巴氏水肿胎儿（纯合子α地中海贫血的校正）的产前诊断。病例报告。
Antenatal diagnosis of Bart's hydrops fetalis [correction of homozygous alpha thalassemia]. A case report.
作者信息
Doridot V, Sibony O, Luton D, Reyal F, Feraud O, Multon O, Oury J F, Blot P
机构信息
Department of Obstetrics and Gynecology, Hôpital Robert-Debré, Paris, France.
出版信息
Fetal Diagn Ther. 1999 Mar-Apr;14(2):122-4. doi: 10.1159/000020903.
OBJECTIVE
Diagnosis of the Bart's hydrops fetalis [corrected].
METHOD
Bart's hydrops fetalis [corrected] was discovered by chance in the fetus of a female Chinese patient. Major intrauterine growth retardation, oligohydramnios, an immobile fetus, and cardiomegaly were the principal echographic signs. Cordocentesis showed fetal anemia, and electrophoresis of fetal hemoglobin revealed the presence of Bart's hemoglobin.
RESULT
As there is no known effective treatment, termination of pregnancy was proposed to the patient.
CONCLUSIONS
Bart's hydrops fetallis [corrected] is a lethal condition. Early echographic signs (cardiothoracic index >0.50, placental thickening) can be screened during weeks 17-18 or even during weeks 13-14 of gestation. These signs would permit a reduction of invasive examinations in couples at risk.
目的
诊断巴氏水肿胎儿[校正后]。
方法
一名中国女性患者胎儿偶然被发现为巴氏水肿胎儿[校正后]。主要超声心动图表现为严重宫内生长受限、羊水过少、胎儿活动减少及心脏增大。脐血穿刺显示胎儿贫血，胎儿血红蛋白电泳显示存在巴氏血红蛋白。
结果
由于尚无已知有效治疗方法，建议患者终止妊娠。
结论
巴氏水肿胎儿[校正后]是一种致死性疾病。在妊娠17 - 18周甚至13 - 14周时可筛查早期超声心动图征象（心胸指数>0.50、胎盘增厚）。这些征象可减少有风险夫妇的侵入性检查。
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