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。
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,severeα-thalassemia is a fatal disease.Prenatal diagnosis and genetic counseling are the primary way to prevent the birth of a fetus with severeα-thalassemia.The technology of non-invasive ultrasonic screening is the most frequently used in severeα-thalassemia.There are more valuable ultrasonic indicators for screening severeα-thalassemia like cardiothoracic ratio,middle cerebral artery peak systolic velocity and inner diameter of fetal umbilical vein.However,some fetuses with severeα-thalassemia often show abnormal ultrasound manifestations in late pregnancy.Therefore,it is necessary to search for more sensitive ultrasonic features and indicators to screen severeα-thalassemia fetuses.These ultrasonic features and indicators can find severeα-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 severeα-thalassemia more precisely,which has significances.In this paper,we review the ultrasonic features and indicators related to prenatal screening for severeα-thalassemia.
作者
曾妮(综述)
万里凯(审校)
ZENG Ni;WAN Li-kai(Center for Reproductive Medicine and Genetics, the People′s Hospital of Guangxi Zhuang Autonomous Region, Nanning 530021, China)
出处
《中国临床新医学》
2020年第12期1278-1282,共5页
CHINESE JOURNAL OF NEW CLINICAL MEDICINE
基金
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)。
关键词
地中海贫血
重型
超声
产前筛查
Thalassemia
Severe type
Ultrasound
Prenatal screening
