Assistierte Fertilisation

Ungewollte Kinderlosigkeit ist ein ernst zu nehmendes Problem. Für viele Paare stellt der Wunsch nach einem Kind einen zentralen Lebensinhalt dar. Gemäss der „World Health Organisation“ (WHO) liegt eine Sterilität vor, wenn trotz regelmässigem und ungeschütztem Geschlechtsverkehr nach 1 Jahr noch keine Schwangerschaft eingetreten ist. Die Prävalenz variiert je nach Land. Es wird geschätzt, dass in der westlichen Welt ca. jedes 7. Paar betroffen ist. Zahlreiche Gründe können für eine ungewollte Kinderlosigkeit verantwortlich sein. Vor Beginn einer Sterilitätstherapie sollten diese abgeklärt werden, um eine optimale Wahl der Sterilitätstherapie treffen zu können. Die assistiert-reproduktionsmedizinischen Techniken stellen wichtige Therapieoptionen mit guten Erfolgschancen dar. Mit dem Inkrafttreten des revidierten Fortpflanzungsmedizingesetztes der Schweiz ist es nun auch möglich, Verfahren, die früher nur im Ausland erfolgen konnten, im Inland durchzuführen. So kann mittlerweile Paaren mit schweren Erbleiden auch im eigenen Land eine Präimplantationsdiagnostik erfolgreich angeboten werden. = L’absence d’enfant involontaire est un problème qui doit être pris au sérieux. Avoir un enfant est un but de vie essentiel pour de nombreux couples. L’Organisation mondiale de la santé (OMS) définit la stérilité comme l’absence d’une grossesse malgré de réguliers rapports sexuels non protégés pendant une période d’au moins un an. La prévalence varie d’un pays à l’autre. On estime qu’environ un couple sur sept est affecté dans le monde occidental. L’absence d’enfant involontaire peut avoir de nombreuses causes. Avant de commencer un traitement de la stérilité, il faut examiner quelles sont les causes impliquées afin de pouvoir définir le traitement optimal de l’infertilité. Les techniques de procréation médicalement assistée sont des options thérapeutiques importantes qui offrent de bonnes chances de succès. L’entrée en vigueur en Suisse de la loi révisée sur la procréation médicalement assistée permet désormais d’appliquer en Suisse des procédés qui n’étaient auparavant possibles qu’à l’étranger. Ainsi, un diagnostic préimplantatoire peut à présent être proposé avec succès dans leur propre pays aux couples atteints d’anomalies génétiques sévères

Prenatal care in adult women exposed to childhood sexual abuse

Aims: Several case reports show a negative impact of childhood sexual abuse (CSA) on prenatal care. The study aimed to systematically investigate this association in a larger study group. Methods: CSA was investigated by face-to-face interviews and by a modified questionnaire developed by Wyatt. All study participants completed a self-administered questionnaire designed to investigate the consequences of CSA on prenatal care during adulthood. Data from 85 women after CSA were compared to those of 170 matched women without such experiences. Results: Women exposed to CSA had fewer than five prenatal consultations more often than unexposed women (26%/7%; P<0.0001). Of the 85 women with a positive history for CSA, 9.4% had been asked for such antecedents, 36.5% had intense memories on original abuse situations during pregnancy, 56.6% mentioned specific consequences of CSA on prenatal care and 61.2% were satisfied with obstetrical support. Exposed women (62.4%) felt significantly less prepared for labor than unexposed women (75.9%) (P<0.0001). Conclusions: CSA experiences are associated with impaired prenatal care. These results underscore the compelling need to improve prenatal care in women exposed to CSA through better education of obstetricians regarding the effects of CSA and in their ability to provide empathetic professional suppor

Испытание технологии выравнивания профиля приемистости с применением модифицированного состава на основе полиакрилонитрила на нефтяном месторождении «S» (Томская область)

