Department of Obstetrics and Gynecology, Universidade Estadual de Campinas, Campinas, SP, Brazil.
Division of Hematology, Department of Medicine, University of Washington, Seattle, Washington, United States.
Rev Bras Ginecol Obstet. 2022 Jun;44(6):593-601. doi: 10.1055/s-0042-1742314. Epub 2022 Feb 9.
Sickle cell disease (SCD) is the most common monogenic disease worldwide, with a variable prevalence in each continent. A single nucleotide substitution leads to an amino-acid change in the β-globin chain, altering the normal structure ofhemoglobin, which is then called hemoglobin S inherited in homozygosity (HbSS) or double heterozygosity (HbSC, HbSβ), and leads to chronic hemolysis, vaso-occlusion, inflammation, and endothelium activation. Pregnant women with SCD are at a higher risk of developing maternal and perinatal complications. We performed a narrative review of the literature considering SCD and pregnancy, the main clinical and obstetrical complications, the specific antenatal care, and the follow-up for maternal and fetal surveillance. Pregnant women with SCD are at a higher risk of developing clinical and obstetric complications such as pain episodes, pulmonary complications, infections, thromboembolic events, preeclampsia, and maternal death. Their newborns are also at an increased risk of developing neonatal complications: fetal growth restriction, preterm birth, stillbirth. Severe complications can occur in patients of any genotype. We concluded that SCD is a high-risk condition that increases maternal and perinatal morbidity and mortality. A multidisciplinary approach during pregnancy and the postpartum period is key to adequately diagnose and treat complications.
镰状细胞病(SCD)是全球最常见的单基因疾病,在各大洲的流行程度各不相同。一个单一核苷酸的替换导致β-珠蛋白链上的氨基酸改变,从而改变血红蛋白的正常结构,这种血红蛋白称为纯合子(HbSS)或双重杂合子(HbSC、HbSβ)遗传的血红蛋白 S,导致慢性溶血、血管阻塞、炎症和内皮细胞激活。患有 SCD 的孕妇发生母亲和围产期并发症的风险更高。我们对考虑 SCD 和妊娠的文献进行了叙述性综述,主要的临床和产科并发症、特定的产前护理以及母亲和胎儿监测的随访。患有 SCD 的孕妇发生疼痛发作、肺部并发症、感染、血栓栓塞事件、子痫前期和母亲死亡等临床和产科并发症的风险更高。她们的新生儿也有发生新生儿并发症的风险增加:胎儿生长受限、早产、死产。任何基因型的患者都可能发生严重并发症。我们的结论是,SCD 是一种高风险疾病,会增加母亲和围产期的发病率和死亡率。在怀孕期间和产后期间采用多学科方法是充分诊断和治疗并发症的关键。