重型地中海贫血的产前诊断。
Antenatal diagnosis of thalassaemia major.
作者信息
Fairweather D V, Modell B, Berdoukas V, Alter B P, Nathan D G, Loukopoulos D, Wood W, Clegg J B, Weatherall D J
出版信息
Br Med J. 1978 Feb 11;1(6109):350-3. doi: 10.1136/bmj.1.6109.350.
Abstract
Haemoglobin synthesis was studied in fetal blood samples obtained at 17 to 20 weeks' gestation in 22 women at risk of carrying a fetus with homozygous beta-thalassaemia. A presumptive diagnosis of homozygous beta-thalassaemia was made in four cases, and the pregnancy was terminated. An inconclusive answer was obtained in one case, and the patient also chose to have her pregnancy terminated. Two fetuses were lost as a result of the procedure. Of the remaining 15 pregnancies, 13 proceeded to term and two to 36 weeks; in each case a normal infant or one heterozygous for beta-thalassaemia was delivered. Current efforts should be directed towards improving the blood sampling technology so that fetal blood sampling can be used widely in those countries where thalassaemia is a major problem.
摘要
对22名怀有患纯合子β地中海贫血胎儿风险的女性，在妊娠17至20周时采集的胎儿血样中血红蛋白合成情况进行了研究。4例被初步诊断为纯合子β地中海贫血，妊娠被终止。1例结果不明确，患者也选择终止妊娠。该操作导致2例胎儿丢失。在其余15次妊娠中，13例足月分娩，2例在36周分娩；每例均分娩出一名正常婴儿或一名β地中海贫血杂合子婴儿。目前应致力于改进采血技术，以便在那些地中海贫血是主要问题的国家广泛应用胎儿采血技术。
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