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13三体和18三体综合征合并持续妊娠的管理考量

Management Considerations for Ongoing Pregnancies Complicated by Trisomy 13 and 18.

作者信息

Dotters-Katz Sarah K, Kuller Jeffrey A, Grace Matthew R, Laifer Steven A, Strauss Robert A

机构信息

Teaching Fellow, Division of Maternal-Fetal Medicine, University of North Carolina, Chapel Hill.

Professor of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Duke University, Durham, NC.

出版信息

Obstet Gynecol Surv. 2016 May;71(5):295-300. doi: 10.1097/OGX.0000000000000304.

Abstract

Pregnancies complicated by trisomy 13 (T13) or trisomy 18 (T18) present unique challenges for obstetric management. From the initial diagnosis, the task of counseling these women and families is difficult because fetal and neonatal outcomes vary depending on the phenotype and degree of intervention chosen by the family. A literature review was performed using PubMed to gather information regarding obstetric management and outcomes of pregnancies complicated by T13 and T18. Spontaneous abortion and in uterofetal demise occur at rates well above those seen in chromosomally normal pregnancies. In addition, infants with T13 or T18 frequently have structural anomalies, which lead to worse prognoses and long-term survival. In cases in which a woman and her family desire to continue the pregnancy, multidisciplinary consultation with obstetrics, social work, genetics, and pediatrics can optimize care of both the fetus and the mother. Most commonly, prenatal care does not differ from routine. A detailed delivery plan should be generated, specifically discussing interventions for the patient and her fetus. When managing pregnancies complicated by T13 and T18, active, open, and frequent communication between the patient, her family, and a multidisciplinary health care team throughout the pregnancy is crucial.

摘要

妊娠合并13三体(T13)或18三体(T18)给产科管理带来了独特的挑战。从最初诊断开始,为这些女性及其家庭提供咨询就很困难,因为胎儿和新生儿的结局取决于家庭选择的干预方式和表型。我们使用PubMed进行了文献综述,以收集有关妊娠合并T13和T18的产科管理及结局的信息。自然流产和宫内胎儿死亡的发生率远高于染色体正常的妊娠。此外,患有T13或T18的婴儿经常有结构异常,这会导致更差的预后和长期生存。在女性及其家庭希望继续妊娠的情况下,与产科、社会工作、遗传学和儿科进行多学科会诊可以优化对胎儿和母亲的护理。最常见的是,产前护理与常规护理并无不同。应制定详细的分娩计划,特别要讨论针对患者及其胎儿的干预措施。在管理妊娠合并T13和T18时,患者、其家庭与多学科医疗团队在整个孕期保持积极、开放和频繁的沟通至关重要。

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