Neuromuscular diseases can have a tremendous impact on pregnant women and affect offspring. Healthcare providers need to have a firm understanding of the genetics involved as well as the potential complications that can arise when treating pregnant women who have been diagnosed with a neuromuscular disease or have an increased risk for delivering an infant affected by one of these disorders. Th...

Population-based genetic screening has been a mainstay of public health in the United States for many years. The goal of genetic screening is to identify individuals at increased risk for treatable diseases. The evolution of genetic testing to include multi-disease panels allows for new screening applications which challenge the traditional model of clinical genetics care by the identification ...

Although the majority of cancers result from complex interactions between genetic, epigenetic and environmental factors, inherited germ-line mutations with high penetrance account for approximately 5-10% of all tumors (Weitzel et al., 2010). Extrapolating these estimates to the Brazilian population, 2,850 to 5,720 of the 57,120 new breast cancer and 1,630 to 3,260 of the 32,600 new colorectal t...

BACKGROUND Genetic diseases represent a significant public health challenge in China that will need to be addressed by a correspondingly large number of professional genetic counselors. However, neither an official training program for genetic counseling, nor formal board certification, was available in China before 2015. In 2009, a genetic counseling training program based on role-playing was ...

Background: Mosaicism of a normal cell population and an unbalanced autosomal chromosome rearrangement is rarely seen. If the abnormal cell line contributes to a minor part of soma, the phenotype is expected to be normal. Case Report: We report a 29-year-old woman who had balance chromosomal translocation of 46,XX,t(5;21) with a 2-year-old affected girl, characterized by mental retardation, dys...

Recent developments in molecular genetics improved our knowledge on fetal genome and physiology. Novel scientific innovations in prenatal diagnosis have accelerated in the last decade changing our vision immensely. Data obtained from fetal genomic studies brought new insights to fetal medicine and by the advances in fetal DNA and RNA sequencing technology novel treatment strategies has evolved....

BACKGROUND Predictive testing for Huntington's disease has been available at the Medical Genetics Unit of the University of Genoa from 1987. In 1989, an integrated counseling protocol (geneticist, psychologist, and neurologist) was developed following International Guidelines. METHODS This is a retrospective analysis of the clinical charts and motivation questionnaires of persons seeking pred...