Management of Pregnancy in Women With Genetic Disorders, Part 1: Disorders of the Connective Tissue, Muscle, Vascular, and Skeletal Systems

医学 马凡氏综合征 怀孕 遗传咨询 产科 疾病 基因检测 重症监护医学 产前诊断 胎儿 生物信息学 病理 外科 内科学 遗传学 生物
作者
Shilpa Chetty,Brian L Shaffer,Mary E. Norton
出处
期刊:Obstetrical & Gynecological Survey [Lippincott Williams & Wilkins]
卷期号:66 (11): 699-709 被引量:84
标识
DOI:10.1097/ogx.0b013e31823cdd50
摘要

Due to early diagnosis and increasingly effective medical advances, the number of women with various genetic syndromes who are undergoing pregnancy is increasing, and this represents an important issue for providers of obstetric care. Each year more women with genetic disease reach childbearing age. Advances in assisted reproductive technology have enabled pregnancy in a cohort of woman who may experience impaired fertility due to their underlying diagnosis. Management of these women requires coordination of care by healthcare providers from multiple specialties to optimize outcomes. Potentially serious medical issues specific to each diagnosis often exist in the preconception, antepartum, intrapartum, and postpartum periods, all of which must be recognized to allow timely diagnosis and treatment. The fetus may also face issues related to risk for inheritance of the genetic disorder itself, as well as risks related to the chronic disease status of the mother. This article will explore the issues faced by women with various genetic disorders that may affect connective tissue, muscular, vascular, and skeletal systems. Target Audience: Obstetricians & Gynecologists and Family Physicians Learning Objectives: After the completing the CME activity, physicians should be better able to classify the cardiovascular manifestations observed in Marfan syndrome and Ehlers-Danlos, evaluate prenatal diagnostic options and limitations for various genetic syndromes, assess the risks to the fetus in women with various genetic syndromes. Determine whether there is a preferred mode of delivery for pregnant patients with various genetic syndromes described in this paper.
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