ACOG Technology Assessment No. 11: Genetics and molecular diagnostic testing.
Human genetics and molecular testing are playing an increasingly important role in medicine, including obstetric and gynecologic practice. As the genetic basis for reproductive disorders, common diseases, and cancer is elucidated with improved molecular technology, genetic testing opportunities are expanding and influencing treatment options and prevention strategies. It is essential that obstetrician-gynecologists be aware of advances in the understanding of genetic disease and the fundamental principles of genetic screening and molecular testing as genetics becomes a more integral part of routine medical practice. This document reviews the basics of genetic transmission and genetic technologies in current use.
D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005260:Female; D017353:Gene Deletion; D020440:Gene Duplication; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics; D005821:Genetic Techniques; D005820:Genetic Testing; D015894:Genome, Human; D005838:Genotype; D006176:Gynecology; D006801:Humans; D025202:Molecular Diagnostic Techniques; D009154:Mutation; D009774:Obstetrics; D011247:Pregnancy