Royal Free Hospital, Obstetrics and Gynaecology, London, UK.
Haemophilia. 2010 Jul 1;16(4):584-91. doi: 10.1111/j.1365-2516.2009.02137.x. Epub 2010 Jan 12.
Bernard Soulier syndrome (BSS) is a rare disorder of platelets, inherited mainly as an autosomal recessive trait. It is characterised by qualitative and quantitative defects of the platelet membrane glycoprotein (GP) Ib-IX-V complex. The main clinical characteristics are thrombocytopenia, prolonged bleeding time and the presence of giant platelets. Data on the clinical course and outcome of pregnancy in women with Bernard Soulier syndrome is scattered in individual case reports. In this paper, we performed a systematic review of literature and identified 16 relevant articles; all case reports that included 30 pregnancies among 18 women. Primary postpartum haemorrhage was reported in 10 (33%) and secondary in 12 (40%) of pregnancies, requiring blood transfusion in 15 pregnancies. Two women had an emergency obstetric hysterectomy. Alloimmune thrombocytopenia was reported in 6 neonates, with one intrauterine death and one neonatal death. Bernard Soulier syndrome in pregnancy is associated with a high risk of serious bleeding for the mother and the neonate. A multidisciplinary team approach and individualised management plan for such women are required to minimise these risks. An international registry is recommended to obtain further knowledge in managing women with this rare disorder.
伯纳德-苏利埃综合征（BSS）是一种罕见的血小板疾病，主要以常染色体隐性遗传方式遗传。其特征是血小板膜糖蛋白（GP）Ib-IX-V 复合物的质量和数量缺陷。主要的临床特征是血小板减少症、出血时间延长和巨大血小板的存在。关于伯纳德-苏利埃综合征女性妊娠的临床过程和结局的数据散见于个别病例报告中。在本文中，我们对文献进行了系统综述，确定了 16 篇相关文章；所有病例报告均包括 18 名妇女的 30 例妊娠。10 例（33%）出现产后原发性大出血，12 例（40%）出现产后继发性大出血，15 例需要输血。有 2 名妇女因急症行产科子宫切除术。6 名新生儿出现同种免疫性血小板减少症，其中 1 例宫内死亡，1 例新生儿死亡。伯纳德-苏利埃综合征妊娠与母亲和新生儿严重出血的风险较高相关。需要多学科团队方法和个体化管理计划来最小化这些风险。建议建立一个国际登记处，以获得进一步了解管理这种罕见疾病的妇女。
