Lam Y H, Tang M H
Department of Obstetrics and Gynaecology, The University of Hong Kong, Tsan Yuk Hospital, Hong Kong, China.
Prenat Diagn. 2000 Nov;20(11):900-4. doi: 10.1002/1097-0223(200011)20:11<900::aid-pd944>3.3.co;2-i.
We have shown that fetuses affected by haemoglobin (Hb) Bart's disease can be reliably identified by their sonographic manifestation of cardiac enlargement at 12-14 weeks. Between 1995 and 1999, 282 couples were seen before 15 weeks. They were offered the options of chorionic villus sampling, or amniocentesis and DNA study, or ultrasound examination at 12-14 weeks, followed by cordocentesis and Hb study only when the ultrasound findings were abnormal. Two hundred and thirty-four at-risk pregnancies had ultrasound assessment at 12-14 weeks, 62 fetuses showed enlarged cardiothoracic ratio [mean (SD) 0.54 (0.02)] and four of them also had hydropic changes. Fifty-nine women agreed to undergo cordocentesis at 12-14 weeks and the procedure was successful in 57 cases (97%). Cordocentesis were performed by a freehand technique using a 26- or 24-gauge spinal needle with a 20-gauge introducer. Fifteen fetuses (25%) had bleeding from the cord and 12 fetuses (20%) had bradycardia following cordocentesis. The fetal loss rate was 8% (5/59). Hb Bart's disease was confirmed in all the 62 fetuses with cardiac enlargement. Their Hb concentration ranged between 3.1 to 8.4 g/dl. One hundred and seventy-two fetuses had normal ultrasound assessment and 148 of them were confirmed to be unaffected by Hb Bart's disease. Twenty-three pregnancies were ongoing and one miscarried at 15 weeks. We believe that sonographic assessment followed by selective cordocentesis at 12-14 weeks is a feasible prenatal diagnostic option for Hb Bart's disease.
我们已经表明，受血红蛋白（Hb）巴氏病影响的胎儿可通过其在12至14周时心脏增大的超声表现可靠地识别出来。1995年至1999年期间，有282对夫妇在孕15周前前来就诊。他们可以选择绒毛取样、羊膜穿刺术和DNA研究，或者在12至14周时进行超声检查，只有在超声检查结果异常时才进行脐带穿刺术和血红蛋白研究。234例高危妊娠在12至14周时进行了超声评估，62例胎儿显示心胸比增大[平均（标准差）0.54（0.02）]，其中4例还出现水肿改变。59名妇女同意在12至14周时进行脐带穿刺术，该操作在57例（97%）中成功。脐带穿刺术采用徒手技术，使用26号或24号脊椎穿刺针和20号引导针。15例胎儿（25%）脐带穿刺后出现脐带出血，12例胎儿（20%）出现心动过缓。胎儿丢失率为8%（5/59）。所有62例心脏增大的胎儿均确诊为Hb巴氏病。他们的血红蛋白浓度在3.1至8.4g/dl之间。172例胎儿超声评估正常，其中148例确诊未受Hb巴氏病影响。23例妊娠仍在继续，1例在15周时流产。我们认为，在12至14周时进行超声评估后选择性脐带穿刺术是诊断Hb巴氏病可行的产前诊断方法。
