Abstract：
BACKGROUND: The vascular form of Ehlers-Danlos syndromes occurs due to alterations in the COL3A1 gene. It has been associated with major vascular and hollow organ complications, leading to increased morbidity and mortality rates with pregnancy.
METHODS: We report a woman (gravida 9, para 9) diagnosed with vascular Ehlers-Danlos syndrome in her 70s after bowel rupture. Genetic testing revealed a null mutation in COL3A1 that is predicted to result in haploinsufficiency. Preceding diagnosis, she had 9 pregnancies with minimal complications.
CONCLUSIONS: While no evidence-based guidelines for obstetric care in vascular Ehlers-Danlos syndrome have been well-established, patients often are counseled and followed as high-risk pregnancies.
CONCLUSIONS: Null mutations resulting in haploinsufficiency likely have lower pregnancy risks than reported in the literature for vascular Ehlers-Danlos syndrome overall. Thus, understanding the specific COL3A1 mutation may help optimize counseling regarding pregnancy and facilitate decision-making regarding management.
METHODS: We report a woman (gravida 9, para 9) diagnosed with vascular Ehlers-Danlos syndrome in her 70s after bowel rupture. Genetic testing revealed a null mutation in COL3A1 that is predicted to result in haploinsufficiency. Preceding diagnosis, she had 9 pregnancies with minimal complications.
CONCLUSIONS: While no evidence-based guidelines for obstetric care in vascular Ehlers-Danlos syndrome have been well-established, patients often are counseled and followed as high-risk pregnancies.
CONCLUSIONS: Null mutations resulting in haploinsufficiency likely have lower pregnancy risks than reported in the literature for vascular Ehlers-Danlos syndrome overall. Thus, understanding the specific COL3A1 mutation may help optimize counseling regarding pregnancy and facilitate decision-making regarding management.
摘要：
背景：Ehlers-Danlos综合征的血管形式是由于COL3A1基因的改变而发生的。它与主要的血管和中空器官并发症有关，导致妊娠发病率和死亡率增加。
方法：我们报告了一名女性（gravida9，第9段），在70多岁时在肠破裂后诊断为血管Ehlers-Danlos综合征。基因检测揭示了COL3A1中的无效突变，预计会导致单倍体不足。预先诊断，她有9次怀孕，并发症很少。
结论：虽然没有建立血管Ehlers-Danlos综合征产科护理的循证指南，患者通常被作为高危妊娠者进行咨询和随访.
结论：导致单倍体功能不全的空突变可能比文献报道的血管性Ehlers-Danlos综合征的总体妊娠风险更低。因此，了解具体的COL3A1突变可能有助于优化有关妊娠的咨询,并促进有关管理的决策.
方法：我们报告了一名女性（gravida9，第9段），在70多岁时在肠破裂后诊断为血管Ehlers-Danlos综合征。基因检测揭示了COL3A1中的无效突变，预计会导致单倍体不足。预先诊断，她有9次怀孕，并发症很少。
结论：虽然没有建立血管Ehlers-Danlos综合征产科护理的循证指南，患者通常被作为高危妊娠者进行咨询和随访.
结论：导致单倍体功能不全的空突变可能比文献报道的血管性Ehlers-Danlos综合征的总体妊娠风险更低。因此，了解具体的COL3A1突变可能有助于优化有关妊娠的咨询,并促进有关管理的决策.
