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

Police ethnography: a discussion of the unique opportunities and challenges of ‘doing ethnography’.

The popularity of police ethnography as a way of observing the social world waxed and waned following the halcyon period of the 1970s to the extent that Peter Manning, perhaps one of the most prominent ethnographers in police studies, predicted a swift and final ‘ethnographic fade’ (2014: 36). However, that ‘fade’ has flickered back to life and police ethnography is enjoying an expansion and revival. It is providing new opportunities for scholars to re-evaluate old ideas and past conclusions and to examine the relationships between police and those who encounter them in a different context. In this session, contributors to the recently published International Handbook of Police Ethnography discuss the fundamental premises of ethnography and explore the everyday realities of policework. Additionally, the session aims to explore the ethical dimensions of ‘doing ethnography’ in the policing world and the dilemmas and challenges of accessing and negotiating the policing environment

Beyond Reintegration: War Veteranship in Mozambique and El Salvador

This article proposes the concept of ‘war veteranship’ to better understand war veterans’ positioning in and engagement with post‐war societies and state‐building processes. The study is based on ethnographic research with former insurgent movements, specifically the Mozambican National Resistance (RENAMO) in Mozambique and the Farabundo Martí Front for National Liberation (FMLN) in El Salvador. The concept of war veteranship allows for the exploration of trajectories of former combatants not necessarily, and certainly not exclusively, in terms of reintegration, but rather in relation to the manifold ways in which the status and connections associated with armed group participation may hold currency in the veterans’ lives, and particularly in relation to political processes. The article argues that war veteranship is best understood as a distinct type of post‐war citizenship. Integral to the political accommodations that shape post‐war societies, war veteranship involves the construction, negotiation and contestation of the societal status of different categories of war veterans. Drawing on the analyses of political struggles of war veterans in RENAMO and FMLN over two decades, this study's findings underscore the longue‐durée socio‐political relevance of war veteranship, extending above and beyond reintegration efforts