the correlation between the UBESS stages and RCOG and CHI levels. In a second analysis, we determined the predictive value of the operative plan for items included in the systematic sonographic evaluation described by Menakaya et al. RESULTS: Thirty-three patients were included in the study. Correlation was found to be low between UBESS and RCOG (θ=0.22) and between UBESS and CHI (θ=0.30). The prediction of the operative plan was good for endometrioma, sites specific tenderness, sliding sign, vaginal and digestive tract involvement; but modest for the anterior compartment and uterosacrals ligaments. CONCLUSION: In our study on a small number of patients, the UBESS score does not adequately predict the surgical difficulty. Taken separately, the items of systematic sonographic evaluation based on 5 domains successfully predict the operative plan.
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Endometriosis/clasificación , Endometriosis/cirugía , Procedimientos Quirúrgicos Ginecológicos/métodos , Ultrasonografía , Adulto , Competencia Clínica , Endometriosis/diagnóstico por imagen , Femenino , Francia , Humanos , Estudios RetrospectivosRESUMEN
OBJECTIVES: To assess and compare the diagnostic accuracy of transvaginal ultrasonography (TVUS) by trained or untrained ultrasound operators in deep infiltrating endometriosis (DIE) imaging, for diagnosing DIE and bowel involvement. METHODS: This was an observational study of patients with clinically suspected DIE operated in a reference center. TVUS was performed pre-operatively by a trained or/and untrained ultrasound operator to search for DIE and rectal involvement. During surgery, DIE was diagnosed according to macroscopic and histological criteria. Sensitivity (Se), specificity (Sp) and c-index were calculated with 95% confidence intervals for trained and untrained operators, if TVUS results were significantly predictive of DIE and rectal involvement at p<0.05. RESULTS: 115 patients were included: 100 (87%) had DIE and 34 (29.6%) had bowel involvement. TVUS was performed by a trained ultrasound operator for 70 patients and by an untrained one for 56 patients. When performed by a trained operator, TVUS significantly predicted DIE with a Se of 58% (95% CI, 46-70), a Sp of 87.5% (95% CI, 63-100) and a c-index of 0.73 (95% CI, 0.59-0.87). TVUS performed by an untrained operator was not significantly predictive of DIE (p=0.58). Rectal involvement was significantly predicted by TVUS performed by a trained operator with a Se of 40% (95% CI, 23-59), a Sp of 93% (95% CI, 86-100) and a c-index of 0.67 (95% CI, 0.56-0.77). None of the untrained ultrasound operators diagnosed a bowel involvement. CONCLUSION: TVUS is not sufficient to diagnose DIE and bowel involvement, in particular when performed by untrained ultrasound operators.