广东清远地区513例地中海贫血高危孕妇产前基因诊断分析
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摘要
目的了解广东省清远市地中海贫血高危孕妇的产前基因诊断情况,以期能够有效避免地中海贫血患儿的出生,降低清远市新生儿出生缺陷率。方法选取我院2013年6月-2018年6月间收治的513例地中海贫血高危孕妇(19例瑶族)作为研究对象进行研究,对所有高危孕妇进行基因诊断分析,同时在孕期对风险胎儿行脐血或羊水地中海贫血基因诊断。结果 531例地贫高危孕妇中共113例(22.08%)基因诊断显示为正常,静止型和轻型α-地贫分别为56例(10.83%)和121例(23.54%),中间型和重型α-地贫分别为44例(8.54%)和60例(11.67%),轻型β-地贫和轻型β-地贫并α-地贫分别为60例(11.67%)和29例(5.63%),中间型和重型β-地贫分别为14例(2.71%)和17例(3.33%);135例中重型α和β地贫孕妇中间型α地贫常见的基因类型为--SEA/-α3.7、--SEA/-αCSα和--SEA/-α4.2,重型α地贫常见基因类型是--SEA/--SEA,中间型和重型β地贫常见的基因类型是β41-42/β41-42、β41-42/β17和β41-42/β-28,临床上应予以重视。77例重型α和β地贫孕妇经建议均选择终止妊娠,58例中间型α和β地贫孕妇经过充分风险告知后39例选择终止妊娠,19例选择继续妊娠。19例瑶族孕妇中检出4例重型地贫胎儿(3例巴氏水肿胎、1例重型β地贫)。结论通过广泛实施地中海贫血基因筛查,对于地中海贫血高危孕妇进一步进行产前基因诊断,能够有效分辨出中间型和重型地贫胎儿,并采取针对性的处理措施,预防重型地贫胎儿的出生,减轻地贫患儿家庭及社会医疗负担。
Objective:To understand the prenatal genetic diagnosis of high-risk pregnant women with thalassemia in Qingyuan City,Guangdong Province,in order to effectively prevent the birth of children with thalassemia and reduce the birth defect rate of newborns in Qingyuan City. Methods:In our hospital in June 2013-as the research object to study between June 2018 513 cases of thalassemia in high-risk pregnant women were treated(19 cases Yao),genetic diagnosis analysis of all high-risk women,while in pregnancy risk of fetal row Umbilical blood or amniotic fluid thalassemia gene diagnosis. Results:A total of 113 cases(22.08%)of the 531 pregnant women with poor or high status were found to be normal,there were 56(10.83%)and 121(23.54%)cases of static and light-ground poverty,respectively,and there were 44 cases(8.54%)of intermediate type and 60 cases(11.67%)of heavy-ground poverty,respectively,Light-to-ground and light-to-ground poverty were 60(11.67%)and 29(5.63%),respectively,and intermediate and heavy-to-ground poverty were 14(2.71%)and 17(3.33%),respectively.The common genotypes of 135 cases of intermediate-to-heavy and thalassemia intermediate-type thalassemia are--SEA/-α3.7、--SEA/-αCSαand--SEA/-α4.2 common genotypes of severe thalassaemia--SEA/--SEA,intermediate and severe thalassemia common gene types areβ41-42/β41-42、β41-42/β17 and β41-42/β-28,which should be taken clinically. 77 cases of severe and thalassemia pregnant women were advised to choose to terminate the pregnancy,58 cases of intermediate and thalassemia pregnant women after full risk informed 39 cases chose to terminate the pregnancy,Four of the 19 pregnant women of Yao nationality were found to have4 cases of severe thalassemia(3 cases of Pap edema and 1 case of severe β thalassemia). Conclusion:Through the extensive implementation of thalassemia genetic screening,further prenatal genetic diagnosis for thalassemia high-risk pregnant women can effectively identify intermediate and heavy thalassemia fetuses,and take targeted treatment measures to prevent the birth and relief of severe thalassaemia fetuses. Family and social medical burden for children with thalassemia.
