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Thalassaemia in pregnancy

机译：妊娠地中海贫血

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摘要

Thalassaemia is the most common monogenetic disease worldwide. Antenatal screening is effective and simple, and accurate genetic prenatal diagnosis can be achieved in early gestation. Less invasive methods are feasible with ultrasound fetal assessment for alpha-thalassaemia, analysis of circulating fetal nucleic acid in maternal plasma, and pre-implantation genetic diagnosis. Women with thalassaemia major and intermedia are at risk of various maternal complications, such as cardiac failure, alloimmunisation, viral infection, thrombosis, endocrine and bone disturbances. Therefore, it is prudent to adhere to a standard management plan in this group of pregnant women. Close monitoring of the maternal and fetal condition during pregnancy is essential, and various treatments, such as blood transfusion or postpartum prophylaxis for thromboembolism, may be indicated. After birth, resumption of iron chelation and bisphosphonates treatment is needed, and counselling on breast feeding and contraception should be given.
机译：地中海贫血是全球最常见的单基因疾病。产前筛查是有效而简单的，并且可以在妊娠早期实现准确的遗传产前诊断。侵入性较小的方法可行，可用于α-地中海贫血的超声胎儿评估，母体血浆中循环胎儿核酸的分析以及植入前遗传学诊断。患有重度地中海贫血和中度地中海贫血的妇女面临各种孕产妇并发症的风险，例如心力衰竭，同种免疫，病毒感染，血栓形成，内分泌和骨骼疾病。因此，谨慎的做法是在这组孕妇中遵守标准的管理计划。怀孕期间母婴的密切监视是至关重要的，并且可能需要进行各种治疗，例如输血或产后预防血栓栓塞。出生后，需要恢复铁螯合和双膦酸盐治疗，并应就母乳喂养和避孕提供咨询。

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