DEGUM Recommendations on Diagnostic Puncture in Prenatal Medicine. / Empfehlungen der DEGUM zu diagnostischen Punktionen in der Pränatalmedizin.

Diagnostic puncture (amniocentesis, chorionic villus sampling, and fetal blood sampling) is an essential part of prenatal diagnostics and the only established and sufficiently scientifically evaluated possibility of diagnosing genetic diseases from pregnancy-specific cells. The number of diagnostic punctures in Germany, as in other countries, has fallen significantly. This is largely due to the introduction of first-trimester screening with further detailed ultrasound examination of the fetus and the analysis of cf-DNA (cell-free DNA) from maternal blood (noninvasive prenatal test - NIPT). On the other hand, knowledge about the incidence and appearance of genetic diseases has increased. The development of modern molecular genetic techniques (microarray and exome analysis) makes a differentiated investigation of these diseases increasingly possible. The requirements for education and counseling regarding these complex correlations have thus increased. The studies performed in recent years make it clear that diagnostic puncture performed in expert centers is associated with a low risk of complications. In particular, the procedure-related miscarriage risk hardly differs from the background risk for spontaneous abortion. In 2013, the Section of Gynecology and Obstetrics of the German Society for Ultrasound in Medicine (DEGUM) published recommendations on diagnostic puncture in prenatal medicine 1. The developments described above and new findings in recent years make it necessary to revise and reformulate these recommendations. The aim of this review is to compile important and current facts regarding prenatal medical puncture (including technique, complications, genetic examinations). It is intended to provide basic, comprehensive, and up-to-date information on diagnostic puncture in prenatal medicine. It replaces the publication from 2013 1.

Mid- to long-term cardiac magnetic resonance findings in elite athletes recovered from COVID-19: results from an ongoing observational COVID-19 study at a German Olympic medical centre.

INTRODUCTION: The cardiac magnetic resonance (CMR) data on mid- to long-term myocardial damage due to COVID-19 infections in elite athletes are scarce. Therefore, this study investigated the mid -to long-term consequences of myocardial involvement after a COVID-19 infection in elite athletes. MATERIALS AND METHODS: This study included 27 athletes at the German Olympic Centre North Rhine-Westphalia (NRW)/Rhineland with a confirmed previous COVID-19 infection between January 2020 and October 2021. The athletes were part of an ongoing observational COVID-19 study at the Institute of Cardiology and Sports Medicine Cologne at the German Sport University (DSHS).Nine healthy non-athletes with no prior COVID-19 illness served as controls. CMR was performed within a mean of 182 days (standard deviation [SD] 99) of the initial positive test result. RESULTS: CMR did not reveal any signs of acute myocarditis (according to the current Lake Louise criteria) or myocardial damage in any of the 26 elite athletes with previous COVID-19 infection. Of these athletes, 92% experienced a symptomatic course, and 54% reported symptoms lasting for more than 4 weeks. One male athlete was excluded from the analysis because CMR revealed an arrhythmogenic right ventricular cardiomyopathy (ARVC). Athletes had significantly enlarged left and right ventricle volumes and increased left ventricular myocardial mass in comparison to the healthy control group (LVEDVi 103.4 vs 91.1 ml/m2, p = 0.031; RVEDVi 104.1 vs 86.6 ml/m2, p = 0.007; LVMi 59.0 vs 46.2 g/m2, p = 0.002). Only two cases of elevated high-sensitivity-Troponin were documented; in one, the participant had previously engaged in high-intensity training, and in the other, CMR revealed a diagnosis of an arrhythmogenic cardiomyopathy. CONCLUSION: Our findings suggest that the risk for mid- to long-term myocardial damage is very low to negligible in elite athletes. Our results do not allow conclusions to be drawn regarding myocardial injury in the acute phase of infection nor about possible long-term myocardial effects in the general population.

Updated DEGUM Quality Requirements for the Basic Prenatal Screening Ultrasound Examination (DEGUM Level I) between 18 + 0 and 21 + 6 weeks of gestation. / Aktualisierte Qualitätsanforderungen an die Ultraschall- Screeninguntersuchung in der pränatalen Basisdiagnostik (=DEGUM-Stufe I) im Zeitraum 18 + 0 bis 21 + 6 Schwangerschaftswochen.

A precondition for the early detection of fetal abnormalities is the high quality of prenatal basic ultrasound (screening examination). The objective of ultrasound screening is the recognition of abnormal fetal growth and fetal anatomical anomalies. The prenatal detection of fetal abnormalities enables detailed prenatal counselling of parents, improved care at birth and potentially a reduction in morbidity and mortality. In the guidelines for maternity care in Germany ("Mutterschaftsrichtlinien"), the performance of basic ultrasound in pregnancy is not clearly defined. The required image documentation includes a few biometric measurements only. Therefore, adherence to a standard technique and the possibility of audit are limited, thus not necessarily resulting in high screening quality. In this update of the DEGUM quality requirements for level I screening ultrasound examination between 18 + 0 and 21 + 6 weeks of gestation, the required parameters, standard planes and required documentation are described in detail. The greater experience of gynecologists in the field of sonographic screening examinations and the use of a modern ultrasound technique allow improvement of the screening quality. This will improve the standard of basic ultrasound screening. Due to the enhanced standard of the DEGUM I examination, more pregnant women may benefit from a detailed ultrasound examination and specialized therapy in DEGUM level II and III centers. The required fetal structures are described in detail. This update of the requirements for level I DEGUM basic ultrasound examination between 18 + 0 and 21 + 6 weeks of gestation goes far beyond the guidelines for maternity care in Germany (the "Mutterschaftsrichtlinien") thereby elevating standards.

