The Key Laboratory of Thalassemia Medicine, Chinese Academy of Medical Sciences, Guangxi Medical University, Nanning, Guangxi, China.
Guangxi Key Laboratory of Thalassemia Research, Prenatal Diagnosis Center, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.
Arch Gynecol Obstet. 2018 Aug;298(2):307-311. doi: 10.1007/s00404-018-4807-4. Epub 2018 Jun 9.
The aim of the present study was to report experiences with invasive prenatal diagnosis of α-thalassemia for the prevention of Hb Bart's hydrops fetalis syndrome in the Guangxi Zhuang Autonomous Region, China.
Pregnant women and their partners who tested positive for α-thalassemia or were diagnosed with HbH diseases were counseled and suggested to undergo a prenatal diagnostic procedure for α-thalassemia. Fetal material was obtained by chorionic villus sampling (CVS) between 9 and 13 weeks of gestation, by amniocentesis between 16 and 24 weeks of gestation and by cordocentesis after 24 weeks of gestation. The α-thalassemia gene types were detected by gap polymerase chain reaction (Gap-PCR). All results were finally confirmed by DNA analysis after delivery or termination of pregnancy.
An invasive prenatal α-thalassemia diagnosis was performed in 3155 cases at risk for Hb Bart's hydrops fetalis syndrome at our hospital from 2002 to 2016. CVS was performed in 1559 cases (49.4%), amniocentesis in 1240 cases (39.3%) and cordocentesis in 356 cases (11.3%). In total, 786 fetuses were diagnosed as Hb Bart's hydrops fetalis syndrome. Among these cases, the α-thalassemia genotype was --/-- in 784 cases and --/-- in 2 cases. All affected pregnancies were terminated in time.
This extensive experience suggests that carrier screening, molecular diagnostics, genetic counselling, and prenatal diagnosis are effective measures to prevent Hb Bart's hydrops fetalis syndrome.
本研究旨在报告中国广西壮族自治区采用有创性产前诊断α-地中海贫血以预防 Hb Bart's 胎儿水肿综合征的经验。
对经α-地中海贫血筛查或诊断为血红蛋白 H 病的孕妇及其配偶进行咨询，并建议其进行α-地中海贫血产前诊断。在妊娠 9-13 周时通过绒毛膜绒毛取样（CVS）、妊娠 16-24 周时通过羊膜腔穿刺术、妊娠 24 周后通过脐带穿刺术获取胎儿标本。采用 gap 聚合酶链反应（Gap-PCR）检测α-地中海贫血基因类型。所有结果均在分娩或终止妊娠后通过 DNA 分析最终确认。
2002 年至 2016 年，我院对 3155 例有发生 Hb Bart's 胎儿水肿综合征风险的孕妇进行了有创性产前α-地中海贫血诊断。其中，1559 例行 CVS（49.4%）、1240 例行羊膜腔穿刺术（39.3%）、356 例行脐带穿刺术（11.3%）。共诊断出 786 例胎儿为 Hb Bart's 胎儿水肿综合征。其中 784 例基因型为--/--，2 例为--/--。所有受累胎儿均及时终止妊娠。
丰富的经验表明，携带者筛查、分子诊断、遗传咨询和产前诊断是预防 Hb Bart's 胎儿水肿综合征的有效措施。
