Recommended pre-test counseling points for noninvasive prenatal testing using cell-free DNA: a 2015 perspective

Noninvasive prenatal testing (NIPT) using cell-free DNA is being offered to an increasing number of women. Comprehensive pre-test counseling is complicated by emerging information about the benefits and limitations of testing, as well as the potential to detect incidental findings. Genetic counselors are trained to facilitate informed decision-making; however, not all centers have access to these professionals. To aid in the informed consent process, we have summarized key points to be included in discussions with patients who are considering NIPT. © 2015 John Wiley & Sons, Ltd.     

Abundance,population structure and claw morphology of the semi-terrestrial crab <Emphasis Type="Italic">Pachygrapsus marmoratus</Emphasis> (Fabricius, 1787) on shores of differing wave exposure

Wave action is known to influence the abundance and distribution of intertidal organisms. Wave action will also determine the duration and suitability of various foraging windows (high-tide and low-tide, day and night) for predation and can also affect predator behaviour, both directly by impeding prey handling and indirectly by influencing prey abundance. It remains uncertain whether semi-terrestrial mobile predators such as crabs which can access intertidal prey during emersion when the effects of wave action are minimal, are influenced by exposure. Here, we assessed the effect of wave action on the abundance and population structure (size and gender) of the semi-terrestrial intertidal crab Pachygrapsus marmoratus on rocky shores in Portugal. The activity of P. marmoratus with the tidal cycle on sheltered and exposed shores was established using baited pots at high-tide to examine whether there was activity during intertidal immersion and by low-tide searches. Because prey abundance varies along a wave exposure gradient on most Portuguese shores and because morphology of crab chelipeds are known to be related to diet composition, we further tested the hypothesis that predator stomach contents reflected differences in prey abundance along the horizontal gradient in wave exposure and that this would be correlated with the crab cheliped morphology. Thus, we examined phenotypic variation in P. marmoratus chelipeds across shores of differing exposure to wave action. P. marmoratus was only active during low-tide. Patterns of abundance and population structure of crabs did not vary with exposure to wave action. Stomach contents, however, varied significantly between shores of differing exposure with a higher consumption of hard-shelled prey (mussels) on exposed locations, where this type of prey is more abundant, and a higher consumption of barnacles on sheltered shores. Multivariate geometric analysis of crab claws showed that claws were significantly larger on exposed shores. There was a significant correlation between animals with larger claws and the abundance of mussels in their stomach. Variation in cheliped size may have resulted from differing food availability on sheltered and exposed shores.     

Land Consumption by Urban Sprawl—A New Approach to Deduce Urban Development Scenarios from Actors’ Preferences

A new modelling approach to urban sprawl dynamics is introduced which allows representing qualitative knowledge on relations between moving actor populations and properties of locations. The results of this Qualitative Attractiveness Migration (QuAM) Model are scenario-like sets of possible future developments of the urban system, much in contrast to quantitative forecasts gained by traditional modelling approaches. QuAM models allow for the interaction between internal dynamics and external influences. The application of the new approach is exemplified by the case of urban sprawl in Leipzig since 1990. It was possible to reproduce the observed qualitative development and to calculate future scenarios. The scenario runs project a new wave of middle class driven residential sprawl and suggest implications for sprawl reducing policy interventions.     

Exomphalos without other prenatally detected anomalies: Perinatal outcomes from 22 years of population-based data

Objective

To ascertain the perinatal outcomes for an apparently isolated exomphalos detected by prenatal ultrasound.

Method

Our dataset captures cases from 614 321 births in the Wessex region of England and the Channel Isles on all cases of pre- or postnatally diagnosed exomphalos from 1994 to 2015. Ascertainment was >95%.

Results

Three hundred and thirty five cases were reported to the register: 28 (8%) were not detected prenatally, 18 (6%) had already died in utero, 169 (55%) cases were found to have additional anomalies on first tertiary ultrasound scan and one case was lost to follow-up. Therefore 119 (39%) cases had an apparently isolated exomphalos. Of the 119 cases with only an exomphalos detected on first tertiary ultrasound scan, 25 (21%) had a chromosome abnormality. Of those with a normal or untested karyotype, 61% were confirmed to be an isolated anomaly after birth, 13% had an additional heart abnormality, 9% had Beckwith-Wiedemann syndrome and 11% had additional problems diagnosed postnatally.

Conclusion

Our large population-based dataset with an average of 1 year's postnatal follow-up suggests that more than one-third of apparently isolated prenatal cases of exomphalos will have an additional finding detected after birth. These data should help assist clinicians in their prenatal counseling.

     

Statewide Survey of Hormones and Antibiotics in Surface Waters of Delaware

Water‐quality surveys have confirmed the presence of hormones and antibiotics in surface waters of the United States, which may be of concern to aquatic life. We investigated the concentrations of hormones and antibiotics in surface waters of the state of Delaware to determine – how they compared against environmental thresholds, how they varied across the state, and if they were correlated with land use type. Fifty surface water locations were sampled during early spring and late summer. Water samples were initially screened with ELISA followed by analysis with LC/MS/MS. The measured ranges of hormone concentrations were: 0‐3.71 ng/l for estrone, 0‐4.65 ng/l for estrone‐3‐sulfate, and 0‐6.27 ng/l for 17β‐estradiol. The measured ranges of antibiotics were: 0‐3.30 ng/l for sulfamerazine, 0‐10.74 ng/l for sulfamethoxazole, and 0‐2.29 ng/l for tetracycline. The predicted no‐effect concentration (PNEC) for estrone was exceeded for three samples and the PNEC for 17β‐estradiol was exceeded for 11 samples. In general, concentrations and detection frequencies were lower in the summer than the spring. The highest concentrations of hormones and antibiotics were spatially distributed in agricultural and urban areas; however, the correlations between land use type and the concentrations were weak. This study was the first statewide survey of hormones and antibiotics for Delaware and provided important baseline data on these emerging contaminants.