首页> 美国卫生研究院文献>Case Reports in Obstetrics and Gynecology >Preimplantation Genetic Diagnosis in Marfan Syndrome
【2h】

Preimplantation Genetic Diagnosis in Marfan Syndrome

机译:马凡氏综合征植入前遗传学诊断

代理获取
本网站仅为用户提供外文OA文献查询和代理获取服务,本网站没有原文。下单后我们将采用程序或人工为您竭诚获取高质量的原文,但由于OA文献来源多样且变更频繁,仍可能出现获取不到、文献不完整或与标题不符等情况,如果获取不到我们将提供退款服务。请知悉。

摘要

Marfan syndrome (MFS) is a systemic hereditable disorder of the connective tissue with mainly cardiovascular manifestations, such as aortic dilatation and dissection. We describe a case of a 32-year-old Caucasian woman, clinically asymptomatic with MFS who presented for genetic consultation to prevent the transmission of disease to her offspring. She underwent controlled ovarian stimulation (COH), in vitro fertilization (IVF) combined with preimplantation genetic diagnosis (PGD), and a singleton pregnancy with positive fetal heart rate was revealed. At 34 weeks' gestation she delivered vaginally a healthy premature male infant weighting 2440 gr. The patient remained asymptomatic during pregnancy, delivery, and 3 months postpartum. It is has to be mentioned that the availability of PGD is essential to prevent the transmission of disease to the next generation.
机译:马凡氏综合征(MFS)是结缔组织的系统性可遗传性疾病,主要表现为心血管表现,例如主动脉扩张和夹层。我们描述了一个32岁的白人妇女的病例,该妇女在临床上无MFS症状,她接受遗传咨询以防止疾病传给其后代。她接受了受控的卵巢刺激(COH),体外受精(IVF)结合植入前遗传学诊断(PGD),并发现了单胎妊娠,胎儿心律为正。妊娠34周时,她通过阴道分娩了健康的早产男婴,体重为2440 gr。该患者在怀孕,分娩和产后3个月内无症状。必须提到的是,PGD的可用性对于防止疾病向下一代的传播至关重要。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
代理获取

客服邮箱:kefu@zhangqiaokeyan.com

京公网安备:11010802029741号 ICP备案号:京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有
  • 客服微信

  • 服务号