Objective:To understand the prenatal genetic diagnosis of high-risk pregnant women with thalassemia in Qingyuan City,Guangdong Province,in order to effectively prevent the birth of children with thalassemia and reduce the birth defect rate of newborns in Qingyuan City. Methods:In our hospital in June 2013-as the research object to study between June 2018 513 cases of thalassemia in high-risk pregnant women were treated(19 cases Yao),genetic diagnosis analysis of all high-risk women,while in pregnancy risk of fetal row Umbilical blood or amniotic fluid thalassemia gene diagnosis. Results:A total of 113 cases(22.08%)of the 531 pregnant women with poor or high status were found to be normal,there were 56(10.83%)and 121(23.54%)cases of static and light-ground poverty,respectively,and there were 44 cases(8.54%)of intermediate type and 60 cases(11.67%)of heavy-ground poverty,respectively,Light-to-ground and light-to-ground poverty were 60(11.67%)and 29(5.63%),respectively,and intermediate and heavy-to-ground poverty were 14(2.71%)and 17(3.33%),respectively.The common genotypes of 135 cases of intermediate-to-heavy and thalassemia intermediate-type thalassemia are--SEA/-α3.7、--SEA/-αCSαand--SEA/-α4.2 common genotypes of severe thalassaemia--SEA/--SEA,intermediate and severe thalassemia common gene types areβ41-42/β41-42、β41-42/β17 and β41-42/β-28,which should be taken clinically. 77 cases of severe and thalassemia pregnant women were advised to choose to terminate the pregnancy,58 cases of intermediate and thalassemia pregnant women after full risk informed 39 cases chose to terminate the pregnancy,Four of the 19 pregnant women of Yao nationality were found to have4 cases of severe thalassemia(3 cases of Pap edema and 1 case of severe β thalassemia). Conclusion:Through the extensive implementation of thalassemia genetic screening,further prenatal genetic diagnosis for thalassemia high-risk pregnant women can effectively identify intermediate and heavy thalassemia fetuses,and take targeted treatment measures to prevent the birth and relief of severe thalassaemia fetuses. Family and social medical burden for children with thalassemia.
引文
[1]马星卫,许吟,戴薇,等.贵阳地区1143例孕妇地中海贫血筛查及基因检测结果分析[J].重庆医学,2013,42(17):1990-1991.
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[4]郝颖,袁晖,吴晓霞,等. 498例地中海贫血产前基因诊断结果分析和方法学探讨[J].中国优生与遗传杂志,2017(4):28-31.
[5]唐娟,张崇林,蒋群芳,等.桂林地区地中海贫血产前诊断胎儿基因型探讨[J].中国优生与遗传杂志,2015(1):16-17.
[6]邓国生,张炬光,梁毅.玉林市220例夫妇同型地中海贫血的孕妇羊水及脐血产前胎儿基因诊断结果分析[J].中国实验诊断学,2013,17(11):2072-2074.
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[8]阙婷,李旺,李东明,等.孕早期胎儿地中海贫血基因型与血液学表型和产前诊断适应证的遗传研究[J].实用妇产科杂志,2014,30(6):435-439.
[9]李兵,尹爱华,骆明勇,等.广东省常用的三种β地中海贫血产前筛查方案的临床筛查效果比较[J].中华妇产科杂志,2015(6):434-440.
[10]王春芳,韦传东,雷茗,等. Gγ+(Aγδβ)0地中海贫血复合β地中海贫血家系的表型与基因型分析的警示[J].中国儿童保健杂志,2015,23(11):1191-1193.
[11]彭碧,刘燕燕,冯建军,等.绵阳城区孕妇α-地中海贫血缺失型基因分析[J].四川医学,2014(10):1272-1275.
[12]李燕,吴汉锋,钟伟明,等.广西贵港地区地中海贫血高危孕妇产前诊断分析[J].中国优生与遗传杂志,2015(11):20-21.
[13] Li Y,He H,Yang L,et al. Therapeutic effect of Colla corii asini on improving anemia and hemoglobin compositions in pregnant women with thalassemia.[J].International Journal of Hematology,2016,104(5):559-565.
[14]麦明琴,熊盈,周伟宁,等. QF-PCR在5358例地中海贫血产前诊断中对常见染色体病的诊断价值[J].实用中西医结合临床,2017,17(4):96-97.
[15] Yu X,Yang L Y,Yang H T,et al. Molecular epidemiological investigation of thalassemia in the Chengdu region,Sichuan province,southwestChina[J].Hemoglobin,2015,39(6):393-397.
[16]郝颖,徐晓昕,徐志勇,等.多重连接依赖性探针扩增技术在α地中海贫血产前诊断中的应用[J].中华医学遗传学杂志,2015,32(5):683-686.
