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Genetics: Counseling, Testing, and Diagnosis

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Table of Contents

Continuing Medical Education
Foreword
Basic Science Update
   Terminology
   Modes of Inheritance
Genetic Technology and the Role of the Obstetrician–Gynecologist
   Traditional Cytogenetic Analysis
   Molecular Cytogenetic Techniques
   Molecular Technologies
Principles of Genetic Counseling
   Family History
   Pretest Counseling
   Disclosure of Results
Preconception and Prenatal Screening and Testing
   First- and Second-Trimester Serum Screening Options
   Cell-Free DNA Screening
   Invasive Diagnostic Testing
Genetic Screening for Mendelian Disorders
   Newborn Screening
   Family History Screening
   Ethnicity-based Carrier Screening
   Expanded Carrier Screening
Genetics and Fertility
   Structural Chromosomal Abnormalities
   Chromosomal Microdeletions
   Chromosomal Aneuploidy Syndromes
   Single-Gene Disorders
   Preimplantation Genetic Screening and Preimplantation Genetic Diagnosis
Hereditary Cancer Genetics
   Hereditary Breast and Ovarian Cancer Syndrome
   Lynch Syndrome
Special Concerns for Older Women
Future Directions
   Cell-Free DNA Screening
   Multigene Testing
   Pharmacogenomics
   Whole Exome Sequencing and Whole Genome Sequencing
Key Points
Appendix
References

 




Editor
Russell R. Snyder, MD

Associate Editor
Gretchen M. Lentz, MD

Past Editor
Raul Artal, MD

ISSN 1536-3619
Published 6 times per year