简介：AbstractCongenital hypothyroidism (CH) is the most common neonatal endocrine disorder and one of the most common preventable causes of intellectual disability in the world. CH may be due to developmental or functional thyroid defects (primary or peripheral CH) or be hypothalamic-pituitary in origin (central CH). In most cases, primary CH is caused by a developmental malformation of the gland (thyroid dysgenesis, TD) or by a defect in thyroid hormones synthesis (dyshormonogenesis, DH). TD represents about 65% of CH and a genetic cause is currently identified in fewer than 5% of patients. The remaining 35% are cases of DH and are explained with certainty at the molecular level in more than 50% of cases. The etiology of CH is mostly unknown and may include contributions from individual and environmental factors. In recent years, the detailed phenotypic description of patients, high-throughput sequencing technologies, and the use of animal models have made it possible to discover new genes involved in the development or function of the thyroid gland. This paper reviews all the genetic causes of CH. The modes by which CH is transmitted will also be discussed, including a new oligogenic model. CH is no longer simply a dominant disease for cases of CH due to TD and recessive for cases of CH due to DH, but a far more complex disorder.

简介：AbstractReverse genetics via targeted modification of gene sequences to obtain a phenotype and the inference of a gene's function or regulatory mechanism is widely used as a potent tool in viral biology and application. However, while reverse genetics has contributed significantly to our understanding of molecular biology and the pathogenesis of viruses, its accessibility (operation) and openness (data) have raised many concerns regarding biosafety and biosecurity. In this review, we retrospectively examine the development of reverse genetics and its applications in virology, then emphasize global biosafety and biosecurity concerns regarding reverse genetics, and summarize global regulations, governance, and laws on reverse genetics. This review seeks to enhance our understanding and rational application of reverse genetics technology for the benefit of humankind.

简介：AbstractFetal growth restriction (FGR) is associated with multiple adverse perinatal outcomes, such as increased risk of intrauterine death, neonatal morbidity and mortality, and long-term adverse outcomes. Genetic etiological factors are critical in fetuses with intrauterine growth restriction, including chromosomal abnormalities, copy number variants, single gene disorders, uniparental disomy, epigenetic changes, and confined placental mosaicism. This paper aims to provide an overview of genetic defects related to FGR and to highlight the importance of prenatal genetic counseling and testing for precise diagnosis and management of FGR.

简介：AbstractThe International Society of Reproductive Genetics (ISRG) assembled a workgroup made up of clinicians, clinical laboratory directors, and scientists for the purpose of creating the guidelines for preimplantation genetic testing (PGT). The most up-to-date information and clinical insights for the optimal PGT practice were incorporated in these guidelines. Recommendations are provided for embryologists, medical geneticists, clinical laboratorians, and other healthcare providers to improve the wellbeing of patients seeking assisted reproductive treatment and their offspring.

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