| 摘要: |
| ［摘要］ 目的 分析广州市一家三级妇幼保健院2011～2019年地中海贫血（简称地贫）产前诊断的变化情况。方法 选取2011-01～2019-12期间进行地贫产前诊断的病例，回顾性分析胎儿为Hb Bart′s水肿综合征、非缺失型HbH病（HbH-CS、HbH-QS）或中间型/重型β-地贫高危的数量随年份变化的情况。把产前诊断的孕周划分为10～14周、15～19周、20～24周、≥25周，统计分析每年各孕周的地贫分布特征。结果 共有4 325例孕妇做了地贫基因的产前诊断，2 330例为Hb Bart′s水肿胎高危，259例为非缺失型HbH病高危，1 736例是中间型/重型β-地贫高危。非缺失型HbH病的产前诊断例数约占α-地贫的10.0%。每年α-地贫产前诊断的孕周分布以10～14周为主，占全年的比值波动于49.3%～73.6%之间，但孕10～14周β-地贫产前诊断病例数占该年所有孕周产前诊断例数的比值从35.1%逐渐增加至63.9%。结论 地贫早孕期产前诊断特别是β-地贫，比例有大幅度提高。有效的早孕产前诊断有助于降低重型地贫患儿的出生率，是减少孕妇其他并发症的关键。 |
| 关键词: 地中海贫血 产前诊断 非缺失型HbH病 孕周 |
| DOI：10.3969/j.issn.1674-3806.2020.10.05 |
| 分类号:R 556.6+1 |
| 基金项目: |
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| Analysis of prenatal diagnosis on 4325 cases of thalassemia |
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XU Li-li, ZHEN Li, HAN Jin, et al.
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Prenatal Diagnostic Center, Guangzhou Women and Children′s Medical Center Affiliated to Guangzhou Medical University, Guangdong 510623, China
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| Abstract: |
| ［Abstract］ Objective To analyze the changes of prenatal diagnosis of thalassaemia in a tertiary maternal and child health care hospital in Guangzhou city during 2011 and 2019. Methods From January 2011 to December 2019, the prenatal diagnosis cases of thalassemia were selected. The changes of the number of prenatal diagnosis per year for the fetuses at high risk of Hb Bart′s syndrome, non-deletional HbH disease(HbH-CS, HbH-QS) or moderate to severe β-thalassemia were respectively analyzed. The gestational weeks at prenatal diagnosis were divided into 10～14 weeks, 15～19 weeks, 20～24 weeks and ≥25 weeks, and the distribution characteristics of each gestational week per year were analyzed statistically. Results Prenatal diagnosis of thalassemia genes was performed on 4 325 pregnant women, among whom 2 330 cases were at high risk of Hb Bart′s syndrome, 259 cases at high risk of HbH disease and 1 736 cases at high risk of moderate to severe β-thalassemia. The prenatal diagnosis of non-deletional HbH disease accounted for approximately 10.0% of α-thalassemia. The annual distribution of gestational weeks for prenatal diagnosis of α-thalassemia was mainly 10～14 weeks, accounting for 49.3%～73.6% of the whole year, but the proportion of the prenatal diagnosis cases of 10～14 gestational weeks of β-thalassemia in the total number of prenatal diagnosis cases during all gestational weeks of the year increased gradually from 35.1% to 63.9%. Conclusion The proportion of prenatal diagnosis of thalassemia in early pregnancy, especially prenatal diagnosis of β-thalassemia, has been greatly increased. Effective prenatal diagnosis of early pregnancy helps to reduce the birth rate of children with severe types of thalassemia and is the key to reduce other complications for pregnant women. |
| Key words: Thalassemia Prenatal diagnosis Non-deletional HbH disease Gestational week |
