Chareonkul Pichit, Kraisin Janchay
Department of Obstetrics and Gynecology, Saraburi Center Hospital, Saraburi 18000, Thailand.
J Med Assoc Thai. 2004 Jan;87(1):8-15.
To evaluate the program in prevention and control of thalssemia among pregnant women and their spouses, prevention of new cases by screening tests, confirmatory test, genetic counselling, prenatal diagnosis, and selective abortion.
The pregnant women, attending antenatal care unit, Saraburi center hospital, as well as their spouses. 1 January 2000-31 December 2001
As part of the antenatal care assessment, pregnant women before 16 weeks gestation were screened, with pre- and post-test counselling, by osmotic fragility (OF) and dichorophenol indophenol precipitate (DCIP) tests, and confirmed by complete blood count (CBC), mean corpuscular volume (MCV), hemoglobin typing and polymerase chain reaction for alphathal1 (PCR alphathal1) if any of two screening tests was positive. The husbands of those who were carriers of severe thalassemia were encouraged to have thalassemia screening and confirmation. When both the pregnant women and their husbands were carriers of severe thalassemia, the pregnant women would voluntarily perform the prenatal diagnosis. Termination of pregnancy would be offered when the fetus had severe thalassemia.
There were 3,739 from 4,214 women (88.7% of all antenatal women), who participated in the program. OF and/or DCIP were positive in 1,742 of 3,739 subjects (46.5%). Of those, 960 from 1,742 (55.1%), had husbands who were willing to have the testing, and OF and/or DCIP were positive in 443 of 960 cases (46.1%). The confirmatory tests revealed carrier and disease of thalassemia, and hemoglobinopathies in 931 of 1,742 women (53.9%), and 135 of 960 husbands (14.0%). The 20 couples who had the possibility of having severe thalassemic newborns, were strongly advised to have prenatal diagnosis. The 12 risk pregnancies had been performed cordocentesis. Finally 3 of 12 (25.0%) fetuses were documented to have severe thalassemia and all of them decided to have selective abortion.
The screening model for thalassemia carriers by using the combination of OF and DCIP is the easy screening model. It can be done quickly, it is inexpensive, therefore it is suitable for large numbers of population screening. The systematic screening, confirmatory of thalassemia diagnosis and prenatal diagnosis are the measure of thalassemia prevention and control, and aims to decrease the number of newborns with severe thalassemia.
评估针对孕妇及其配偶的地中海贫血防控项目,通过筛查测试、确诊测试、遗传咨询、产前诊断及选择性流产预防新病例。
呵叻中心医院产前护理单位的孕妇及其配偶。2000年1月1日至2001年12月31日
作为产前护理评估的一部分,对妊娠16周前的孕妇进行筛查,并在测试前后进行咨询,采用渗透脆性(OF)和二氯酚靛酚沉淀(DCIP)测试,若两项筛查测试中有任何一项呈阳性,则通过全血细胞计数(CBC)、平均红细胞体积(MCV)、血红蛋白分型及α地中海贫血1型聚合酶链反应(PCRαthal1)进行确诊。鼓励重型地中海贫血携带者的丈夫进行地中海贫血筛查及确诊。当孕妇及其丈夫均为重型地中海贫血携带者时,孕妇将自愿接受产前诊断。若胎儿患有重型地中海贫血,则建议终止妊娠。
4214名女性中有3739名(占所有产前女性的88.7%)参与了该项目。3739名受试者中有1742名(46.5%)OF和/或DCIP呈阳性。其中,1742名中有960名(55.1%)的丈夫愿意接受检测,960例中有443例(46.1%)OF和/或DCIP呈阳性。确诊测试显示,1,742名女性中有931名(53.9%)为地中海贫血携带者及患病者,960名丈夫中有135名(14.0%)患有血红蛋白病。强烈建议20对有可能生育重型地中海贫血新生儿的夫妇进行产前诊断。12例高危妊娠进行了脐带穿刺术。最终,12例中有3例(25.0%)胎儿被诊断为重型地中海贫血,他们均决定进行选择性流产。
采用OF和DCIP联合检测地中海贫血携带者的筛查模式简便易行。检测速度快、成本低,因此适用于大规模人群筛查。系统性筛查、地中海贫血诊断确诊及产前诊断是地中海贫血防控措施,旨在减少重型地中海贫血新生儿数量。