Publications by authors named "Tutschek B"

Objective: Uterine anomalies (UA) occur in up to 6.7% of women. Breech is eight times more likely to occur with UA which may not be diagnosed prior to pregnancy and may only be found in the third trimester with breech.

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POLA1 encodes a subunit of the DNA polymerase alpha, a key enzyme for the initiation of DNA synthesis. In males, hemizygous hypomorphic variants in POLA1 have been identified as the cause of X-linked pigmentary reticulate disorder (XLPDR) and a novel X-linked neurodevelopmental disorder termed Van Esch-O'Driscoll syndrome (VEODS), while female carriers have been reported to be healthy. Nullisomy for POLA1 was speculated to be lethal due to its crucial function, while the effect of loss of one allele in females remained unknown.

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Ultrasound has become an essential diagnostic tool in gynecology, and every practicing gynecologist must be able to differentiate normal from pathologic findings, such as benign or malignant pelvic masses, adnexal torsion, pelvic inflammation disease, endometriosis, ectopic pregnancies, and congenital uterine malformations at least on a basic level. A standardized approach to the correct settings of the ultrasound system, the indications for gynecologic ultrasound investigations, and the sonographic appearance of normal anatomy and common pathologic findings in the standard planes are important prerequisites for safe and confident clinical management of gynecologic patients. Based on current publications and different national and international guidelines, updated DEGUM, ÖGUM, and SGUM recommendations for the performance of basic gynecologic ultrasound examinations were established.

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This recommendation document follows the mission of the World Association of Perinatal Medicine in collaboration with the Perinatal Medicine Foundation. We aim to bring together groups and individuals throughout the world for standardization to implement the ultrasound evaluation in labor ward and improve the clinical management of labor. Ultrasound in labor can be performed using a transabdominal or a transperineal approach depending upon which parameters are being assessed.

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Gynecological sonography is the central and most frequently used technical examination method used by gynecologists. Its focus is on the clarification of masses of the uterus and the adnexa, fertility diagnosis, clarification of bleeding disorders and chronic and acute pelvic problems, pelvic floor and incontinence diagnosis as well as the differential diagnosis of disturbed early pregnancy. The indication for diagnostic and therapeutic interventions, preoperative planning and postoperative controls are largely based on the findings of gynecological sonography.

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Ogden syndrome is a rare lethal X-linked recessive disorder caused by a recurrent missense variant (Ser37Pro) in the NAA10 gene, encoding the catalytic subunit of the N-terminal acetyltransferase A complex (NatA). So far eight boys of two different families have been described in the literature, all presenting the distinctive and recognizable phenotype, which includes mostly postnatal growth retardation, global severe developmental delay, characteristic craniofacial features, and structural cardiac anomalies and/or arrhythmias. Here, we report the ninth case of Ogden syndrome with an independent recurrence of the Ser37Pro variant.

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Introduction: In cases of placenta accreta spectrum, a precise antenatal diagnosis of the suspected degree of invasion is essential for the planning of individual management strategies at delivery. The aim of this work was to evaluate the respective performances of ultrasonography and magnetic resonance imaging for the antenatal assessment of the severity of placenta accreta spectrum disorders included in the database. The secondary objective was to identify descriptors related to the severity of placenta accreta spectrum disorders.

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Background: Operative vaginal delivery and, in particular, rotational forceps delivery require extensive training, specific skills, and dexterity. Performed correctly, it can reduce the need for difficult late second-stage cesarean delivery and its associated complications. When rotation to occiput anterior position is achieved, pelvic trauma and anal sphincter injury commonly associated with direct delivery from occiput posterior positions may be avoided.

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The worldwide incidence of abnormally invasive placenta is rapidly rising, following the trend of increasing cesarean delivery. It is a heterogeneous condition and has a high maternal morbidity and mortality rate, presenting specific intrapartum challenges. Its rarity makes developing individual expertise difficult for the majority of clinicians.

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Objective: Virtual reality (VR) objects of fetal ultrasound volumes have been proposed for teaching and learning diagnostic ultrasound. The aim of this study was to determine if VR objects improve learning efficiency and retention of diagnostic ability in fetal ultrasound.

Methods: Medical students and junior doctors were taught normal and abnormal sonographic fetal brain anatomy using conventional means (video lectures and review articles; control group) or additionally with selected VR objects from a novel fetal brain atlas (Pocket Brain, http://pb.

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The purpose of these Guidelines is to review the published techniques of ultrasound in labor and their practical applications, to summarize the level of evidence regarding the use of ultrasound in labor and to provide guidance to practitioners on when ultrasound in labor is clinically indicated and how the sonographic findings may affect labor management. We do not imply or suggest that ultrasound in labor is a necessary standard of care.

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Aim: Postpartum haemorrhage (PPH) is one of the leading causes of maternal morbidity and mortality. Studies have reported an increase in incidence of postpartum haemorrhage in recent years. Our goal was to investigate changes in the incidence of postpartum haemorrhage (PPH) and its risk factors in Switzerland from 1993 to 2014.

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Introduction: The primary aim of this study was to ascertain the prevalence of the individual conditions and of associated anomalies in fetuses with the prenatal diagnosis of enlarged posterior fossa (PF) and to explore the diagnostic accuracy of ultrasound in these anomalies. The secondary aim was to evaluate the postnatal outcome of children affected by PF anomalies.

Material And Methods: All fetuses with enlarged PF detected by prenatal sonography at a referral center from 2001 to 2015 were analyzed retrospectively.

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