Wu Heming, Wang Huaxian, Lan Liubing, Zeng Mei, Guo Wei, Zheng Zhiyuan, Zhu Huichao, Wu Jie, Zhao Pingsen
Clinical Core Laboratory.
Center for Precision Medicine, Meizhou People's Hospital (Huangtang Hospital), Meizhou Academy of Medical Sciences, Meizhou Hospital Affiliated to Sun Yat-sen University.
Medicine (Baltimore). 2018 Dec;97(52):e13557. doi: 10.1097/MD.0000000000013557.
This study is a retrospective analysis of the prenatal genetic diagnosis results of fetuses with high risk of major thalassemia to provide information for clinical genetic counseling and to better control the birth of major thalassemia child in Hakka population. Totally, 467 fetuses in at-risk pregnancies were collected from Meizhou people's hospital from January 2014 to December 2017. Genomic DNAs were extracted from peripheral blood of the couples and villus, amniotic fluid or cord blood of the fetuses. DNA-based diagnosis was performed using polymerase chain reaction (PCR) and flow-through hybridization technique. Follow-up visits were done half a year after the fetuses were born. Around 467 fetus at-risk pregnancies were performed prenatal diagnosis. We detected 88 CVS samples, 375 amniocentesis fluid samples and, 4 cord blood samples. The 356 fetuses in α-thalassemia families consisted of 69 (19.38%) with Bart's hydrops syndrome, 20 (5.62%) fetuses with Hb H disease, and 184 (51.68%) fetuses with heterozygote. And the 111 fetuses in β-thalassemia families consisted of 31 (27.93%) thalassemia major, 51 (45.95%) fetuses with heterozygote. There are 13 fetuses with α+β-thalassemia, including 2 cases with severe β-thalassemia. DNA-based testing prenatal diagnosis of thalassemia was found to be highly reliable. Our findings provide key information for clinical genetic counseling of prenatal diagnosis for major thalassemia in Hakka pregnant women. Our work plays an important role in the prevention and control of thalassemia in Hakka population. We will also combine other techniques to further improve our molecular prenatal diagnostic capabilities, including the next-generation sequencing (NGS), Sanger sequencing and MLPA.
本研究对重型地中海贫血高风险胎儿的产前基因诊断结果进行回顾性分析，旨在为临床遗传咨询提供信息，以更好地控制客家人群中重型地中海贫血患儿的出生。2014年1月至2017年12月期间，从梅州市人民医院收集了467例高危妊娠胎儿。从夫妇外周血以及胎儿的绒毛、羊水或脐血中提取基因组DNA。采用聚合酶链反应（PCR）和导流杂交技术进行基于DNA的诊断。在胎儿出生半年后进行随访。对约467例高危妊娠胎儿进行了产前诊断。我们检测了88例绒毛取样（CVS）样本、375例羊水样本和4例脐血样本。α地中海贫血家族中的356例胎儿中，有69例（19.38%）患有巴氏水肿综合征，20例（5.62%）患有血红蛋白H病，184例（51.68%）为杂合子。β地中海贫血家族中的111例胎儿中，有31例（27.93%）为重型地中海贫血，51例（45.95%）为杂合子。有13例α+β地中海贫血胎儿，其中2例为重型β地中海贫血。基于DNA检测的地中海贫血产前诊断被发现具有高度可靠性。我们的研究结果为客家孕妇重型地中海贫血产前诊断的临床遗传咨询提供了关键信息。我们的工作在客家人群地中海贫血的防控中发挥着重要作用。我们还将结合其他技术进一步提高我们的分子产前诊断能力，包括下一代测序（NGS）、桑格测序和多重连接探针扩增技术（MLPA）。
