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Objective: to assess the course and outcome of fetuses affected by primary cardiomyopathy (CM). Methods: Retrospective study of 21 cases with prenatal diagnosis of a primary CM in one tertiary center over a period of 20 years. Charts were reviewed for echocardiographic findings, pregnancy outcome, and postnatal course. The utility of prenatal evaluation was discussed. Results: The mean gestational age (GA) at diagnosis was 26.7 (±5.1) weeks. A total of 33.3% (7/21) had associated anomalies. Genetic etiology was confirmed in 50.0% (10/20, with one case lost to follow up). The overall survival rate of the entire study population was 40% (8/20) including termination of pregnancy in 20% (4/20) and an intrauterine mortality rate of 5% (1/20). Of the initial survivors (n = 15), a neonatal and early infant mortality rate of 46.7% (7/15) was calculated. Prenatal isolated right ventricular involvement was the only identified significant parameter for survival (p = 0.035). Four phenotypical groups were identified: 42.9% (9/21) hypertrophic (HCM), 38.1% (8/21) dilated (DCM), 14.3% (3/21) isolated noncompaction (NCCM), and 4.8% (1/21) restrictive CM (RCM). Fetuses assigned to isolated NCCM revealed a 100% survival rate. Conclusion: Prenatal detection is feasible but needs to a introduce classification method for better consulting and management practices. A poor outcome is still observed in many cases, but an increase in examiners’ awareness may influence optimal multispecialized care.

ZusammenfassungAuch im Praktischen Jahr (PJ) müssen zukünftig verbesserte und praxisorientiertere Lehrkonzepte etabliert werden, um sich an die neuesten gesetzlichen Vorgaben der medizinischen Ausbildung anzupassen. Die neue ärztliche Approbationsordnung zielt dabei auf ein Absolventenprofil ab, das verstärkt auf dem Modell der kompetenzbasierten Lehre und der „entrustable professional activities“ (EPAs) basiert. Besonders in im Fachgebiet der Frauenheilkunde ist es von besonderer Bedeutung, früh wichtige Schlüsselfähigkeiten, auch im Sinne der Patientinnensicherheit, zu erlernen. Durch die Integration der EPAs ergeben sich sowohl für Studierende als auch für die Kliniken Vorteile: Studierende erlangen eine praxisnahe Ausbildung, die sie auf den Berufsalltag bestmöglich vorbereitet; Kliniken können wiederum eine bessere Patientenversorgung sicherstellen und ihr ärztliches Team mit gut ausgebildeten Berufseinsteigenden stärken. Um EPAs in das PJ integrieren zu können, müssen diese im ersten Schritt erstellt und inhaltlich definiert werden. International wurden bereits Frauenheilkunde-spezifische EPAs entwickelt; diese lassen sich allerdings nur bedingt in Deutschland anwenden. Hier sind größere Modifikationen notwendig. Um eine erfolgreiche Integration von EPAs in den Klinikalltag zu gewährleisten, müssen innerhalb der Kliniken vermehrt Ressourcen für die Betreuung und Anleitung der Studierenden mobilisiert werden. Dies soll zukünftig die Kompetenz junger Ärzte in den Berufsalltag in der Gynäkologie und Geburtshilfe stärken und sowohl Verantwortungsbewusstsein als auch die klinisch-praktischen Kompetenzen stärken.

Objective: The aim of the objective was to compare the detection rate for trisomy 21 of universal cell free DNA (cfDNA) screening with contingent screening. Methods: Retrospective study was carried out at 3 German centers. The study included euploid and trisomy 21 pregnancies where cfDNA and first trimester (FT) screening assessment was carried out. The FT risk for trisomy 21 was computed based on combined screening and stratified into the following classes: high risk ≥1:10, intermediate risk 1:11–1,000, low risk ≤1,001. For universal cfDNA screening, the cfDNA test results were examined. For the contingent screening model, the result of the cfDNA test was taken into account in case of an intermediate FT risk. Different strategies combining maternal age, nuchal translucency, nasal bone, beta-hCG, and PAPP-A were evaluated. Screen positivity was defined as either a high risk after FT screening or a cfDNA test indicating a high-risk result. An inconclusive cfDNA test was also considered as screen positive. Results: The search of the database identified 2,255 euploid and 163 affected pregnancies. All affected fetuses were identified by universal cfDNA screening. 1.3% of the euploid fetuses were classified as screen positive due to final inconclusive cfDNA test result. The detection and false-positive rate of a contingent approach that is based on combined screening and cfDNA screening in the intermediate group would be 98.4% and 0.7%, respectively. With this approach, cfDNA screening would be necessary in only about 27% of all pregnancies. Conclusion: This study demonstrates that a contingent approach provides similar detection rates for trisomy 21 as universal cfDNA screening, by a reduction of 73% the number of cfDNA tests.

