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,我国南方尤其两广地区为高发区,其中重型地贫有致残性和致死性,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地贫价值较高,但部分重型地贫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,以期在产前筛查出重型地贫胎儿、缩小侵入性检查人群范围并及时终止妊娠、更精准地阻止重型地贫儿的出生意义重大。现就产前筛查重型地贫相关超声征象及指标予以综述。 |
关键词: 地中海贫血 重型 超声 产前筛查 |
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基金项目:广西卫计委科研课题(编号:Z2013353);广西自然科学基金计划课题(桂科基0575040) |
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Research Progress of prenatal ultrasonic screening indicators for Thalassemia major ZENG Ni, WAN Li-kai. (Center for Reproductive medicine and Genetics,the People’s Hospital of Guangxi Zhuang Autonomous Region, Nanning 530021,China) |
zengni
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the People’s Hospital of Guangxi Zhuang Autonomous Region
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Abstract: |
Thalassemia is a common autosomal monogenic disease distributed in the tropical and subtropical areas .South China especially Guangdong and Guangxi provinces is a high-prevalence area. Particularly, thalassemia major is disabling and fatal disease ,and using antenatal diagnosis and genetic counseling to prevent the birth fetus of severe thalassemia is the primary way for this disease .The technology of invasive ultrasonic screening is the most frequently used in thalassemia major. There are more valuable indicators for screening severe thalassemia like Cardiothoracic ratio(CTR), The middle cerebral artery peak systolic velocity (MCA-PSV), inner the diameter of fetal umbilical vein ,and so on. However, some severe thalassemia fetuses often show abnormal ultrasound manifestations in late pregnancy. Therefore, it is necessary to search the more sensitive ultrasonic symptom and indicators to screen severe thalassemia fetuses .These symptom and indicators can find severe thalassemia fetuses in pregnancy, reduce the number of people who use invasive examinations and help clinician to make a decision for termination of pregnancy timely ,at the same time those are preventing the birth of severe thalassemia more precisely .Now this article reviews the ultrasonic symptom and indicators about screening for severe thalassemia fetuses in the stage of pregnancy. |
Key words: Thalassemia Severe ultrasound prenatal screening |