Abstract

As adolescents with a genetic syndrome transition to adult medical care, they may be referred to obstetrician-gynecologists for routine preventive or contraceptive services, screening, or counseling for sexually transmitted infection, or for menstrual management. Although some genetic syndromes have no physical or intellectual impairment, others have significant ones; therefore, education and gynecologic care should be based on a patient's intellectual and physical capabilities. It is important to remember that adolescents with or without a genetic syndrome are sexual beings. Thus, education about reproductive health, expectations for fertility, and healthy relationships is important when treating patients with genetic syndromes. Obstetrician-gynecologists must respect patient autonomy and avoid coercion in any discussions with a patient, including decisions about contraceptive choices, sexual activity, and pregnancy planning. Most patients who have genetic syndromes and are neurotypical can tolerate routine gynecologic examinations in the office, when necessary. A patient should not be forced to have an examination or be restrained for an examination. Obstetric care of adolescents and women with genetic syndromes can pose challenges and often requires a multidisciplinary approach from the time pregnancy is contemplated through the postpartum period. When caring for an adolescent with a genetic syndrome, individual patient and guardian concerns, medical diagnoses associated with the specific genetic syndromes, and medication interactions should be considered. Obstetrician-gynecologists are encouraged to seek out additional resources and expertise when caring for adolescents with underlying genetic syndromes.

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