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遗传性疾病女性妊娠管理 第 1 部分:结缔组织、肌肉、血管和骨骼系统疾病。

Management of pregnancy in women with genetic disorders, Part 1: Disorders of the connective tissue, muscle, vascular, and skeletal systems.

机构信息

Department of Obstetrics and Gynecology, Stanford University School of Medicine/Lucile Packard Children's Hospital (LPCH) at Stanford University, Stanford, CA 94305, USA.

出版信息

Obstet Gynecol Surv. 2011 Nov;66(11):699-709. doi: 10.1097/OGX.0b013e31823cdd50.

Abstract

UNLABELLED

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.

摘要

未加说明

由于早期诊断和日益有效的医学进步,越来越多患有各种遗传综合征的女性正在妊娠,这对产科护理提供者来说是一个重要问题。每年都有更多患有遗传疾病的女性达到生育年龄。辅助生殖技术的进步使可能因潜在诊断而导致生育能力受损的女性能够怀孕。这些女性的管理需要协调来自多个专业的医疗保健提供者的护理,以优化结果。特定于每种诊断的潜在严重的医疗问题通常存在于受孕前、产前、产时和产后期间,所有这些都必须得到识别,以便及时进行诊断和治疗。胎儿也可能面临与遗传疾病本身的遗传风险以及与母亲慢性疾病状况相关的风险相关的问题。本文将探讨可能影响结缔组织、肌肉、血管和骨骼系统的各种遗传障碍的女性所面临的问题。

目标受众

妇产科医生和家庭医生。

学习目标

完成 CME 活动后,医生应能够更好地对马凡综合征和埃勒斯-当洛斯综合征中观察到的心血管表现进行分类,评估各种遗传综合征的产前诊断选择和局限性,评估各种遗传综合征女性中胎儿的风险。确定本文所述各种遗传综合征孕妇的首选分娩方式。

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