Is micronucleus assay in oral exfoliated cells a suitable tool for biomonitoring children exposed to environmental pollutants? A systematic review

Environmental Science and Pollution Research - The aim of this review was to evaluate if micronucleus assay in oral exfoliated cells is a suitable tool for biomonitoring children exposed to...     

Current practice of first-trimester ultrasound screening for structural fetal anomalies in developed countries

Objectives

First-trimester ultrasound screening is increasingly performed to detect fetal anomalies early in pregnancy, aiming to enhance reproductive autonomy for future parents. This study aims to display the current practice of first-trimester ultrasound screening in developed countries.

Method

An online survey among 47 prenatal screening experts in developed countries.

Results

First-trimester structural anomaly screening is available in 30 of the 33 countries and is mostly offered to all women with generally high uptakes. National protocols are available in 23/30 (76.7%) countries, but the extent of anatomy assessment varies. Monitoring of scan quality occurs in 43.3% of the countries. 23/43 (53.5%) of the respondents considered the quality of first-trimester ultrasound screening unequal in different regions of their country.

Conclusions

First-trimester screening for structural fetal anomalies is widely offered in developed countries, but large differences are reported in availability and use of screening protocols, the extent of anatomy assessment, training and experience of sonographers and quality monitoring systems. Consequently, this results in an unequal offer to parents in developed countries, sometimes even within the same country. Furthermore, as offer and execution differ widely, this has to be taken into account when results of screening policies are scientifically published or compared.     

All-in-one whole exome sequencing strategy with simultaneous copy number variant,single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience

Objective

We performed a 1-year evaluation of a novel strategy of simultaneously analyzing single nucleotide variants (SNVs), copy number variants (CNVs) and copy-number-neutral Absence-of-Heterozygosity from Whole Exome Sequencing (WES) data for prenatal diagnosis of fetuses with ultrasound (US) anomalies and a non-causative QF-PCR result.

Methods

After invasive diagnostics, whole exome parent-offspring trio-sequencing with exome-wide CNV analysis was performed in pregnancies with fetal US anomalies and a non-causative QF-PCR result (WES-CNV). On request, additional SNV-analysis, restricted to (the) requested gene panel(s) only (with the option of whole exome SNV-analysis afterward) was performed simultaneously (WES-CNV/SNV) or as rapid SNV-re-analysis, following a normal CNV analysis.

Results

In total, 415 prenatal samples were included. Following a non-causative QF-PCR result, WES-CNV analysis was initially requested for 74.3% of the chorionic villus (CV) samples and 45% of the amniotic fluid (AF) samples. In case WES-CNV analysis did not reveal a causative aberration, SNV-re-analysis was requested in 41.7% of the CV samples and 17.5% of the AF samples. All initial analyses could be finished within 2 weeks after sampling. For SNV-re-analysis during pregnancy, turn-around-times (TATs) varied between one and 8 days.

Conclusion

We show a highly efficient all-in-one WES-based strategy, with short TATs, and the option of rapid SNV-re-analysis after a normal CNV result.     

In utero sonographic diagnosis of a communicating enteric duplication cyst in a giant omphalocele

Enteric duplications are rare lesions, and relatively few cases have been diagnosed prenatally. We present, to our knowledge, the first case of an associated communicating ileal duplication cyst in a huge omphalocele diagnosed prenatally. The prenatal ultrasound findings revealed four features of the cystic lesion including peristaltic movements of the cystic wall, communication between the cyst and normal bowel lumen, intra-cystic echogenic contents, and echogenic mesenteric tissue (fat) close to the cyst. These distinct characteristics helped us to make a firm in utero diagnosis. Copyright © 2001 John Wiley & Sons, Ltd.     

The influence of lipid and lifestyle factors upon correlations between highly prevalent organochlorine compounds in patients with exocrine pancreatic cancer

We aimed to analyse the influence of cholesterol and triglycerides, and of tobacco, coffee and alcohol consumption upon correlations between serum concentrations of organochlorine compounds (OCs) in patients with exocrine pancreatic cancer (EPC). Incident cases of EPC diagnosed in eastern Spain were prospectively identified (N=144). OCs were analysed by high-resolution gas chromatography with electron-capture detection. A strong correlation was observed between hexachlorobenzene (HCB) and beta-hexachlorocyclohexane (beta-HCH) (Spearman's rho=0.758). beta-HCH showed rho>0.4 with p,p'-DDT, p,p'-DDE, PCB138 and PCB153 (all p<0.001). Some correlations among compounds were slightly affected by tobacco, coffee or alcohol consumption. We observed a striking diversity of correlation patterns by strata of cholesterol and triglycerides. Most correlations were higher in the lowest category of triglycerides than in the lowest category of cholesterol. Most coefficients above 0.7 were seen in the lowest category of triglycerides (e.g., OC pairs p,p'-DDT and HCB, p,p'-DDT and beta-HCH, p,p'-DDE and beta-HCH, or HCB and beta-HCH). Correlations among OCs may be stronger when concentrations of triglycerides are low than when they are high. This is compatible with a dilution in the early phases of cancer and with a concentration effect as triglycerides become lower in the advanced phases of the disease.     

The anti-predator behaviour of wild white-handed gibbons (<Emphasis Type="Italic">Hylobates lar</Emphasis>)

Predation on gibbons is rarely observed in the wild. However, the gibbons' moderate body size and relatively small social groups suggest high vulnerability to predation. To assess the role of predation and to study their anti-predator behaviour, we presented visual predator models to nine groups of wild white-handed gibbons at Khao Yai National Park, Thailand. We measured subjects' immediate and delayed responses to four potential predators: tiger, clouded leopard, crested serpent eagle and reticulated python. Subjects reliably approached all four predators. In response to tigers and leopards, they additionally produced predator-specific songs and defecated copiously. In terms of delayed responses, distance between mated adults decreased, but only after exposure to the tiger model. In response to eagles and pythons, gibbons consistently vocalised, but this did not always include predator singing, and we found no long-term effects in overall activity or strata use. However, during 6 of 26 predator encounters, the gibbons produced songs with a structure that was intermediate between a duet song and a predator song more than 20 min after the predator encounter, indicating a long-term effect on their vocal behaviour. This study demonstrates that gibbons discriminate between different potential predators and respond to them with adaptive anti-predator behaviour, which include predator-specific vocal responses. We conclude that gibbons are not immune to predation and that terrestrial predators elicit consistent immediate and delayed anti-predation responses.     

Characterization of fine primary biogenic organic aerosol in an urban area in the northeastern United States

Scanning electron microscopy coupled to energy-dispersive x-ray spectroscopy (SEM/EDX) was used to quantify individual bioparticles in PM_2.5 samples collected during the Pittsburgh Air Quality Study. Microscopy-based estimates of primary biogenic organic aerosol (PBOA) mass were compared to carbohydrate mass associated with PM_2.5. Carbohydrates show substantial seasonal variations, with higher concentrations in the spring and the fall. During the summer, carbohydrates were about 30% of the estimated PBOA concentrations, but in the winter carbohydrate concentrations often greatly exceeded the PBOA mass estimate. Spores and insect detritus were the most abundant PBOA types in the summer samples, while winter samples were comprised predominantly of a mixture of microorganisms, insect and vegetative detritus. During the summer PBOA contributed on average 6.9 ± 5.4% by mass of the PM_2.5 versus 3.3 ± 1.4% of the PM_2.5 mass during the winter.