Genetic Counseling for Prenatal Diagnosis and Screening The majority of genetic counselors practice in the setting of a prenatal diagnosis program. The professional staff of a prenatal diagnosis program (physician,…
Although the parents of a child with chromosomal aneuploidy may have normal chromosomes themselves, in some situations there may still be an increased risk for a chromosomal abnormality in a…
General References Buckingham L. Molecular diagnostics: fundamentals, methods and clinical applications. ed 2. F.A. Davis and Co: Philadelphia; 2011. Gardner RJM, Sutherland GR, Shaffer LG. Chromosome abnormalities and genetic counseling….
Molecular and Genome-Based Diagnostics Advances over the past few years in mutation detection have provided major improvements in risk assessment, carrier detection, and prenatal diagnosis, in many cases allowing determination…
Family History in Risk Assessment Family history is clearly of great importance in diagnosis and risk assessment. Applying the known rules of mendelian inheritance, as introduced in Chapter 7, allows…
Specific References Chen P-S, Su J-L, Hung M-C. Dysregulation of microRNAs in cancer. J Biomed Sci. 2012;19:90. Chin L, Anderson JN, Futreal PA. Cancer genomics, from discovery science to personalized…
General References Garraway LA, Lander ES. Lessons from the cancer genome. Cell. 2013;153:17–37. International Agency for Research on Cancer (IARC), World Health Organization. www.cruk.org/cancerstats; 2014. Schneider L. Counseling about cancer….