DEGUM, ÖGUM, SGUM and FMF Germany Recommendations for the Implementation of First-Trimester Screening, Detailed Ultrasound, Cell-Free DNA Screening and Diagnostic Procedures. / Empfehlungen der DEGUM, der ÖGUM, der SGUM und der FMF Deutschland zum Einsatz von Ersttrimester-Screening, früher Fehlbildungsdiagnostik, Screening an zellfreier DNA (NIPT) und diagnostischen Punktionen.

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.

Fetal Skeletal Disorders.

Skeletal disorders of the fetus are quite common. The incidence is about 5:1000 pregnancies. The disorders affect the extremities or parts of them (dysmelia), the whole skeleton (skeletal dysplasia), the skull (craniosynostosis) and the spine (dysostosis, caudal regression). About half of these diseases are complex. In the majority of cases the complex disorders are caused by single gene mutations or numeric or structural chromosomal aberrations. We explain the classification and diagnostic criteria for prenatal expert and screening ultrasound based on frequent disorders. The main diagnostic challenge concerning malformations of the limbs and craniosynostosis is to find out if they are isolated or symptoms of certain syndromes. In skeletal dysplasia it is clinically important to differentiate lethal entities from non-lethal.

So what really is user experience? An experimental study of user needs and emotional responses as underlying constructs.

This driving simulator study extended knowledge on user experience using a strategy to mitigate distraction resulting from the use of in-vehicle information systems (IVISs). It examined the impact of system restrictions on users' needs, emotions and consequences of users' experience in terms of psychological reactance. In a repeated measures design, we asked 53 participants to perform secondary tasks with an IVIS while driving. Three versions of the system varied with respect to the number of operable functionalities. The more functionalities that were disabled while driving, the more negatively users rated the systems. Multilevel regression analyses of at least n = 155 data points revealed that drivers' need fulfilment predicted their emotions. Reactance depended on users' need fulfilment and emotions. Experienced autonomy mediated the relation between functional limitations and reactance. When developing interactive systems, one should focus on needs and be aware of potential unwanted consequences such as psychological reactance. Practitioner Summary: This driving simulator study highlights the importance of considering need fulfilment and users' emotions when developing an interactive system that provides high user experience. System restrictions could have negative consequences as users might show psychological reactance.

Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele.

OBJECTIVE: Fetal pathology aims to recognize syndromal patterns of anomalies for goal-directed mutation analyses, genetic counseling, and early prenatal diagnosis in consecutive pregnancies. Here, we report on five fetuses with Peters' plus syndrome (PPS) from two distinct families aborted after prenatal ultrasound diagnosis of hydrocephaly. METHOD: We performed fetal autopsies and molecular analyses. RESULTS: Among 44 fetuses with prenatally diagnosed hydrocephaly, four fetuses of 16 to 21 gestational weeks presented with additional cleft lip/palate and/or agenesis of the corpus callosum. Other features were growth retardation, hypertelorism, anomalies of the eyes, in part consistent with Peters' anterior chamber anomalies, mild brachymelia, brachydactyly, and also internal anomalies. Suspected PPS was confirmed by detection of B3GALTL mutation in these four fetuses and in one additional sib fetus, revealing homozygosity for the common c.660 + 1G > A donor splice site mutation in intron 8. CONCLUSIONS: Autosomal-recessive PPS has not yet been diagnosed prenatally. We want to alert ultrasonographers to the diagnosis of this disorder in growth-retarded fetuses with (recurrent) hydrocephaly, agenesis of the corpus callosum, and cleft lip/palate and stress the more severe fetal manifestation, describing a first such case with additional Dandy-Walker cyst and occult meningoencephalocele.

Position of the conus medullaris in fetuses with skeletal dysplasia.

OBJECTIVES: To examine whether reduced conus distance (CD) measurement may be a marker for impaired growth of the fetal trunk in fetuses with certain types of skeletal dysplasia. METHODS: Two hundred fifty-four normal cases and 24 pregnancies with skeletal dysplasia were included. The fetuses with skeletal dysplasia were subdivided into two groups based on the specific diagnosis: skeletal dysplasias with a short trunk and skeletal dysplasias with a normal size trunk. Linear regression analysis was used to examine the relationship of the CD measurement with the biparietal diameter. CD measurements in the two groups of fetuses with skeletal dysplasia were compared using z-scores. RESULTS: In fetuses with skeletal dysplasia and shortened trunk, the CD measurement was significantly smaller than in the normal population (mean z-score -3.7, p < 0.0001). CD measurements in fetuses with skeletal dysplasia but a normal trunk size were similar to the normal population (mean z-score -0.1, p = 0.997). CONCLUSIONS: Short CD is associated with certain types of skeletal dysplasia. As such, measuring the CD may be helpful in diagnosing these conditions.

[Exercise in arterial hypertension]. / Körperliche Aktivität bei arterieller Hypertonie.

Regular endurance training has established itself as a major therapeutic principle in the specter of nonpharmacological measures in arterial hypertension. An initial medical check as well as an adequate technique, dosage and intensity of the prescribed exercise training are mandatory. With respect to the concomitant pharmacological treatment, it should be considered that the beneficial effects of lifestyle modification will not be counteracted by the chosen antihypertensive drug but, ideally, synergistically supported. Based on the individual clinical situation, principally all antihypertensive drugs recommended by the current European guidelines, may be prescribed as mono- or combination therapy.beta-receptor blockers are especially capable of controlling excessive exercise-induced blood pressure increase; however, they have metabolic and exercise physiological limitations. The neutrality concerning metabolic and exercise physiological parameters as well as the positive profile of side effects favor ACE inhibitors, long-acting calcium channel blockers and especially AT(1) antagonists in physically active hypertensive patients with concomitant metabolic syndrome.