Alter B P, Modell C B, Fairweather D, Hobbins J C, Mahoney M J, Frigoletto F D, Sherman A S, Nathan D G
N Engl J Med. 1976 Dec 23;295(26):1437-43. doi: 10.1056/NEJM197612232952601.
We attempted prenatal diagnosis of hemoglobinopathies in 15 cases--11 for beta-thalassemia and four for sickle-cell disease. Fetoscopy was used in seven cases, and placental aspiration in eight. One premature labor, with fetal loss, followed placental aspiration. Globin synthesis was assessed by incubation of samples with 3H-leucine and chain separation on carboxymethylcellulose columns. Homozygous disease was predicted in two pregnancies, which were interrupted, and the diagnosis confirmed. In one case homozygosity was suspected. A repeat test was advised but not accepted. The fetus had thalassemia trait. One pregnancy was interrupted despite our prediction of thalassemia trait. Eight pregnancies went to term. Seven predictions that the infants would not have homozygous disease were confirmed. One prediction of sickle trait proved to be sickle-cell disease. Although prenatal diagnosis of hemoglobinopathies is feasible, the present frequency of fetal loss and diagnostic error indicates need for improvement.
我们对15例血红蛋白病进行了产前诊断，其中11例为β地中海贫血，4例为镰状细胞病。7例采用了胎儿镜检查，8例采用了胎盘穿刺术。胎盘穿刺术后发生了1例早产并导致胎儿丢失。通过将样本与3H-亮氨酸一起孵育并在羧甲基纤维素柱上进行链分离来评估珠蛋白合成。预测有2例妊娠为纯合子疾病，这2例妊娠被终止，诊断得到证实。在1例中怀疑为纯合子。建议进行重复检测，但未被接受。胎儿患有地中海贫血特征。尽管我们预测胎儿为地中海贫血特征，但仍有1例妊娠被终止。8例妊娠足月。7例预测婴儿不会患有纯合子疾病得到证实。1例预测为镰状细胞特征的结果证实为镰状细胞病。虽然血红蛋白病的产前诊断是可行的，但目前胎儿丢失和诊断错误的发生率表明仍需改进。