The objective of this study was to identify possible implications and risk factors in monochorionic (MC) twin pregnancies having a bipartite placenta. Between 2014 and 2019 data on such pregnancies was prospectively collected and retrospectively analyzed. Monochorionicity was confirmed either by the presence of a T-sign, one chorion and two separate amnion cavities, or by histological examination postnatally. Bipartite placenta was diagnosed when two placenta lobes were identified with no placental connection between them. Risks of bipartite placenta in MCDA twins were evaluated by background data, prenatal and postnatal outcome. Five twin pregnancies were included in the study. 60 % (n = 3) were complicated by twin-twin-transfusion syndrome (TTTS), 20 % by selective intrauterine growth restriction (sIUGR) (n = 1) and 20 % (n = 1) by severe fetal malformations. In every case an intervention was indicated, but in only 60% (n = 3) possible, due to poor surgical conditions. Overall fetal survival rate at birth was 90 %. Neonatal survival rate was 66.63%. Bipartite placenta is a very rare phenomenon in MCDA twin pregnancies. It seems to be associated with a higher rate of complications, such as TTTS and sIUGR and might induce surgical difficulties in prenatal interventions.

Objective: To assess the course and outcome of fetal aortic valvuloplasty (FAV) in fetuses with severe aortic stenosis (SAS) in a single center. Methods: All fetuses with a prenatal diagnosis of SAS with subsequent FAV were retrospectively collected in one tertiary center for fetal medicine over a period of 10 years. In the study, period fetuses with SAS were considered suitable for FAV in the presence of markedly elevated left ventricular pressures (maximum velocity of mitral regurgitation (MR Vmax) >250 cm/s and/or maximum velocity of aortic stenosis (AS Vmax) >250 cm/s), retrograde flow in the transverse aortic arch and a left ventricular length Z-score >−1. Results: In the study period 29 fetuses with AS were treated with 38 FAV. If reinterventions are included 82.7% of fetuses received a technically successful FAV. Procedure related death occurred in three (10.3%) cases, spontaneous fetal death in 2 (6.9%), and termination of pregnancy was performed in 3 cases (10.3%). Among the 21 live births (72.4%), four died in infancy. Among the remaining survivors, 8/17 (47.1%) had a biventricular outcome at the age of one year, 8/17 (47.1%) were univentricular and one infant (5.9%) is biventricular at the age of eight months. Fetuses with biventricular outcome had significantly greater left ventricular (LV) length Z-scores (p = 0.031), and lower tricuspid to mitral valve (TV/MV) ratios (p = 0.003). Conclusions: FAV has a high technical success rate and a low rate of procedure related mortality if performed in experienced hands. The success rate of biventricular circulation at the age of one year is moderate and seems to depend rather on the center’s experience and postnatal surgical strategies than solely on prenatal selection criteria. In the absence of randomized controlled trials, FAV remains an experimental intervention.

// David Stahl 1 , Martin Braun 1 , Andrew J. Gentles 2 , Philipp Lingohr 3 , Adeline Walter 4 , Glen Kristiansen 1 and Ines Gutgemann 1 1 Institute of Pathology, University Hospital Bonn, Bonn, Germany 2 Center for Cancer Systems Biology (CCSB), Stanford University, Stanford, California, USA 3 Department of General, Visceral, Thoracic and Vascular Surgery, University Hospital Bonn, Bonn, Germany 4 Department of Gynecology and Obstetrics, University Hospital Bonn, Bonn, Germany Correspondence to: Ines Gutgemann, email: Ines.guetgemann@ukbonn.de Keywords: BUB1, immunohistochemistry, biomarker, gastric adenocarcinoma, gastric cancer Received: March 17, 2017 Accepted: June 19, 2017 Published: July 18, 2017 ABSTRACT Gastric adenocarcinomas are associated with a poor prognosis due to the fact that the tumor has often metastasized by the time of diagnosis and prognostic markers are urgently needed to tailor treatment. We examined the expression of the mitotic spindle checkpoint protein BUB1 (budding uninhibited by benzimidazoles 1) and Ki-67 protein expression by immunohistochemistry in 218 patients with primary gastric adenocarcinomas. Tumors with low frequency of BUB1 expression were associated with larger tumor size (pT) (p < 0.001), higher incidence of lymph node metastases (pN) (p = 0.027), distant metastases (pM) (p = 0.006) and higher UICC stage (p < 0.001). Furthermore, BUB1 expression was inversely correlated with residual tumor stage (p = 0.038). Abundant BUB1 protein expression correlated with frequent Ki-67 protein expression (p < 0.001) and low BUB1 expression was associated with shorter survival (p < 0.001). Univariate and multivariate analyses confirmed BUB1 to be an independent prognostic marker in gastric cancer (p = 0.021).