检验医学与临床
檢驗醫學與臨床
검험의학여림상
JOURNAL OF LABORATORY MEDICINE AND CLINICAL SCIENCES
2014年
8期
1009-1010
,共2页
何升%张强%唐燕青%韦媛%陈秋莉%郑陈光
何升%張彊%唐燕青%韋媛%陳鞦莉%鄭陳光
하승%장강%당연청%위원%진추리%정진광
β-珠蛋白生成障碍%产前诊断%壮族地区
β-珠蛋白生成障礙%產前診斷%壯族地區
β-주단백생성장애%산전진단%장족지구
β-thalassemia%prenatal diagnosis%Zhuang area
目的:预防和控制广西地区β-珠蛋白生成障碍性贫血患儿的出生。方法1058对夫妇均为β-珠蛋白基因突变者,在孕早期取胎儿绒毛组织,孕中期取脐血或羊水,孕晚期取脐血;对羊水细胞和绒毛组织进行原位培养,脐血进行血液学和血红蛋白分析,分别采用培养前后的组织或脐血进行β-珠蛋白基因检测。结果1068例胎儿中检出β-珠蛋白生成障碍性贫血胎儿253例,携带者500例,正常胎儿315例。所有β-珠蛋白生成障碍性贫血胎儿均终止妊娠。结论在组织培养和血液学指标检测的基础上,基因检测能准确地对所有β-珠蛋白基因突变进行产前诊断,有效地避免了β-珠蛋白生成障碍性贫血患儿的出生。
目的:預防和控製廣西地區β-珠蛋白生成障礙性貧血患兒的齣生。方法1058對伕婦均為β-珠蛋白基因突變者,在孕早期取胎兒絨毛組織,孕中期取臍血或羊水,孕晚期取臍血;對羊水細胞和絨毛組織進行原位培養,臍血進行血液學和血紅蛋白分析,分彆採用培養前後的組織或臍血進行β-珠蛋白基因檢測。結果1068例胎兒中檢齣β-珠蛋白生成障礙性貧血胎兒253例,攜帶者500例,正常胎兒315例。所有β-珠蛋白生成障礙性貧血胎兒均終止妊娠。結論在組織培養和血液學指標檢測的基礎上,基因檢測能準確地對所有β-珠蛋白基因突變進行產前診斷,有效地避免瞭β-珠蛋白生成障礙性貧血患兒的齣生。
목적:예방화공제엄서지구β-주단백생성장애성빈혈환인적출생。방법1058대부부균위β-주단백기인돌변자,재잉조기취태인융모조직,잉중기취제혈혹양수,잉만기취제혈;대양수세포화융모조직진행원위배양,제혈진행혈액학화혈홍단백분석,분별채용배양전후적조직혹제혈진행β-주단백기인검측。결과1068례태인중검출β-주단백생성장애성빈혈태인253례,휴대자500례,정상태인315례。소유β-주단백생성장애성빈혈태인균종지임신。결론재조직배양화혈액학지표검측적기출상,기인검측능준학지대소유β-주단백기인돌변진행산전진단,유효지피면료β-주단백생성장애성빈혈환인적출생。
Objective To prevention and control the birth of children with β-thalassemia in Guangxi . Methods For couples with mutation of β-globin gene ,fetal villus tissues were collected at the first trimester ,cord blood or amniotic fluid were collected at the second trimester ,and cord blood were collected at the third trimester .In situ cultivation was performed for cells in amniotic fluid and villus tissues ,hematology and hemoglobin analysis were performed for cord blood ,andβ-globin gene was detected for tissues before and after cultivation or for cord blood .Re-sults Among 1 068 fetuses ,315 cases were definitely diagnosed with β-thalassemia ,500 cases were carriers ,and 253 cases were healthy .Pregnancies of women with fetus of β-thalassemia were all terminated .Conclusion On the basis of tissue cultivation and detection of hematology indicators ,the performance of gene detection could be valuable for the prenatal diagnosis of β-thalassemia in high-risk pregnancy ,which might be helpful for the prevention of the birth of children with β-thalassemia .