Obstetrics and Gynecology, Inonu University School of Medicine, Malatya, Turkey.
Z Geburtshilfe Neonatol. 2023 Jun;227(3):168-178. doi: 10.1055/a-2024-0819. Epub 2023 Mar 8.
Bernard-Soulier syndrome (BSS) is one of the rare inherited platelet disorders that is characterized by macrothrombocytopenia and adhesion abnormality due to the absence or malfunctioning of the membrane GPIb-IX-V complex. There is no high-quality evidence on obstetric management of BSS owing to its rarity. Here we report an uncomplicated delivery of an adolescent with BSS and review the literature on the topic of BSS and pregnancy.
PUBMED, EMBASE, COCHRANE, and Google Scholar databases were searched up to April 2022 without language and year restriction using the terms "Bernard Soulier" and "Pregnancy". The primary objectives were to evaluate maternal and fetal outcomes. The secondary objectives were to analyze pregnancy complications, gestational age at delivery, mode of delivery, administered prophylaxis, treatment approaches, duration of postpartum hospitalization, and the postpartum requirement of blood and blood product.
The patient was a 19-year-old and 39-week pregnant woman who was diagnosed with BSS at the age of 10 by flow cytometry and genetic analysis. Single donor platelet transfusions and oral tranexamic acid were administered as prophylaxis at the peripartum period. She was delivered by cesarean section due to failure of labor. The postpartum period was uneventful for both mother and neonate. In the literature review, postpartum hemorrhage (PPH) was found in 52.9% (27/51) of deliveries. Late PPH occurred more frequently than early PPH (35.3 and 31.4%, respectively). 49% (25/51) of pregnancies had severe thrombocytopenia, and antepartum hemorrhage was observed in 11.8% (6/51) of those. The platelet count was in close relation to antenatal complications. 64.7% (33/51) of the patients were delivered via cesarean section. PPH and late PPH were found to be more common in those who delivered vaginally compared to those who delivered by caesarean section. It was observed that PPH was less common in women who were given prophylaxis in the peripartum period.
BSS is an inherited macro-thrombocytopathy that may cause adverse maternal and neonatal outcomes. The optimal mode and timing of delivery remain unclear. A multidisciplinary approach with prophylaxis at the peripartum period should be applied.
伯纳德-苏利耶综合征（BSS）是一种罕见的遗传性血小板疾病，其特征为巨血小板减少症和由于膜 GPIb-IX-V 复合物缺失或功能障碍导致的黏附异常。由于其罕见性，目前尚无关于 BSS 产科管理的高质量证据。在此，我们报告了一例青少年 BSS 患者的顺利分娩，并回顾了关于 BSS 和妊娠的文献。
我们在 2022 年 4 月之前，在 PUBMED、EMBASE、COCHRANE 和 Google Scholar 数据库中，使用“Bernard Soulier”和“Pregnancy”这两个术语，对语言和年份没有限制进行了检索。主要目标是评估母婴结局。次要目标是分析妊娠并发症、分娩时的胎龄、分娩方式、预防性给药、治疗方法、产后住院时间以及产后对血液和血液制品的需求。
患者是一名 19 岁的 39 周孕妇，10 岁时通过流式细胞术和基因分析诊断为 BSS。在围产期给予单供者血小板输注和口服氨甲环酸作为预防措施。由于分娩失败，她行剖宫产分娩。母婴均在产后无并发症。在文献回顾中，发现 52.9%（27/51）的分娩中出现产后出血（PPH）。晚期 PPH 比早期 PPH 更常见（分别为 35.3%和 31.4%）。49%（25/51）的妊娠存在严重血小板减少症，11.8%（6/51）的孕妇出现产前出血。血小板计数与产前并发症密切相关。64.7%（33/51）的患者行剖宫产分娩。与剖宫产分娩相比，阴道分娩的患者 PPH 和晚期 PPH 更为常见。在围产期给予预防措施的患者中，PPH 较少见。
BSS 是一种遗传性巨血小板减少症，可能导致母婴不良结局。最佳的分娩方式和时机尚不清楚。应采用围产期预防的多学科方法。