[17] ZhaoP,WengR,WuH.MolecularSpectrumofα-andβ-Thalassemia Mutations in a Large Ethnic Hakka Population in Southern China[J].Hemoglobin,2018:1-5.
[18]吴杰,曾海燕.血液学分析联合基因诊断在地中海贫血产前诊断中的应用[J].国际检验医学杂志,2015,36(05):604-605+607.
[19]马秋林.地中海贫血产前诊断中绒毛及羊水穿刺术的应用研究[J].数理医药学杂志,2017,30(1):140-141.
[20]李浩贤,孙筱放.无创产前诊断技术应用于地中海贫血的研究进展[J].中国医药生物技术,2017,12(2):166-170.
[2]Charoenboon C,Jatavan P,Traisrisilp K,et al. Pregnancy outcomes among women with beta-thalassemia trait.[J].Archives of Gynecology&Obstetrics,2016,293(4):771-774.
[3]谭菊芳,李彩云,雷冬竹.郴州地区103例胎儿地中海贫血产前基因诊断分析[J].医学临床研究,2016,33(10):1915-1917.
[4]郝颖,袁晖,吴晓霞,等. 498例地中海贫血产前基因诊断结果分析和方法学探讨[J].中国优生与遗传杂志,2017(4):28-31.
[5]唐娟,张崇林,蒋群芳,等.桂林地区地中海贫血产前诊断胎儿基因型探讨[J].中国优生与遗传杂志,2015(1):16-17.
[6]邓国生,张炬光,梁毅.玉林市220例夫妇同型地中海贫血的孕妇羊水及脐血产前胎儿基因诊断结果分析[J].中国实验诊断学,2013,17(11):2072-2074.
[7]何升,郑陈光,张强,等.孕中期羊水产前诊断地中海贫血2275例分析[J].中国妇幼保健,2015,30(14):2245-2247.
[8]阙婷,李旺,李东明,等.孕早期胎儿地中海贫血基因型与血液学表型和产前诊断适应证的遗传研究[J].实用妇产科杂志,2014,30(6):435-439.
[9]李兵,尹爱华,骆明勇,等.广东省常用的三种β地中海贫血产前筛查方案的临床筛查效果比较[J].中华妇产科杂志,2015(6):434-440.
[10]王春芳,韦传东,雷茗,等. Gγ+(Aγδβ)0地中海贫血复合β地中海贫血家系的表型与基因型分析的警示[J].中国儿童保健杂志,2015,23(11):1191-1193.
[11]彭碧,刘燕燕,冯建军,等.绵阳城区孕妇α-地中海贫血缺失型基因分析[J].四川医学,2014(10):1272-1275.
[12]李燕,吴汉锋,钟伟明,等.广西贵港地区地中海贫血高危孕妇产前诊断分析[J].中国优生与遗传杂志,2015(11):20-21.
[13] Li Y,He H,Yang L,et al. Therapeutic effect of Colla corii asini on improving anemia and hemoglobin compositions in pregnant women with thalassemia.[J].International Journal of Hematology,2016,104(5):559-565.
[14]麦明琴,熊盈,周伟宁,等. QF-PCR在5358例地中海贫血产前诊断中对常见染色体病的诊断价值[J].实用中西医结合临床,2017,17(4):96-97.
[15] Yu X,Yang L Y,Yang H T,et al. Molecular epidemiological investigation of thalassemia in the Chengdu region,Sichuan province,southwestChina[J].Hemoglobin,2015,39(6):393-397.
[16]郝颖,徐晓昕,徐志勇,等.多重连接依赖性探针扩增技术在α地中海贫血产前诊断中的应用[J].中华医学遗传学杂志,2015,32(5):683-686.
[17] ZhaoP,WengR,WuH.MolecularSpectrumofα-andβ-Thalassemia Mutations in a Large Ethnic Hakka Population in Southern China[J].Hemoglobin,2018:1-5.
[18]吴杰,曾海燕.血液学分析联合基因诊断在地中海贫血产前诊断中的应用[J].国际检验医学杂志,2015,36(05):604-605+607.
[19]马秋林.地中海贫血产前诊断中绒毛及羊水穿刺术的应用研究[J].数理医药学杂志,2017,30(1):140-141.
[20]李浩贤,孙筱放.无创产前诊断技术应用于地中海贫血的研究进展[J].中国医药生物技术,2017,12(2):166-170.