How does cell-based non-invasive prenatal test (NIPT) perform against chorionic villus sampling and cell-free NIPT in detecting trisomies and copy number variations? A clinical study from Denmark

Objectives

We aimed to compare cell-based NIPT (cbNIPT) to chorionic villus sampling (CVS) and to examine the test characteristics of cbNIPT in the first clinical validation study of cbNIPT compared to cell-free NIPT (cfNIPT).

Material and Methods

Study 1: Women (N = 92) who accepted CVS were recruited for cbNIPT (53 normal and 39 abnormal). Samples were analyzed with chromosomal microarray (CMA). Study 2: Women (N = 282) who accepted cfNIPT were recruited for cbNIPT. cfNIPT was analyzed using sequencing and cbNIPT by CMA.

Results

Study 1: cbNIPT detected all aberrations (32/32) found in CVS: trisomies 13, 18 and 21 (23/23), pathogenic copy number variations (CNVs) (6/6) and sex chromosome aberrations (3/3). cbNIPT detected 3/8 cases of mosaicism in the placenta. Study 2: cbNIPT detected all trisomies found with cfNIPT (6/6) and had no false positive (0/246). One of the three CNVs called by cbNIPT was confirmed by CVS but was undetected by cfNIPT, two were false positives. cbNIPT detected mosaicism in five samples, of which two were not detected by cfNIPT. cbNIPT failed in 7.8% compared to 2.8% in cfNIPT.

Conclusion

Circulating trophoblasts in the maternal circulation provide the potential of screening for aneuploidies and pathogenic CNVs covering the entire fetal genome.     

Marine Organisms as Indicators of Heavy Metal Pollution-Experience from 16 Years of Monitoring at a Lead Zinc Mine in Greenland

In monitoring the impact of a lead-zinc mine in Greenland, species of fish, prawns, seaweed and mussels have been analysed for cadmium, copper, lead and zinc for several years. These metals have been released to the marine environment in significant amounts from the mining operation.     

Increased risk of abortion after genetic amniocentesis in twin pregnancies

Forty-seven twin pregnancies among 3676 patients who had a genetic amniocentesis between 1973 and 1979, are reported. The detection rate of twins at the time of amniocentesis was 62 per cent. Five (17 per cent) of the 29 women with detected twin pregnancy aborted spontaneously, these are compared with 1 (6 per cent) of 18 women with undetected twin pregnancies and with 3 (3 per cent) of 93 singleton pregnancies, selected as controls as they had amniocentesis performed immediately before and after each of the twin mothers. Two of 9 (22 per cent) twin pregnancies, who had at least two punctures in at least one sac aborted, while 3 of 20 twin pregnancies with one puncture in each sac aborted (15 per cent). One of 18 (6 per cent) twin pregnancies, where only one sac was punctured, because the twin pregnancies were undetected, aborted. Amniocentesis of both sacs in twin pregnancies seems associated with an increased risk of spontaneous abortion. The indications for amniocentesis in twin pregnancies should be critically evaluated.     

Marine Organisms as Indicators of Heavy Metal Pollution-Experience from 16 Years of Monitoring at a Lead Zinc Mine in Greenland

In monitoring the impact of a lead-zinc mine in Greenland, species of fish, prawns, seaweed and mussels have been analysed for cadmium, copper, lead and zinc for several years. These metals have been released to the marine environment in significant amounts from the mining operation.     

Organics in wheat and rye straw pulp bleaching and combined mill effluents (II) ecotoxicological screening

Potential environmental effects of the discharge of industrial wastewater from manufacturing of bleached straw pulp have been studied. Bleached neutral sulphite straw pulping results in discharges of both black cooking and spent bleaching liquors. Time proportional samples were taken from the combined bleaching effluent and the combined mill effluent, (i) Mutagenic activity of the two samples in an Ames’ test, and (ii) acute toxicity of the combined mill effluent sample towards the photosynthetic activity of natural marine phytoplankton from the receiving waters were determined. Also, acute toxicity was determined of the slowly biodegradable or persistent organics remaining after aerobic stabilization of the sample towards (ii) photosynthetic activity of natural phytoplankton, (iii) mussels (Mytilus edulis), (iv) eels (Anguilla anguilla) and, (v) crustacean (Nitocra spinipes); and furthermore, (vi) reproduction test of the crustacean and (vii) growth inhibition test of the marine diatom (Phaeodactylum tricornutum) were performed. Mutagenicity emission factors (MEF's) and toxicity emission factors (TEF's) were calculated to classify the effluents. Combined mill effluent sample showed a mutagenic activity per t₉₀ of one fourth the activity of a kraft pulp bleaching effluent, and the inhibition of the photosynthesis of natural phytoplankton was significant up to 2600 times dilution. After aerobic stabilization, inhibition was observed up to 400 times dilution. Other effects of the combined mill effluent sample were only significant below 40 times dilution. The bleaching effluent showed a mutagenic activity per t₉₀ comparable to kraft bleaching effluents. Other effects were only significant below 20 times dilution.     

Effect of technology development on potential environmental impacts from heavy metals in waste smartphones

Technology development has brought beneficial changes in the functions of smartphones but has the potential to impact the environment due to the high generation of waste smartphones. Thus, this study evaluates and compares environmental impact potentials from metals in waste smartphones to figure out the effect of smartphone model replacements on hazardous waste, resource depletion, and toxicity potentials. The total threshold limit concentration (TTLC) analysis is used to determine whether the waste smartphones would be classified as hazardous waste, and the life-cycle impact assessment methods are used to evaluate resource depletion, cancer, non-cancer, and ecotoxicity potentials. The TTLC results showed that the smartphone technology development did not reduce hazardous waste potentials. The life-cycle impact assessment results showed that the technology development overall reduced resource depletion potential but increased toxicity potential. In addition, priority metals contributing to the potentials were identified to effectively manage their environmental impacts. This study can provide fundamental information for smartphone manufacturers, waste smartphone recyclers and disposers, and e-waste policymakers to circulate resources and to prevent environmental pollutions from hazardous and toxic materials.