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《慢性病学杂志》[ISSN:1674-8166/CN:11-5900/R]

卷:

21

期数:

2020年11期

页码:

1631-1635

栏目:

论　著

出版日期:

2020-11-28

文章信息/Info

Title:

Prenatal genetic diagnosis of thalassemia among people of reproductive age in Huadu district of Guangzhou

作者:

鞠爱萍; 冷嫦娥; 林铿; 许碧秋; 欧阳碧微; 刘建珍; 覃燕龄

广州市花都区妇幼保健院检验科，广州 510800

Author(s):

JUAi-ping; LENGChang-e; LINKeng; XUBi-qiu; OUYANGBi-wei; LIUJian-zhen; QINYan-ling Huadu MaternityandChild Healthcare Hospital; Guangzhou510800; China Correspondingauthor:JUAi-ping; E-mail:2446181833@qq.com

Huadu MaternityandChild Healthcare Hospital,Guangzhou510800,China Correspondingauthor:JUAi-ping,E-mail:2446181833@qq.com

关键词:

地中海贫血; 产前标本; 产前诊断

Keywords:

Thalassemia;  Prenatal screening;  Prenatal diagnosis

分类号:

R556.61

DOI:

-

摘要:

目的 分析广州市花都区育龄人群地中海贫血高风险家庭基因突变类型及产前诊断情况，探讨降低严重 类型地中海贫血患儿出生的有效方法和重要意义。方法 选取2018年1月至2019年12月在花都区妇幼保健院进 行免费地中海贫血（包括婚检、孕前及产检）筛查的210个携带同型地中海贫血基因型的高风险家庭，对98例未 孕高风险家庭进行遗传咨询和优生指导，并督促其怀孕后及时进行产前诊断；对112个已怀孕的地中海贫血高风 险家庭，在孕9~11周取绒毛，孕16~22周取羊水，孕24~28周取脐血，标本采用单管多重跨越断裂点Gap-PCR+导流杂交技术进行胎儿地中海贫血产前基因诊断，并跟踪随访。结果 对地中海贫血初筛阳性的5 777对 育龄人口进行地中海贫血基因检测，筛查出高风险家庭210对（婚检43对，孕检102对，产检65对），其中α-地 中海贫血高风险家庭183对，β-地中海贫血高风险家庭27对。对90例孕早中期的α-地中海贫血高风险孕妇进行 产前诊断，检出重型α-地中海贫血Bart’s水肿胎儿8例（8.89%），中间型α-地中海贫血HbH病13例 （14.44%），α-地中海贫血基因携带者42例（46.67%）；对22例孕早中期的β-地中海贫血高风险孕妇进行产前诊 断，检出重型β-地中海贫血8例（36.36%），β-地中海贫血基因携带者10例（45.45%），其中αβ-地中海贫血2例 （1.78%）；健康胎儿31例，占27.68%。在受检家庭知情同意和自愿选择的原则下，8例重型α-地中海贫血（其中 有3例曾经有重型α-地中海贫血生育史）、8例重型β-地中海贫血（其中有2例曾经有重型β-地中海贫血生育史） 及5例中间型α-地中海贫血胎儿的受检家庭接受了终止妊娠的处理，其余91例胎儿的受检家庭选择继续妊娠。经 对胎儿流产组织基因型检测、胎儿出生后表型及基因型验证，与产前诊断结果相符。结论 通过对育龄人群地 中海贫血筛查和高风险家庭产前诊断，可以有效降低严重类型地中海贫血患儿的出生率，对提高该地区人口综合 素质有深远意义。

Abstract:

Objective To explore the effective method and important significance of reducing the birth of children with severe type of thalassemia by analyzing the type of gene mutation and prenatal diagno-sis in high-risk families with thalassemia in the Huadu district of Guangzhou. Methods From Janu-ary 2018 to December 2019, among the couples who were screened for free thalassemia（including pre-marital medical check up, pregnancy test and antenatal care）in the Huadu Maternal and Child Health Hospital,210 pairs of high-thalassemia genotypes were screened. Ninety-eight cases of non-pregnant high-risk families were given genetic counseling and eugenic guidance, and they were urged to perform prenatal diagnosis in time after pregnancy. For 112 pregnant women with high-risk thalassemia fami-lies, villi were collected from 9 to 11 weeks of pregnancy, amniotic fluid was collected from16 to 22 weeks, and cord blood was collected from24 to 28 weeks. The single tube multiple crossing break-point Gap-PCR + diversion hybridization technology was used to perform prenatal genetic diagnosis of fetal thalassemia and follow- up. Results The 5 777 pairs（11 554 people）who were initially screened positive for thalassemia were tested for thalassemia gene, and 210 pairs of high-risk families were screened （43 pairs for pre-marital examination, 102 pairs for pregnancy examination, and 65 pairs for maternity examination）. A total of 183 couples were in high-risk families with alpha-thalas-semia and 27 couples were in high-risk families with beta-thalassemia. Ninety cases of pregnant wom-en with high risk of α-thalassemia were diagnosed in the first and second trimesters, and there were8 cases（8.89%）of Bart’s edema of severe α-thalassemia,13 cases（14.44%）of HbH disease, 42 cases （46.67%）of α-thalassemia carriers. Twenty-two pregnant women with high risk ofβ-thalassemia were diagnosed in the first and second trimesters, and there were8 cases（36.36%）of β-thalassemia, 10 β-thalassemia carriers（45.45%）, 2 cases（1.78%）of αβ-thalassemia, and31 healthy fetuses ac-counted for 27.68% of the total. The results of regular follow-up were consistent with the results of prenatal diagnosis. Conclusion Through the thalassemia screening and prenatal diagnosis of high-risk families in the population of childbearing age, the birth rate of children with severe types of thalasse-mia can be effectively reduced, and it is of far-reaching significance to improve the overall quality of the population in the region.

参考文献/References:

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备注/Memo

备注/Memo:

基金项目：广州市花都区医疗卫生一般科研专项项目（18-HDWS-032） 作者简介：鞠爱萍，硕士，主管检验师，研究方向：产前诊断分子诊断 通信作者：鞠爱萍，E-mail:2446181833@qq.com

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更新日期/Last Update: 2020-11-28