153 research outputs found

    Entwicklungen in der Pränataldiagnostik: verändertes Erleben der Schwangerschaft und Auswirkungen bei pathologischem fetalen Befund

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    'Die Weiterentwicklung der Pränataldiagnostik hat die Betreuung schwangerer Frauen stetig verändert, und auch von den Frauen wird eine Schwangerschaft heute völlig anders erlebt als noch vor wenigen Jahrzehnten. Trotz erheblicher Fortschritte in der medizinischen Versorgung sind aber noch längst nicht alle Erkrankungen des Kindes therapeutisch zu beeinflussen; insbesondere nach Feststellung einer genetisch bedingten Erkrankung oder Behinderung des Kindes stellt sich für die Frauen und ihre Partner oft die Frage danach, ob sie die Schwangerschaft fortsetzen können. Betroffene Frauen bzw. Paare reagieren auf solche Situationen nicht selten mit einer Schock-Reaktion, und auch langfristig können sich psychische Probleme einstellen, unabhängig davon, ob die Schwangerschaft ausgetragen oder wegen einer medizinischen Indikation gemäß Paragraf 218a Abs. 2 StGB abgebrochen wurde. Um die Betroffenen in einer solchen Krisensituation zu unterstützen und sie auch im Entscheidungsprozess zu begleiten wurde an drei Modellstandorten (Bonn, Düsseldorf und Essen) eine psychosoziale Beratung etabliert, wobei diese psychosoziale Beratung zusätzlich zur ärztlichen Beratung unabhängig von konfessioneller oder nicht-konfessioneller Ausrichtung ergebnisoffen erfolgt. Die wissenschaftliche Evaluation von insgesamt 512 Erstberatungen und die Verlaufsuntersuchung über zwei Jahre zeigte eine hohe Akzeptanz der Beratung von Seiten der Betroffenen. Viele Argumente sprechen dafür, eine solche Beratung als Regelangebot im Kontext von Pränatalmedizin zu etablieren.' (Autorenreferat)'The further development of prenatal diagnosis has led to changes in the care for pregnant women. Also, pregnant women nowadays experience pregnancy in a way very different from that a few decades ago. Despite of impressive medical progress, it is still not possible to have an therapeutic impact on all diseases of the foetus and the child. In particular, when a genetic disorder is diagnosed, the question arises whether or not the pregnancy should be continued. More often than not, women or couples, respectively, display a shock reaction following this disclosure. In the long run, psychological problems may evolve, regardless of the continuation of the pregnancy or its termination (abortion) on grounds of article 218a, 2 StGB (German Criminal Code) for medical reasons. For providing support to these women in crisis and for accompanying the decision-making process, psychosocial counselling has been established in three demonstration sites (Bonn, Düsseldorf and Essen). This counselling had been offered in addition to the medical counselling and has been performed in an unbiased manner, regardless of the denominational orientation of the responsible body. The assessment of 512 first-time counselling sessions as well as the accompanying two-year evaluation study show that this kind of counselling has been widely accepted by the affected women. There are striking arguments for establishing psychosocial counselling as a scheduled part of counselling in prenatal diagnosis.' (author's abstract)

    Percent error of ultrasound examination to estimate fetal weight at term in different categories of birth weight with focus on maternal diabetes and obesity

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    Background: Sonography based estimate of fetal weight is a considerable issue for delivery planning. The study evaluated the influence of diabetes, obesity, excess weight gain, fetal and neonatal anthropometrics on accuracy of estimated fetal weight with respect to the extent of the percent error of estimated fetal weight to birth weight for different categories. Methods: Multicenter retrospective analysis from 11,049 term deliveries and fetal ultrasound biometry performed within 14 days to delivery. Estimated fetal weight was calculated by Hadlock IV. Percent error from birth weight was determined for categories in 250 g increments between 2500 g and 4500 g. Estimated fetal weight accuracy was categorized as accurate +/- 10% - +/- 20% and > 20%. Results: Diabetes was diagnosed in 12.5%, obesity in 12.6% and weight gain exceeding IOM recommendation in 49.1% of the women. The percentage of accurate estimated fetal weight was not significantly different in the presence of maternal diabetes (70.0% vs. 71.8%, p = 0.17), obesity (69.6% vs. 71.9%, p = 0.08) or excess weight gain (71.2% vs. 72%, p = 0.352) but of preexisting diabetes (61.1% vs. 71.7%; p = 0.007) that was associated with the highest macrosomia rate (26.9%). Mean percent error of estimated fetal weight from birth weight was 2.39% +/- 9.13%. The extent of percent error varied with birth weight with the lowest numbers for 3000 g-3249 g and increasing with the extent of birth weight variation: 5% +/- 11% overestimation in the lowest and 12% +/- 8% underestimation in the highest ranges. Conclusion: Diabetes, obesity and excess weight gain are not necessarily confounders of estimated fetal weight accuracy. Percent error of estimated fetal weight is closely related to birth weight with clinically relevant over- and underestimation at both extremes. This work provides detailed data regarding the extent of percent error for different birth weight categories and may therefore improve delivery planning

