首页> 外文期刊>Human fertility: journal of the British Fertility Society >In vitro maturation and surrogacy in patients with vascular-type Ehlers-Danlos syndrome - A safe assisted reproductive technology approach
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In vitro maturation and surrogacy in patients with vascular-type Ehlers-Danlos syndrome - A safe assisted reproductive technology approach

机译:血管性Ehlers-Danlos综合征患者的体外成熟和代孕-一种安全的辅助生殖技术方法

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摘要

Ehlers-Danlos syndrome (EDS) is an autosomal dominant connective tissue disorder with one of the highest maternal mortality rates of any condition. Patients with the vascular type of EDS are prone to spontaneous arterial and visceral ruptures. The occurrence of these severe and life-threatening complications is increased in pregnancy. Moreover, these patients carry a 50% risk of having an affected child. However, little is known about the risks of assisted conception treatments on these patients. We present the case of a 33-year-old woman suffering from EDS with a history of repeated ruptures of arterial aneurysms and a recently ruptured aneurysm of the splenic artery during her first intracytoplasmic sperm injection (ICSI) cycle who was then advised to undergo only unstimulated cycles. After a few natural ICSI cycles, the patient safely underwent two in vitro maturation cycles with pre-implantation genetic diagnosis in our unit. An unaffected blastocyst was transferred into a surrogate host. To our knowledge, this is the first case of EDS in assisted reproduction technologies including pre-implantation genetic diagnosis to be reported in the medical literature. This case has shown that unstimulated in vitro maturation and pre-implantation genetic diagnosis can safely be offered for vascular-type Ehlers-Danlos patients.
机译:Ehlers-Danlos综合征(EDS)是常染色体显性遗传性结缔组织疾病,是任何情况下孕产妇死亡率最高的疾病之一。血管性EDS患者容易发生自发性动脉和内脏破裂。这些严重且危及生命的并发症在孕妇中的发生率增加。此外,这些患者的孩子患病风险为50%。但是,对于这些患者的辅助受孕治疗的风险知之甚少。我们介绍了一名33岁的女性,患有EDS的历史,在其第一次胞浆内单精子注射(ICSI)周期中,反复出现动脉瘤破裂和脾动脉近期破裂,然后建议仅进行一次无刺激的周期。经过几个自然的ICSI周期后,患者在我们单位中安全地经历了两个体外成熟周期,并进行了植入前遗传学诊断。将未受影响的胚泡转移到替代宿主中。据我们所知,这是在医学文献中报道的包括生殖前遗传诊断在内的辅助生殖技术中的EDS的第一例。该案例表明,血管型Ehlers-Danlos患者可以安全地进行未经刺激的体外成熟和植入前遗传学诊断。

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