Should we ‘open the kimono’ to release the results of rare autosomal aneuploidies following noninvasive prenatal whole genome sequencing?

The metaphor ‘open kimono’ has been applied in the business world to connote transparency via the release of all available data to an external party. Here, the author uses this term to discuss the relative advantages and disadvantages of reporting on the presence of rare autosomal aneuploidies detected by massively parallel sequencing of placental cell-free DNA in the plasma of pregnant women. Newly presented data sets from multiple laboratories suggest that autosomal aneuploidies such as trisomies 7, 15, 16, 22, and 8 are easily detectable and are potentially associated with fetal growth restriction, pregnancy loss, and maternal preeclampsia. Furthermore, they may explain false positive results for the common autosomal trisomies (13, 18, and 21) as well as test failures. Thus, release of this information may result in improved clinical utility. At the present time, however, professional societies in various parts of the world differ in their recommendations as to whether or not to release expanded autosomal aneuploidy results beyond the common trisomies. © 2016 John Wiley & Sons, Ltd.     

Fetal fraction and noninvasive prenatal testing: What clinicians need to know

The fetal fraction (FF) is a function of both biological factors and bioinformatics algorithms used to interpret DNA sequencing results. It is an essential quality control component of noninvasive prenatal testing (NIPT) results. Clinicians need to understand the biological influences on FF to be able to provide optimal post-test counseling and clinical management. There are many different technologies available for the measurement of FF. Clinicians do not need to know the details behind the bioinformatics algorithms of FF measurements, but they do need to appreciate the significant variations between the different sequencing technologies used by different laboratories. There is no universal FF threshold that is applicable across all platforms and there have not been any differences demonstrated in NIPT performance by sequencing platform or method of FF calculation. Importantly, while FF should be routinely measured, there is not yet a consensus as to whether it should be routinely reported to the clinician. The clinician should know what to expect from a standard test report and whether reasons for failed NIPT results are revealed. Emerging solutions to the challenges of samples with low FF should reduce rates of failed NIPT in the future. In the meantime, having a “plan B" prepared for those patients for whom NIPT is unsuccessful is essential in today's clinical practice.     

DAD IS OUT,POP IS IN1

ABSTRACT: Two major challenges face today's water professionals. The first is finding solutions to increasingly complicated water resources problems. The second challenge is nontechnical. It is effective interaction with the public recognizing both the public's increasingly elevated goals relative to water and the public's growing understanding of water science and technology. The traditional DAD approach, that is, decide-announce-defend, is no longer appropriate. The much more progressive, and inclusive POP approach, that is, public owns project, is more likely to be effective given the changing nature of the public's expectations and knowledge. A water resources planning or design effort that fails to include a public interaction program plans to fail. Described in this paper are three suggested objectives of the POP approach, namely demonstrating awareness, gathering supplemental data and information, and building a base of support. Having established specific objectives for a particular water resources project, appropriate public interaction programs and events must be selected, scheduled, and implemented. Many and varied programs and events are described in the paper.     

Maternal metabolomic profiling and congenital heart disease risk in offspring: A systematic review of observational studies

Aetiological understanding and screening methods for congenital heart disease (CHD) are limited. Maternal metabolomic assessment offers the potential to identify risk factors and biomarkers. We performed a systematic review (PROSPERO CRD42022308452) investigating the association between fetal/childhood CHD and endogenous maternal metabolites. Ovid-MEDLINE, Ovid-EMBASE and Cochrane Library were searched between inception and 06/09/2022. Case control studies included analysing maternal blood or urine metabolites in pregnancy or postpartum where there was foetal/childhood CHD. Risk of bias assessment utilised the Scottish Intercollegiate Guidelines Network methodology checklist and narrative synthesis was performed. A total of 134 records were screened with eight eligible studies (n = 3242 pregnancies, n = 842 CHD-affected offspring). Five studies performed metabolomic analysis in pregnancy. Metabolites distinguishing case and control groups spanned lipid, glucose and amino-acid pathways, with the development of sensitive risk prediction models. No single metabolite consistently distinguished cases and controls across studies. Three studies performed targeted analysis postnatally with altered lipid and amino acid metabolites and raised homocysteine and markers of oxidative stress identified in cases. Included studies reported small sample sizes, analysing different biosamples at variable time points using differing techniques. At present, there is not enough evidence to confidently associate maternal metabolomic profiles with offspring CHD risk. However, several identified pathways warrant further investigation.     

Presence of a parasitic nematode (Eustrongylidies sp.) in brown trout (Salmo trutta) from a heavy metal contaminated aquatic ecosystem

The Flat Nickel mine at Evje in southern Norway was mined intensively between 1914 and 1945 with little regard for any potential environmental effect. Much of the ore extracted was smelted at a site adjacent to the river Otra south of Evje. Recent studies have revealed heavy metal pollution in the land surrounding the smelter and in water draining from the mine, leading to concern for the aquatic ecosystem in the river Otra. Brown trout were sampled from an uncontaminated lake nine kilometres upstream from the smelter, from the base of the Oddebekken (a tributary draining the mine water into the Otra), from sites immediately upstream and down stream of the smelter and from a site four kilometres down stream from the smelter. Fish from sites adjacent to the smelter and the base of the Oddebekken were smaller than those from the lake and down stream site. Fish from sites adjacent to the smelter and the base of the Oddebekken were more likely to be infected with parasitic nematode Eustrongylidies. At the population but not the individual level the presence of encapsulated parasitic larvae correlated with the concentrations of two metals, Ni and Cu, in fish.