For the last three decades, enzyme replacement therapy (ERT) for Gaucher disease (GD) has been available. We aimed to evaluate the effect of ERT on the pregnancy and obstetric outcome in a unique group of multiparous women with type 1 GD (GD1) who had pregnancies with and without ERT. The Gaucher Unit database (1987-2019) was searched for multiparous women who had pregnancies before and after the institution of ERT. Data were collected from the clinic files and study-specific questionnaires. Descriptive, correlation analysis and generalized estimating equations (GEE) were used to study the effect of ERT and confounding variables on study outcomes. We identified 19 women with 105 pregnancies, among which 26 (24.7%) terminated in first-trimester miscarriage. The risk for miscarriage was associated with the severity of GD1 genotype and phenotype, but not with ERT usage. Early postpartum hemorrhage (PPH) was reported in 16 (84%) women after 25 deliveries (31.6%, 95% CI 21.6%-43.1%). The risks of early PPH and red blood cell (RBC) transfusions were significantly lower when ERT was used during pregnancy, OR (95% CI) 0.13 (0.03-0.54) and 0.27 (0.08-0.94), respectively, compared to pregnancies without the use of ERT. Enzyme replacement therapy during pregnancy is risk reducing for early PPH and RBC transfusions in women with GD1. We suggest considering ERT for the benefit of all pregnant women with GD1, including mild GD1.

中文翻译：

---

戈谢病经产妇产后出血的风险：呼吁所有孕妇重新考虑酶替代疗法

在过去的三十年里，已经出现了用于戈谢病 (GD) 的酶替代疗法 (ERT)。我们的目的是评估 ERT 对一组独特的 1 型 GD (GD1) 经产妇女妊娠和产科结局的影响，这些女性在有和没有 ERT 的情况下怀孕。Gaucher Unit 数据库 (1987-2019) 搜索了在实施 ERT 之前和之后怀孕的经产妇。从临床档案和研究特定问卷中收集数据。描述性、相关性分析和广义估计方程 (GEE) 用于研究 ERT 和混杂变量对研究结果的影响。我们确定了 19 名妇女，共 105 次怀孕，其中 26 名 (24.7%) 因妊娠早期流产而终止。流产的风险与 GD1 基因型和表型的严重程度有关，但不适用于 ERT。16 名 (84%) 妇女在 25 次分娩后报告了早期产后出血 (PPH) (31.6%, 95% CI 21.6%-43.1%)。与未使用 ERT 的妊娠相比，妊娠期间使用 ERT 的早期 PPH 和红细胞 (RBC) 输血风险显着降低，OR (95% CI) 分别为 0.13 (0.03-0.54) 和 0.27 (0.08-0.94)使用 ERT。妊娠期间的酶替代疗法可降低 GD1 女性早期 PPH 和 RBC 输血的风险。我们建议为了所有 GD1 孕妇的利益考虑 ERT，包括轻度 GD1。03-0.54) 和 0.27 (0.08-0.94)，与未使用 ERT 的妊娠相比。妊娠期间的酶替代疗法可降低 GD1 女性早期 PPH 和 RBC 输血的风险。我们建议为了所有 GD1 孕妇的利益考虑 ERT，包括轻度 GD1。03-0.54) 和 0.27 (0.08-0.94)，与未使用 ERT 的妊娠相比。妊娠期间的酶替代疗法可降低 GD1 女性早期 PPH 和 RBC 输血的风险。我们建议为了所有 GD1 孕妇的利益考虑 ERT，包括轻度 GD1。