    Evaluation of an OSCE’s implementation and a two-step approach for a theoretical and practical training program in Obstetrics and Gynecology

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    Objective structured clinical examination (OSCE) is a well-known assessment method to evaluate clinical skills and competence in healthcare. Following the recently reformed National Competence-Based Catalog of Learning Objectives in Medicine, the implementation of this assessment method in the training program for medical students is now obligatory in Germany. This major change requires a reorganization not only of the training programs but also of the students themselves and the way they learn. We performed a poll evaluating the students’ opinions regarding these major changes and the implementation of the OSCE with a new training program. To implement this assessment method and to evaluate the OSCE, Kern’s six-step approach comprising (1) problem identification and general needs assessment, (2) needs assessment of the targeted learners, (3) goals and objectives, (4) educational strategies, (5) implementation, and (6) evaluation and feedback was applied. To evaluate and gather feedback, a poll was used to analyze the student’s opinions regarding OSCE in gynecology and obstetrics and OSCE in general, in addition to the regular analysis of the students’ results. To reform the educational strategy, a two-step approach was developed: First, the students completed the regular training program and a written examination, and second, they participated in a 1-week clerkship, in small group teaching, and in the OSCE. The OSCE stations were developed primarily based on the National Competence-Based Catalog and the German Catalog of Learning Objectives in Medicine, as well as on the feedback of experts reflecting their expectations for physicians beginning their careers. The students performed well in the OSCE and gave positive feedback regarding this examination method. Furthermore, they welcomed the upcoming changes by considering OSCE a valuable assessment tool, and they showed appreciation for the two-step approach by supporting the combination of an OSCE and a written examination. Thus, this article presents the implementation of an OSCE and a strategy for the adaptation of the curriculum to fulfill the new OSCE requirements and—to our knowledge—reveals students’ primary opinions regarding the changes in their medical training program for the first time

    DEGUM, ÖGUM, SGUM and FMF Germany Recommendations for the Implementation of First-Trimester Screening, Detailed Ultrasound, Cell-Free DNA Screening and Diagnostic Procedures

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    First-trimester screening between 11 + 0 and 13 + 6 weeks with qualified prenatal counseling, detailed ultrasound, biochemical markers and maternal factors has become the basis for decisions about further examinations. It detects numerous structural and genetic anomalies. The inclusion of uterine artery Doppler and PlGF screens for preeclampsia and fetal growth restriction. Low-dose aspirin significantly reduces the prevalence of severe preterm eclampsia. Cut-off values define groups of high, intermediate and low probability. Prenatal counseling uses detection and false-positive rates to work out the individual need profile and the corresponding decision: no further diagnosis/screening - cell-free DNA screening - diagnostic procedure and genetic analysis. In pre-test counseling it must be recognized that the prevalence of trisomy 21, 18 or 13 is low in younger women, as in submicroscopic anomalies in every maternal age. Even with high specificities, the positive predictive values of screening tests for rare anomalies are low. In the general population trisomies and sex chromosome aneuploidies account for approximately 70 % of anomalies recognizable by conventional genetic analysis. Screen positive results of cfDNA tests have to be proven by diagnostic procedure and genetic diagnosis. In cases of inconclusive results a higher rate of genetic anomalies is detected. Procedure-related fetal loss rates after chorionic biopsy and amniocentesis performed by experts are lower than 1 to 2 in 1000. Counseling should include the possible detection of submicroscopic anomalies by comparative genomic hybridization (array-CGH). At present, existing studies about screening for microdeletions and duplications do not provide reliable data to calculate sensitivities, false-positive rates and positive predictive values

    Clinical spectrum of female genital malformations in prenatal diagnosis

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    Introduction Fetal genital malformations represent a rare and heterogeneous group of congenital malformations of the disorders of sexual development (DSD) spectrum. Methods A thorough literature review on the main topics in the prenatal approach towards DSD was conducted. Results First, a thorough overview on prenatal characteristics of the most common fetal genital malformations of ovaries, uterus and external genitalia, and second, a standardized approach for differential diagnosis in the presence of direct and indirect prenatal signs of DSDs. Conclusions This review is mainly directed towards the aspects of female genital malformations with aspects of male DSD explained as well to aid in the prenatal differential diagnosis
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