В работе рассматривается технология выравнивания профиля приемистости с применением модифицированного состава на основе полиакрилонитрила на одном из месторождений Западной Сибири. Используемый реагент предназначен для применения в технологиях повышения нефтеотдачи пласта с целью выравнивания профиля приёмистости в нагнетательных скважинах и ограничение водопритоков в добывающих скважинах. В работе проведен анализ эффективности рассматриваемой технологии.The technology of equalization of the injectivity profile using a modified composition based on polyacrylonitrile at one of the fields in Western Siberia is considered. The reagent used is intended for use in enhanced oil recovery technologies in order to equalize the injectivity profile in injection wells and to limit water inflows in producing wells. The analysis of the efficiency of the technology in question is conducted

Cancer data quality and harmonization in Europe: the experience of the BENCHISTA Project – international benchmarking of childhood cancer survival by stage

IntroductionVariation in stage at diagnosis of childhood cancers (CC) may explain differences in survival rates observed across geographical regions. The BENCHISTA project aims to understand these differences and to encourage the application of the Toronto Staging Guidelines (TG) by Population-Based Cancer Registries (PBCRs) to the most common solid paediatric cancers.MethodsPBCRs within and outside Europe were invited to participate and identify all cases of Neuroblastoma, Wilms Tumour, Medulloblastoma, Ewing Sarcoma, Rhabdomyosarcoma and Osteosarcoma diagnosed in a consecutive three-year period (2014-2017) and apply TG at diagnosis. Other non-stage prognostic factors, treatment, progression/recurrence, and cause of death information were collected as optional variables. A minimum of three-year follow-up was required. To standardise TG application by PBCRs, on-line workshops led by six tumour-specific clinical experts were held. To understand the role of data availability and quality, a survey focused on data collection/sharing processes and a quality assurance exercise were generated. To support data harmonization and query resolution a dedicated email and a question-and-answers bank were created.Results67 PBCRs from 28 countries participated and provided a maximally de-personalized, patient-level dataset. For 26 PBCRs, data format and ethical approval obtained by the two sponsoring institutions (UCL and INT) was sufficient for data sharing. 41 participating PBCRs required a Data Transfer Agreement (DTA) to comply with data protection regulations. Due to heterogeneity found in legal aspects, 18 months were spent on finalizing the DTA. The data collection survey was answered by 68 respondents from 63 PBCRs; 44% of them confirmed the ability to re-consult a clinician in cases where stage ascertainment was difficult/uncertain. Of the total participating PBCRs, 75% completed the staging quality assurance exercise, with a median correct answer proportion of 92% [range: 70% (rhabdomyosarcoma) to 100% (Wilms tumour)].ConclusionDifferences in interpretation and processes required to harmonize general data protection regulations across countries were encountered causing delays in data transfer. Despite challenges, the BENCHISTA Project has established a large collaboration between PBCRs and clinicians to collect detailed and standardised TG at a population-level enhancing the understanding of the reasons for variation in overall survival rates for CC, stimulate research and improve national/regional child health plans

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Congenital heart defects (CHDs) have a neonatal incidence of 0.8-1% (refs. 1,2). Despite abundant examples of monogenic CHD in humans and mice, CHD has a low absolute sibling recurrence risk (∼2.7%), suggesting a considerable role for de novo mutations (DNMs) and/or incomplete penetrance. De novo protein-truncating variants (PTVs) have been shown to be enriched among the 10% of 'syndromic' patients with extra-cardiac manifestations. We exome sequenced 1,891 probands, including both syndromic CHD (S-CHD, n = 610) and nonsyndromic CHD (NS-CHD, n = 1,281). In S-CHD, we confirmed a significant enrichment of de novo PTVs but not inherited PTVs in known CHD-associated genes, consistent with recent findings. Conversely, in NS-CHD we observed significant enrichment of PTVs inherited from unaffected parents in CHD-associated genes. We identified three genome-wide significant S-CHD disorders caused by DNMs in CHD4, CDK13 and PRKD1. Our study finds evidence for distinct genetic architectures underlying the low sibling recurrence risk in S-CHD and NS-CHD

