COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study: prospective cohort study and systematic review.

OBJECTIVE: To determine the incremental yield of antenatal exome sequencing (ES) over chromosomal microarray analysis (CMA) or conventional karyotyping in prenatally diagnosed congenital heart disease (CHD). METHODS: A prospective cohort study of 197 trios undergoing ES following CMA or karyotyping owing to CHD identified prenatally and a systematic review of the literature were performed. MEDLINE, EMBASE, CINAHL and ClinicalTrials.gov (January 2000 to October 2019) databases were searched electronically for studies reporting on the diagnostic yield of ES in prenatally diagnosed CHD. Selected studies included those with more than three cases, with initiation of testing based upon prenatal phenotype only and that included cases in which CMA or karyotyping was negative. The incremental diagnostic yield of ES was assessed in: (1) all cases of CHD; (2) isolated CHD; (3) CHD associated with extracardiac anomaly (ECA); and (4) CHD according to phenotypic subgroup. RESULTS: In our cohort, ES had an additional diagnostic yield in all CHD, isolated CHD and CHD associated with ECA of 12.7% (25/197), 11.5% (14/122) and 14.7% (11/75), respectively (P = 0.81). The corresponding pooled incremental yields from 18 studies (encompassing 636 CHD cases) included in the systematic review were 21% (95% CI, 15-27%), 11% (95% CI, 7-15%) and 37% (95% CI, 18-56%), respectively. The results did not differ significantly when subanalysis was limited to studies including more than 20 cases, except for CHD associated with ECA, in which the incremental yield was greater (49% (95% CI, 17-80%)). In cases of CHD associated with ECA in the primary analysis, the most common extracardiac anomalies associated with a pathogenic variant were those affecting the genitourinary system (23/52 (44.2%)). The greatest incremental yield was in cardiac shunt lesions (41% (95% CI, 19-63%)), followed by right-sided lesions (26% (95% CI, 9-43%)). In the majority (68/96 (70.8%)) of instances, pathogenic variants occurred de novo and in autosomal dominant (monoallelic) disease genes. The most common (19/96 (19.8%)) monogenic syndrome identified was Kabuki syndrome. CONCLUSIONS: There is an apparent incremental yield of prenatal ES in CHD. While the greatest yield is in CHD associated with ECA, consideration could also be given to performing ES in the presence of an isolated cardiac abnormality. A policy of routine application of ES would require the adoption of robust bioinformatic, clinical and ethical pathways. Copyright © 2020 ISUOG. Published by John Wiley & Sons Ltd

Combating Acid Violence in Bangladesh, India and Cambodia

This Report is the first comprehensive, comparative study of acid violence that examines the underlying causes, its consequences, and the multiple barriers to justice for its victims. Acid attacks, like other forms of violence against women, are not random or natural phenomena. Rather, they are social phenomena deeply embedded in a gender order that has historically privileged patriarchal control over women and justified the use of violence to “keep women in their places.” Through an in-depth study of three countries, the authors of the Report argue that the due diligence standard can be a powerful tool for state and non-state actors to prevent and adequately respond to acid violence with the aim of combating it. In this respect, they identify key ways in which acid violence can be addressed by governments and corporations

Active Packaging Technologies with an Emphasis on Antimicrobial Packaging and its Applications

In response to the dynamic changes in current consumer demand and market trends, the area of Active Packaging (AP) is becoming increasingly significant. Principal AP systems include those that involve oxygen scavenging, moisture absorption and control, carbon dioxide and ethanol generation, and antimicrobial (AM) migrating and nonmigrating systems. Of these active packaging systems, the AM version is of great importance. This article reviews: (1) the different categories of AP concepts with particular regard to the activity of AM packaging and its effects on food products, (2) the development of AM and AP materials, and (3) the current and future applications of AM packaging