Multicenter clinical experience with non-invasive cell-free DNA screening for monosomy X and related X-chromosome variants

Objective

We aimed to investigate how the presence of fetal anomalies and different X chromosome variants influences Cell-free DNA (cfDNA) screening results for monosomy X.

Methods

From a multicenter retrospective survey on 673 pregnancies with prenatally suspected or confirmed Turner syndrome, we analyzed the subgroup for which prenatal cfDNA screening and karyotype results were available. A cfDNA screening result was defined as true positive (TP) when confirmatory testing showed 45,X or an X-chromosome variant.

Results

We had cfDNA results, karyotype, and phenotype data for 55 pregnancies. cfDNA results were high risk for monosomy X in 48/55, of which 23 were TP and 25 were false positive (FP). 32/48 high-risk cfDNA cases did not show fetal anomalies. Of these, 7 were TP. All were X-chromosome variants. All 16 fetuses with high-risk cfDNA result and ultrasound anomalies were TP. Of fetuses with abnormalities, those with 45,X more often had fetal hydrops/cystic hygroma, whereas those with “variant” karyotypes had different anomalies.

Conclusion

Both, 45,X or X-chromosome variants can be detected after a high-risk cfDNA result for monosomy X. When there are fetal anomalies, the result is more likely a TP. In the absence of fetal anomalies, it is most often an FP or X-chromosome variant.     

A pilot study on the transfer of 137Cs and 90Sr to horse milk and meat

The radiological assessment of the impact of nuclear weapon's testing on the Semipalatinsk Test Site (STS) on the local population requires comprehensive site-specific information on radionuclide behaviour in the environment. However, information on radionuclide behaviour in the conditions of the STS is rather sparse and, in particular, there are no data in the literature on parameters of radionuclide transfer from feed to horse products proofed to be important contributors to the internal dose to the local population. The transfer of 137Cs and 90Sr to horse milk and meat was studied under laboratory and field conditions: in controlled experiment with three lactating horses maintained in the Kazakh Agricultural Research Institute, and in field measurements of horse products taken from horses grazing at the Semipalatinsk Test Site. The equilibrium transfer factors from feed to horse milk and meat were estimated to be 0.012 dl(-1) and 0.035 dkg(-1) for (137)Cs and 0.0022 dl(-1) and 0.003 dkg(-1) for (90)Sr, respectively. The biological half-lives were approximated by a sum of two exponentials amounting to 3 (85%) and 15 (15%) days for 137Cs and 3.5 (70%) and 100 (30%) days for 90Sr. The highest 137Cs transfer has been found to be to spleen, followed by lung, heart, muscles, kidneys, intestine, and finally skin and bones. For90Sr, the maximum activity concentration was observed in bones; contamination of other tissues is rather uniform except for liver and intestine with a factor of about 2 higher than muscles.     

Messung und Quantifizierung von Mineralölkohlenwasserstoffen

Investigations concerning the measurement and evaluation of mineral oil hydrocarbons using Fourier-transform-infrared (FT/IR-)-spectroscopy,¹H-Nuclear magnetic resonance (¹H-NMR)-spectroscopy and Capillary gas chromatography — Flame ionisation detection (GC-FID) are presented. By means of various mineral oils and three certified reference materials (CRM) all tested methods were within a ±7%-range to the mineral oil nominal value and the 95% confidence intervals of the CRM’s, respectively. The GC-FID evaluation could be done without calibration using an relative response ratio of mineral oil to an internal standard (n-tetracontane). A¹H-NMR-method was developed for the quantitative determination of mineral oil hydrocarbons, successfully applied down to 0.2 mg/ml. Due to the determination limit achieved, the¹H-NMR-spectroscopy gain in importance as a reference method for the analysis of mineral oils.     

Mathematical Modeling and Numerical Algorithms for Simulation of Oil Pollution

This paper deals with the mathematical modeling and algorithms for the problem of oil pollution. For solving this task, we derive the adjoint problem for the advection–diffusion equation describing the propagation of oil slick after an accident, which we call the main problem. We prove a fundamental equality between the solutions of the main and the adjoint problems. Based on this equality, we propose a novel method for the identification of the pollution source location and the accident time of oil emission. This approach is illustrated on an example for an accident in the offshore of the central part of the Vietnamese coast. Numerical simulations demonstrate the effectiveness of the proposed method. Besides, the method is verified for 1D model of substance propagation.