Ovarian hyperstimulation and oocyte harvesting prior to systemic chemotherapy-a possible pitfall in 18F-FDG PET/CT staging of oncologic patients

A 33-year-old woman with Hodgkin disease Ann Arbor stage IIA underwent baseline F-FDG PET/CT scanning. The scan showed gross multicystic enlargement of both ovaries and a nodule at the edge of the right ovary with intense FDG uptake (SUVmax = 14.8). Differential diagnosis would include ovarian lymphoma manifestation, endometrioma, and ovarian or pelvic neoplasia. However, chart analysis revealed previous superstimulation with gonadotropins and gonadotropin release hormone antagonist, and transvaginal oocyte retrieval the day before FDG PET/CT. This led to the diagnosis of ovarian hyperstimulation syndrome, with the FDG-avid focus representing a hemorrhagic follicle after transvaginal oocyte retrieval procedure

The relevance of age in female human reproduction – Current situation in Switzerland and pathophysiological background from a comparative perspective

During recent years women tend to postpone childbirth to ages when fertility declines. Consequently, an increasing number of women experiences reproductive difficulties and seeks help by assisted reproductive techniques (ART). To investigate the dynamics of age-related fertility in Switzerland we evaluated data from the nationwide FIVNAT-CH statistics on ART as well as from a subsample receiving ART at the Division of Reproductive Endocrinology, University Hospital Zurich. Since 2000 the average age of women receiving ART increased from 34.9 to 36.3 years in Switzerland and since 2006 numbers of annual ART cycles augmented steadily. The percentage of women ⩾40 increased from 17.2% in 2007 to 19.6% in 2011. In the Zurich cohort AMH, the number of oocytes retrieved, the number of fertilized oocytes with two pronuclei, the number of embryos with an adequate cell number, clinical pregnancy rates as well as life birth/ongoing pregnancy rates were lower in the age group ⩾40 years, especially when compared to 33 year-old women. In the nationwide sample pregnancy rates decreased from about 45% at the age of 30 to less than 3% at the age of 45; delivery rates declined from about 38% to nearly 0%. In the Zurich cohort percentages of clinical pregnancies declined from 46% in women ⩽34 years to 21% in women ⩾40 years. In the national sample as well as in the Zurich cohort the percentage of miscarriages increased dramatically from 15.4% and 22% in women ⩽34 years to 38.6% and 33% in women ⩾40 years, respectively. Even in a country with high health standards such as Switzerland fertility is declining with age and ART does not succeed to improve reduced fertility. Rodent and primate models enrich our knowledge on the pathophysiological mechanisms underlying reproductive senescence. As non-infertility specialist physicians as well as the general public are not sufficiently aware of the dramatic reduction of chances for life births in women ⩾40 years, medical counseling as well as schools and media should support the distribution of information future parents need for successful family planning

Protein Z in normal pregnancy

Changes in the coagulation and fibrinolytic systems during pregnancy lead to a higher risk of thromboembolism. These changes include the increase of many clotting factors, as well as a significant fall in activity of fibrinolytic proteins, such as protein C. Protein Z is a vitamin-K-dependent plasma glycoprotein and inhibits the activation of factor X by serving as a cofactor to a plasma proteinase inhibitor. Protein Z deficiency has recently been reported in women with unexplained early fetal losses, and antibodies to protein Z can contribute to adverse pregnancy outcomes. The aim of this study was to determine the range of protein Z in normal pregnancies at different gestational weeks in a cross-sectional and a longitudinal setting. In the longitudinal study we found a 20% increase (p=0.006) of protein Z from first trimester to delivery and a 30% decrease (p<0.0001) 6 to 12 weeks after delivery. In the cross-sectional study these findings were reproducible. In summary, our data show a progressive increase in protein Z levels with gestational age in normal pregnancies and a return to normal levels around 6 to 12 weeks postpartum. The normal increase of protein Z during pregnancy may balance the increase of clotting factors to protect pregnant women from thrombosis