Internal medicine

Fetus

Pediatrics

Thalassemia

Genetic counseling

Biology

Gene

Genotype

Obstetrics

Beta thalassemia

Prenatal diagnosis

Gynecology

Pregnancy

Genetics

Medicine

PubMed

To investigate the common genotypes of thalassemia of the pregnant woman in Wuhan area of China, and to make the prenantal gentic diagnosis for the fetus at high risk of thalassemia.A total of 357 pregnant woman with the primary positive screening in Wuhan area were included in this study. Genotypes were measured with PCR-flow cytometry, and fluorescence hybridization was used for detecting thalassmia gene. The husbands of the pregnant women with thalassmia were recalled for genetic analysis of thalassemia, and 9 cases of fetuses with high risk of thalassemia were detected by amniocontesis after genetic counseling.In 357 cases of the pregnant women in Wuhan area, the 214 cases were diagnosed as thalassemia, 80 cases were diagnosed as alpha thalassemia (up to 90%), whose genotypes were determind as --SEA/αα (78.75%) and -α3.7/αα (15.00%), while 133 cases were determind with genotype of IVS-2-654/N (43.61%), CD41-42/N (20.30%) and CD17/N (19.55%) in beta thalassemia (up to 80%). 9 prenatal diagnosis continued pregnancy included 1case of -α3.7/--SEA, 1 case of -α3.7/αα, 2 cases of --SEA/αα, 2 cases of IVS-2-654/N and 3 cases of normal, however, the pregnancy in prenatal diagnosis of -α3.7/--SEA voluntarily was terminated after genetic counseling. Follow-up results after delivery were consistent with prenatal diagnosis.Minor and static thalassemia were very common in Wuhan area. Genetic detection after primary screening, genetic counseling and prenatal diagnosis in pregnant women could provide a theoretical basis for the development of regional specific prevention of intermedius and critical thalassemia which is meaning for rearing and bearing better children.中国武汉地区孕妇地中海贫血基因检测及产前诊断.调查中国武汉地区孕妇地中海贫血（地贫）常见基因突变类型，并对地中海贫血高风险胎儿进行地中海贫血基因产前诊断.采用PCR-流式荧光杂交法对产检疑似地中海贫血的357例孕妇进行地中海贫血基因检测，召回阳性孕妇的丈夫进行地中海贫血基因检测。经遗传咨询，对9例孕有地中海贫血高风险胎儿的孕妇抽取羊水进行地中海贫血基因产前诊断.在357例疑似地中海贫血孕妇中，经基因确诊214例，其中α-地中海贫血孕妇80例，基因型--SEA/αα（78.75%）和-α3.7/αα（15.00%）占90%以上；β-地中海贫血孕妇133例，基因型为IVS-2-654/N（43.61%）、CD41-42/N（20.30%）和CD17/N（19.55%）占80%以上。9例行羊水穿刺地中海贫血基因产前诊断，其中1例-α3.7/--SEA、1例-α3.7/αα、2例--SEA/αα、2例IVS-2-654/N，3例正常，继续妊娠；1例-α3.7/--SEA，对家属充分遗传咨询后，自愿终止妊娠。分娩后随访结果与产前诊断相符.武汉地区孕妇地中海贫血以静止型和轻型最为常见；对疑似地中海贫血阳性的孕妇进行基因检测、遗传咨询、并对孕有高风险胎儿的孕妇进行地中海贫血基因产前诊断，能有效防止中间型和重型地中海贫血患儿出生，对优生优育具有重大意义.

[Genetic Analysis and Prenatal Diagnosis for Thalassemia of Pregnant Women in Wuhan Area of China].