Tongsong T, Wanapirak C, Sirivatanapa P, Sa-nguansermsri T, Sirichotiyakul S, Piyamongkol W, Chanprapaph P, Steger H F, Sekararithi R, Tuggapichitti A
Departments of Obstetrics and Gynecology and of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, 50200, Thailand.
J Reprod Med. 2001 Jan;46(1):18-22.
To evaluate the effectiveness of prenatal prevention of Hb Bart's hydrops fetalis.
The study was a prospective descriptive analysis of pregnant women attending an antenatal clinic between June 1990 and June 1998. The study consisted of two periods, the first half with no prenatal diagnosis (PND) (1990-1994) and the second half with PND. During the study period, all cases of Hb Bart's hydrops fetalis were prospectively collected and postnatally confirmed. In the second period, prenatal strategy to control severe thalassemia was introduced. The strategy included (1) carrier identification by retrospective (history review for known risk) and prospective screening (simple erythrocyte osmotic fragility test) in women without known risks, (2) the couples at risk were offered genetic counseling and cordocentesis, (3) analysis of fetal blood for diagnosis, and (4) counseling for termination of pregnancy.
During the first half of the study, the prevalence of Hb Bart's hydrops fetalis was 0.305 (89 in 29,399 deliveries). There were no fetuses with Hb Bart's hydrops fetalis among 16,360 screened pregnancies in the second half. However, of 6,856 pregnancies in the second half not screened due to a late first visit, 10 (0.15%) fetuses had Hb Bart's hydrops fetalis. Among the screened group, cordocentesis was performed in 361 pregnancies at risk, 170 and 191 from retrospective and prospective screening, respectively; and 75 (20.8%) were proven to have Hb Bart's disease, which was diagnosed before hydropic changes occurred.
The strategy proved effective in preventing Hb Bart's hydrops fetalis, and extensive experience with it suggests that it be considered an effective way to control severe thalassemia.
评估产前预防巴氏水肿胎儿的有效性。
本研究是对1990年6月至1998年6月期间在产前诊所就诊的孕妇进行的前瞻性描述性分析。该研究分为两个阶段，前半阶段无产前诊断（1990 - 1994年），后半阶段有产前诊断。在研究期间，前瞻性收集所有巴氏水肿胎儿病例并在产后确诊。在第二阶段，引入了控制重型地中海贫血的产前策略。该策略包括：（1）通过回顾性（对已知风险进行病史回顾）和前瞻性筛查（对无已知风险的女性进行简单红细胞渗透脆性试验）识别携带者；（2）为有风险的夫妇提供遗传咨询和脐带穿刺术；（3）分析胎儿血液进行诊断；（4）提供终止妊娠的咨询。
在研究的前半阶段，巴氏水肿胎儿的患病率为0.305（29399例分娩中有89例）。后半阶段16360例筛查妊娠中未发现巴氏水肿胎儿。然而，后半阶段因首次就诊晚而未筛查的6856例妊娠中，有10例（0.15%）胎儿患有巴氏水肿胎儿。在筛查组中，对361例有风险的妊娠进行了脐带穿刺术，其中170例和191例分别来自回顾性和前瞻性筛查；75例（20.8%）被证实患有巴氏病，在出现水肿变化之前就已确诊。
该策略被证明在预防巴氏水肿胎儿方面有效，丰富的经验表明它可被视为控制重型地中海贫血的有效方法。
