Section outline

  • In this topic, we will examine the genetic counseling approaches in dysmorphology and genetic syndromes using chromosomal abnormalities as examples. We will also look into the different diagnostic approaches including the utility of genetic and molecular testing. 

    • [Book] Practical Genetic Counseling by Harper 7th Ed File

      This is a good textbook reference on genetic counseling approaches in various genetic syndromes. 

    • NSGC Practice Guidelines in Down Syndrome File

      This paper contains the practice guidelines in the prenatal and postnatal genetic counseling approaches in Down Syndrome. The focus of this paper is on communicating results to parents and families. 

    • Translocation Down Syndrome and Implications in Genetic Counseling File

      Down Syndrome has three types based on cytogenetic analysis: full trisomy 21, mosaic, and translocation. While Down Syndrome can be diagnosed clinically, cytogenetic analysis is recommended to ascertain the type of Down Syndrome because this has implications in the recurrence risk. In this paper by Padilla et al, they expounded on the cytogenetics of translocation Down Syndrome and how this can affect the approach in genetic counseling. 

    • Preconception Genetic Counseling in a Couple with a History of Trisomy 18 URL

      This is case report that documents genetic counseling issues and approaches in providing preconception counseling in a Filipino couple with a previous history of a child with Trisomy 18. 

    • Molecular Testing in Pediatrics File

      This review paper expounds on the use of molecular testing in the pediatric population, the different testing modalities, risks and benefits. 

    • Genetic testing resource File

      This is a good resource on genetic testing developed by the National Society of Genetic Counselors. It discusses the technology of genetic testing, its complexity, and the genetic counseling process in providing pre-test and post-test counseling. 

    • Predictive and presymptomatic genetic testing File

      This resource from the Human Genetics Society of Australia elaborates on the genetic counseling issues in predictive and presymptomatic genetic testing.