Prenatal ultrasound finding of atypical genitalia: Counseling,genetic testing and outcomes

Objective

To report uptake of genetic counseling (GC) and prenatal genetic testing after the finding of atypical genitalia on prenatal ultrasound (US) and the clinical and genetic findings of these pregnancies.

Methods

A retrospective cohort study (2017–2019) of atypical fetal genitalia in a large expert center for disorders/differences of sex development. We describe counseling aspects, invasive prenatal testing, genetic and clinical outcome of fetuses apparently without [group 1, n = 22 (38%)] or with [group 2, n = 36 (62%)] additional anomalies on US.

Results

In group 1, 86% of parents opted for GC versus 72% in group 2, and respectively 58% and 15% of these parents refrained from invasive testing. Atypical genitalia were postnatally confirmed in 91% (group 1) and 64% (group 2), indicating a high rate of false positive US diagnosis of ambiguous genitalia. Four genetic diagnoses were established in group 1 (18%) and 10 in group 2 (28%). The total genetic diagnostic yield was 24%. No terminations of pregnancy occurred in group 1.

Conclusions

For optimal care, referral for an expert fetal US scan, GC and invasive diagnostics including broad testing should be offered after prenatal detection of isolated atypical genitalia.     

Health impact assessment of air pollution in an area of the largest coal mine in Brazil

Environmental Science and Pollution Research - Coal exploration and burning activities are among the activities with the greatest potential to cause atmospheric pollution due to the combustion...     

International perspectives on the implementation of reproductive carrier screening

Reproductive carrier screening started in some countries in the 1970s for hemoglobinopathies and Tay-Sachs disease. Cystic fibrosis carrier screening became possible in the late 1980s and with technical advances, screening of an ever increasing number of genes has become possible. The goal of carrier screening is to inform people about their risk of having children with autosomal recessive and X-linked recessive disorders, to allow for informed decision making about reproductive options. The consequence may be a decrease in the birth prevalence of these conditions, which has occurred in several countries for some conditions. Different programs target different groups (high school, premarital, couples before conception, couples attending fertility clinics, and pregnant women) as does the governance structure (public health initiative and user pays). Ancestry-based offers of screening are being replaced by expanded carrier screening panels with multiple genes that is independent of ancestry. This review describes screening in Australia, Cyprus, Israel, Italy, Malaysia, the Netherlands, Saudi Arabia, the United Kingdom, and the United States. It provides an insight into the enormous variability in how reproductive carrier screening is offered across the globe. This largely relates to geographical variation in carrier frequencies of genetic conditions and local health care, financial, cultural, and religious factors.     

Formation, characterization and release of non-extractable residues of [14C] -labeled organic xenobiotics in soils

The amount of non-extractable residues (NER) of organic xenobiotics in the soil can considerably exceed the amount of extractable residues which are accessible to normal residue analysis. The NER therefore present a burden to the soil, the toxicological and ecotoxicological potential of which is largely unknown. For the characterization of bound residues and their binding type, special solubilization methods such as supercritical fluid extraction are applied and experiments with radiolabeled model polymers are performed. Mineralization experiments with [¹⁴C] labeled xenobiotics in natural soil show that a total degradation is still also possible in the environment when in a bound form. Ecotoxicological effects of non-extractable residues may be recorded when their concentration is high, when the parent compound exhibits a high ecotoxicity and the applied detection method is sufficiently sensitive.     

Effectiveness of waste prevention program in primary students’ schools

Environmental Science and Pollution Research - Even though reducing waste is at the top of the waste hierarchy, no real decoupling between waste generation and consumption has been demonstrated....     

The synthetic pyrethroid isomers I. Preparation

Abstract

Enantiomers and racemic mixtures of selected benzilic esters using resolved and raceme permethrinic or chrysanthemic acids of high purity were synthesised via improved methods based on conventional steps. Nine basic structures of selected derivatives having hydrogen, bromo or phenoxy group at meta position were prepared including the well known insecticides of phenothrin, permethrin and cypermethrin. The optical purity of these compounds were determined via an NMR method applying chiral shift reagents. The configuration of the isomers of new a‐cyano‐benzyl esters were assigned via a rule realized by comparing the characteristic 1H NMR shifts of the dimethyl groups attached to the cyclopropane ring.     

Levels of dioxins, furans and PCBs in human serum and milk of people living in Greece

In an attempt to evaluate the background levels of polychlorinated dibenzo-p-dioxins (PCDDs), polychlorinated dibenzofurans (PCDFs), non-ortho, mono-ortho and indicator polychlorinated biphenyls (PCBs) in people living in an urban (Athens) and a rural (Kozani) area of Greece, blood serum and mother milk samples were analyzed. Analytical results are reported in this study. Statistically significantly differences were observed between regions, sexes and ages. Contamination levels in blood and human milk from Greece reported here are low compared to the previously reported dioxin data from other European countries and give no indication of particular health risk.     

Building resilience into emergency management

Emergency management faces a changed reality in terms of possibilities and threats with use of new technology. Due to the ongoing changes in the operation of oil and gas production, different constellations of actors in a distributed system are built. This introduces opportunities for planning and operation. At the same time as new technology offers opportunities, the technology-enabled distributed network of actors generate challenges for emergency handling. The purpose of the study presented has been to look for possibilities for making emergency management more resilient by becoming a part of continuous risk and hazard management. The suggested three main elements that are important to consider in the development of future emergency management are (1) proactive emergency management through early risk anticipation; and emergency management’s adaptation to new and future work practices such as (2) distributed actors and (3) new technology. Based on these results we suggest broadening the scope of emergency management to systematically include monitoring, anticipation, responding and learning.