Counseling for Prenatal Diagnosis and Screening
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,…
for Prenatal Diagnosis by Invasive Testing
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…
and Genome-Based Diagnostics
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…
References
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….
History in Risk Assessment
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…
References
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…
References
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….
