Perinatal outcomes and genomic characteristics of fetal copy number variants: An individual record linkage study of 713 pregnancies.

Objective: To determine the perinatal outcomes of fetuses diagnosed with a pathogenic copy number variant (CNV) or variant of uncertain significance (VUS); and to characterize these variants in terms of testing indication, genomic location, size, and inheritance.

Methods: Retrospective study of singleton pregnancies with a pathogenic CNV or VUS from a single laboratory during 2012-2018. Probabilistic record linkage between the prenatal diagnosis dataset and perinatal outcome data for births from 20 weeks gestation was performed.

Ionic liquid-assisted synthesis of mesoporous polymers and carbon materials: the self-assembly mechanism.

Soft-templating synthesis has been widely employed to fabricate ordered mesoporous polymer and carbon materials with effectively tuneable pore sizes. However, the commonly used templating agents, block copolymers, are normally decomposed during the process, thus are barely recyclable; this increases the costs and hampers the scale-up feasibility. Therefore, it becomes imperative to seek promising alternatives; amphiphilic ionic liquids (ILs) are excellent candidates due to their good recyclability.

Reexamining the optimal nuchal translucency cutoff for diagnostic testing in the cell-free DNA and microarray era: results from the Victorian Perinatal Record Linkage study.

Background: The American College of Obstetricians and Gynecologists and the Society for Maternal-Fetal Medicine recently recommended offering genetic counseling and diagnostic testing for enlarged nuchal translucency at ≥3.0 mm, regardless of previous negative screening with noninvasive prenatal testing.

Objective: This study aimed to perform a population-based, individual record linkage study to determine the optimal definition of an enlarged nuchal translucency for the detection of atypical chromosome abnormalities.

Lesson of the month 2: A case of nitrous oxide-induced pancytopenia.

An 18-year-old female patient presented to the emergency department with non-specific neurological and gastrointestinal symptoms and was found to be pancytopenic. Her vitamin B level was low with a normal mean corpuscular volume and her full blood count 2 months previously had been within normal range. She reported heavy use of nitrous oxide over the previous 2 weeks and other investigations revealed no cause for her pancytopenia.