Abstract: This monograph describes recent updates in medical genetics, genetic screening, and genetic testing relevant to obstetrician-gynecologists. The information contained within this document will enable the obstetrician-gynecologist to become comfortable with the recommended use of genetics in the generalist obstetric-gynecologic practice. Basic genetic terminology, principles of genetics, and new technologies are reviewed because an understanding of these concepts is crucial for incorporating genetics into clinical practice. Understanding the basic principles also is important for interpreting test results and discussing them with patients.
The principles of genetic counseling are outlined because genetic counseling is an important aspect of genetic assessment. Genetic counseling also includes disclosing both normal and abnormal test results and communicating implications of these results to the patient and her family members. Genetic screening and genetic testing are an important aspect of women's health care throughout various phases of a woman's life. This monograph includes information regarding preconception and prenatal counseling, screening, and testing. Interpretation of prenatal test results and follow-up also are discussed as is genetic evaluation of a patient with infertility.
The field of hereditary cancer genetics is evolving rapidly. This is particularly important for the obstetrician-gynecologist because several hereditary cancer syndromes, including hereditary breast and ovarian cancer syndrome and Lynch syndrome, may be encountered in the obstetric-gynecologic clinic. This monograph also discusses the latest updates on different types of hereditary gynecologic cancer, including genetic testing for these conditions.