引用本文:曾 妮(综述),万里凯(审校).超声检测在重型α-地中海贫血产前筛查的应用进展[J].中国临床新医学,2020,13(12):1278-1282.
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超声检测在重型α-地中海贫血产前筛查的应用进展
曾 妮(综述),万里凯(审校)
530021 南宁,广西壮族自治区人民医院生殖医学与遗传中心
摘要:
[摘要]  地中海贫血是热带、亚热带等地区常见常染色体单基因遗传性疾病,中国南方尤其两广地区为高发区,其中重型α-地中海贫血有致死性,产前诊断和遗传咨询是减少其出生的首要办法。超声是产前无创筛查该病的最常用技术,心胸比值、大脑中动脉峰值流速、脐静脉内径等超声指标对筛查重型α-地中海贫血价值较高,但部分重型α-地中海贫血胎儿往往在晚孕期才出现异常超声表现。因此寻找更敏感的超声征象及指标,对在产前筛查出重型α-地中海贫血胎儿、缩小侵入性检查人群范围并及时终止妊娠意义重大。该文就产前筛查重型α-地中海贫血相关超声征象及指标进行了综述。
关键词:  地中海贫血  重型  超声  产前筛查
DOI:10.3969/j.issn.1674-3806.2020.12.24
分类号:R 445
基金项目:广西自然科学基金计划课题(编号:0575040);广西卫健委科研课题(编号:Z2013353)
Advances in the application of ultrasound in prenatal screening for severe α-thalassemia
ZENG Ni, WAN Li-kai
Center for Reproductive Medicine and Genetics, the People′s Hospital of Guangxi Zhuang Autonomous Region, Nanning 530021, China
Abstract:
[Abstract] Thalassemia is a common autosomal monogenic disease in tropical and subtropical areas. In Southern China, especially in Guangdong and Guangxi, it is a high incidence disease. In all types of thalassemia, severe α-thalassemia is a fatal disease. Prenatal diagnosis and genetic counseling are the primary way to prevent the birth of a fetus with severe α-thalassemia. The technology of non-invasive ultrasonic screening is the most frequently used in severe α-thalassemia. There are more valuable ultrasonic indicators for screening severe α-thalassemia like cardiothoracic ratio, middle cerebral artery peak systolic velocity and inner diameter of fetal umbilical vein. However, some fetuses with severe α-thalassemia often show abnormal ultrasound manifestations in late pregnancy. Therefore, it is necessary to search for more sensitive ultrasonic features and indicators to screen severe α-thalassemia fetuses. These ultrasonic features and indicators can find severe α-thalassemia fetuses in pregnancy, reduce the number of the patients who receive invasive examinations and help clinicians to make a decision for termination of abnormal pregnancies timely, and prevent the birth of fetuses with severe α-thalassemia more precisely, which has significances. In this paper, we review the ultrasonic features and indicators related to prenatal screening for severe α-thalassemia.
Key words:  Thalassemia  Severe type  Ultrasound  Prenatal screening