Obstet Gynecol. 2019 Mar;133(3):598-599. doi: 10.1097/AOG.0000000000003123.
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.
当患有遗传综合征的青少年过渡到成人医疗保健时，他们可能会被转介给妇产科医生，以进行常规的预防或避孕服务、性传播感染的筛查或咨询，或进行月经管理。虽然有些遗传综合征没有身体或智力障碍，但其他的则有明显的障碍；因此，教育和妇科护理应基于患者的智力和身体能力。重要的是要记住，患有或没有遗传综合征的青少年都是性存在。因此，在治疗患有遗传综合征的患者时，关于生殖健康、生育期望和健康关系的教育是很重要的。妇产科医生必须尊重患者的自主权，避免在与患者的任何讨论中施加压力，包括避孕选择、性行为和妊娠计划的决策。大多数患有遗传综合征且神经发育正常的患者在必要时可以在办公室耐受常规的妇科检查。不应该强迫患者进行检查或对其进行约束以进行检查。青少年和患有遗传综合征的妇女的产科护理可能会带来挑战，通常需要在考虑怀孕到产后期间采取多学科方法。在照顾患有遗传综合征的青少年时，应考虑患者和监护人的个体关注、与特定遗传综合征相关的医疗诊断以及药物相互作用。鼓励妇产科医生在照顾患有潜在遗传综合征的青少年时寻求其他资源和专业知识。
