A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound

Objective

Conventional genetic tests (quantitative fluorescent-PCR [QF-PCR] and single nucleotide polymorphism-array) only diagnose ~40% of fetuses showing ultrasound abnormalities. Rapid exome sequencing (rES) may improve this diagnostic yield, but includes challenges such as uncertainties in fetal phenotyping, variant interpretation, incidental unsolicited findings, and rapid turnaround times. In this study, we implemented rES in prenatal care to increase diagnostic yield.

Methods

We prospectively studied 55 fetuses. Inclusion criteria were: (a) two or more independent major fetal anomalies, (b) hydrops fetalis or bilateral renal cysts alone, or (c) one major fetal anomaly and a first-degree relative with the same anomaly. In addition to conventional genetic tests, we performed trio rES analysis using a custom virtual gene panel of ~3850 Online Mendelian Inheritance in Man (OMIM) genes.

Results

We established a genetic rES-based diagnosis in 8 out of 23 fetuses (35%) without QF-PCR or array abnormalities. Diagnoses included MIRAGE (SAMD9), Zellweger (PEX1), Walker-Warburg (POMGNT1), Noonan (PTNP11), Kabuki (KMT2D), and CHARGE (CHD7) syndrome and two cases of Osteogenesis Imperfecta type 2 (COL1A1). In six cases, rES diagnosis aided perinatal management. The median turnaround time was 14 (range 8-20) days.

Conclusion

Implementing rES as a routine test in the prenatal setting is challenging but technically feasible, with a promising diagnostic yield and significant clinical relevance.     

Project XL: cheaper,cleaner, and smarter ways to protect the environment

Are you interested in making the job of complying with federal environmental requirements cheaper and smarter for your business? The U.S. Environmental Protection Agency is committed to helping business and other sectors make more sense of environmental requirements through a number of innovative programs, one of the most far‐reaching being Project XL. © 2000 John Wiley & Sons, Inc.     

Population differences in predation on Batesian mimics in allopatry with their model: selection against mimics is strongest when they are common

Batesian mimicry evolves when a palatable species, the “mimic,” resembles a dangerous species, the “model,” because both receive protection from predation. Yet, this protection should break down where the model is absent, because predators in such areas would not be under selection to avoid the model. Here, we test this prediction in a coral snake mimicry complex. We exposed plasticine replicas of milk snakes that closely mimic coral snakes to natural predators to determine if good mimetic milk snakes are preferentially attacked in allopatry with their model. Moreover, we evaluated whether attack rates on these replicas varied among three different allopatric regions that differed in the type of mimic found locally (i.e., good mimic, poor mimic, or no mimic). When all three regions were considered together, mimics were not preferentially attacked. When regions were analyzed separately, however, attacks on mimics were significantly greater than randomness only where good mimics were found. These variable levels of predation on good mimics might reflect frequency-dependent (i.e., apostatic) predation. In allopatric regions where good mimics are present, predators might have learned or evolved preferences for conspicuous, palatable prey that they encounter frequently. By contrast, in allopatric regions where good mimics are absent, predators might not have learned or evolved preferences for novel phenotypes. Thus, when predation is frequency-dependent, as long as good mimics are rare, they might not experience elevated levels of predation in allopatry with their model as predicted by the Batesian mimicry hypothesis.     

Solubility analysis and disposal options of combustion residues from plants grown on contaminated mining area

Biomass, as a renewable energy source, is an excellent alternative for the partial replacement of fossil fuels in thermal and electric energy production. A new fuel type as biomass for energy utilisation includes ligneous plants with considerable heavy metal content. The combustion process must be controlled during the firing of significant quantities of contaminated biomass grown on brownfield lands. By implementing these measures, air pollution and further soil contamination caused by the disposal of the solid burning residue, the ash, can be prevented. For the test samples from ligneous plants grown on heavy metal-contaminated fields, an ore mine (already closed for 25 years) was chosen. With our focus on the determination of the heavy metal content, we have examined the composition of the soil, the biomass and the combustion by-products (ash, fly ash). Our results confirm that ash resulting from the combustion must be treated as toxic waste and its deposition must take place on hazardous waste disposal sites. Biomass of these characteristics can be burnt in special combustion facility that was equipped with means for the disposal of solid burning residues as well as air pollutants.     

Evolution of male mating behavior: male spadefoot toads preferentially associate with conspecific males

The evolution of male breeding aggregations is difficult to explain because males may reduce their reproductive success by associating with their closest competitors. We examined aggregative behavior by male New Mexico spadefoot toads, Spea multiplicata, which form breeding choruses in rain-filled pools. We specifically asked whether males are attracted to conspecific calls and, if so, whether they preferentially associate with those male calls that are also attractive to females. Field observations revealed that males showed significant clustering with conspecifics within breeding ponds, whereas laboratory phonotaxis experiments revealed that males preferentially associated with conspecific male calls. Moreover, when males were presented with conspecific calls that differed in call rate, smaller males associated with the stimulus preferred by females (average call rate). Thus, males appear to evaluate the attractiveness of competitors using the same trait employed by females to assess potential mates, and males adjust their positions relative to competitors depending on their size. We discuss these results in the light of several current hypotheses on the adaptive significance of male breeding aggregations. Received: 20 December 1999 / Accepted: 18 March 2000