中国当代医药
中國噹代醫藥
중국당대의약
PERSON
2015年
10期
4-6
,共3页
产前预测%基因诊断%地中海贫血
產前預測%基因診斷%地中海貧血
산전예측%기인진단%지중해빈혈
Prenatal prediction%Gene diagnosis%Thalassemia
目的：探讨产前基因诊断预测地中海贫血胎儿的价值。方法选取本院2010年1月~2013年12月65例父母为地中海贫血基因携带的胎儿为受试对象，均抽取羊水给予产前基因诊断，引产或分娩后留取脐带血检验诊断准确性。结果65例风险胎儿中诊断为地中海贫血者48例，其中--SEA/--SEA型10例，-αSEA/αα和CD41-42/CD41-42各3例，-α3.7/αα、-αα1/αα、CD41-42/-α3.7和-α4.2/αα各检出2例，CD41-42/(-CTTT)型检出19例，-28(A→G)型检出5例。48例产前基因诊断为地中海贫血胎儿中，引产率为26.8%，分娩率为73.2%，其中--SEA/--SEA型的10例胎儿引产8例，分娩2例；-αSEA/αα和CD41-42/CD41-42均引产2例，分娩1例；CD41-42/-α3.7均引产；剩余胎儿均成功分娩；所有胎儿脐带血检测结果与产前羊水基因检测结果一致。结论对地中海贫血携带夫妇孕育的高风险胎儿予以产前基因检测，准确率较高，对优生优育等具有积极意义，值得临床推广。
目的：探討產前基因診斷預測地中海貧血胎兒的價值。方法選取本院2010年1月~2013年12月65例父母為地中海貧血基因攜帶的胎兒為受試對象，均抽取羊水給予產前基因診斷，引產或分娩後留取臍帶血檢驗診斷準確性。結果65例風險胎兒中診斷為地中海貧血者48例，其中--SEA/--SEA型10例，-αSEA/αα和CD41-42/CD41-42各3例，-α3.7/αα、-αα1/αα、CD41-42/-α3.7和-α4.2/αα各檢齣2例，CD41-42/(-CTTT)型檢齣19例，-28(A→G)型檢齣5例。48例產前基因診斷為地中海貧血胎兒中，引產率為26.8%，分娩率為73.2%，其中--SEA/--SEA型的10例胎兒引產8例，分娩2例；-αSEA/αα和CD41-42/CD41-42均引產2例，分娩1例；CD41-42/-α3.7均引產；剩餘胎兒均成功分娩；所有胎兒臍帶血檢測結果與產前羊水基因檢測結果一緻。結論對地中海貧血攜帶伕婦孕育的高風險胎兒予以產前基因檢測，準確率較高，對優生優育等具有積極意義，值得臨床推廣。
목적：탐토산전기인진단예측지중해빈혈태인적개치。방법선취본원2010년1월~2013년12월65례부모위지중해빈혈기인휴대적태인위수시대상，균추취양수급여산전기인진단，인산혹분면후류취제대혈검험진단준학성。결과65례풍험태인중진단위지중해빈혈자48례，기중--SEA/--SEA형10례，-αSEA/αα화CD41-42/CD41-42각3례，-α3.7/αα、-αα1/αα、CD41-42/-α3.7화-α4.2/αα각검출2례，CD41-42/(-CTTT)형검출19례，-28(A→G)형검출5례。48례산전기인진단위지중해빈혈태인중，인산솔위26.8%，분면솔위73.2%，기중--SEA/--SEA형적10례태인인산8례，분면2례；-αSEA/αα화CD41-42/CD41-42균인산2례，분면1례；CD41-42/-α3.7균인산；잉여태인균성공분면；소유태인제대혈검측결과여산전양수기인검측결과일치。결론대지중해빈혈휴대부부잉육적고풍험태인여이산전기인검측，준학솔교고，대우생우육등구유적겁의의，치득림상추엄。
Objective To explore the value of prenatal gene diagnosis for prediction of fetuses with thalassemia. Meth-ods 65 fetuses in our hospital from January 2010 to December 2013 whose parents were carriers of thalassemia genes were selected.Their amniotic fluids were drawn for prenatal gene diagnosis.Umbilical cord blood was reserved after labour induction or delivery for testing the accuracy of diagnosis. Results 48 cases of 65 fetuses at risk were diagnosed as thalassemia,among them,type --SEA/--SEA were 10 cases;type -αSEA/αα and CD41-42/CD41-42 were 3 cases respec-tively;type -α3.7/αα,-αα1/αα,CD41-42/-α3.7 and -α4.2/αα were 2 cases respectively;type CD41-42/(-CTTT) were 19 cases;type -28 (A→G) were 5 cases.Among 48 fetuses diagnosed as thalassemia by prenatal gene diagnosis,the rate of labour induction was 26.8%,and the pregnancy rate was 73.2%,in which 8 cases of 10 fetuses with type --SEA/--SEA were born by labour induction,and 2 were born by pregnancy;2 fetuses with type-αSEA/ααand CD41-42/CD41-42 were born by labour induction and 1 case was born by pregnancy;fetuses with type CD41-42/-α3.7 was born by labour induc-tion;other fetuses were born by pregnancy;test results of umbilical cord blood for all fetuses were consistent with the re-sults of prenatal gene tests of amniotic fluid. Conclusion Fetuses at risk who are gestated by parents of thalassemia carriers are all given prenatal gene tests,which have high accuracy and positive significance for bearing and rearing better children,and are worthy of clinical promotion.
