1324例妊娠早期胎儿地中海贫血产前基因诊断及随访结果分析  

Analyses of the prenatal gene diagnosis and the follow-up results of 1324 cases of fetal thalassemia during the first trimester of pregnancy

作　　者：黄金爱 李娇[1] 付华钰[1] 李萌[1] 陈汉锦[1] HUANG Jinai;LI Jiao;FU Huayu;LI Meng;CHEN Hanjin(Maternal and Child Health Care Hospital of Guangai Zhuang Autonomous Region,Nanning,Guangzi Zhuang Autonomous Region,530003)

机构地区：[1]广西壮族自治区妇幼保健院,南宁530003

出　　处：《中国计划生育学杂志》2025年第4期971-975,共5页Chinese Journal of Family Planning

基　　金：广西壮族自治区卫生健康委员会自筹经费科研课题(Z20200026;Z-A20230308)。

摘　　要：目的:探讨妊娠早期地中海贫血产前诊断结果及妊娠结局,旨为预防和控制重症地中海贫血患儿出生,提升出生缺陷防治能力提供依据。方法:回顾性分析2019年1月一2020年1月在本院行绒毛活检进行胎儿产前地中海贫血基因检测的高风险孕妇1324例诊断结果及妊娠结局。结果:在1324例绒毛样本中,检出α地中海贫血593例(61.7%),β地中海贫血266例(27.7%),α复合β地中海贫血共检出102例(10.6%);α地中海贫血胎儿基因类型主要为东南亚缺失型^(--SEA)/α(53.0%),其次为^(--SEA/--SEA)(21.8%),检出4例罕见基因型^(--SEA/--)THAI;中重型β地中海贫血81例(30.4%),主要基因类型为β^(CD41-42)/β^(CD17)(6.8%)、β^(CD41-42)/β^(-28)(4.5%)、β^(CD41-42)/β^(CD71-72)(3.0%);α复合β地中海贫血胎儿基因型主要为^(--SEA)/αα复合β^(CD41-42)/β^(N)(17.6%)、β^(CD17)/β^(N)(12.8%)和-α^(3.7)/αα复合β^(CD41-42)/β^(N)(9.8%)、β^(CD17)/β^(N)(7.8%);129例重型α地中海贫血胎儿母亲均选择终止妊娠,血红蛋白(Hb)H病胎儿自然流产和引产49例,正常分娩13例,64例中重型β地中海贫血胎儿母亲诊断后终止妊娠,正常分娩12例。结论:针对高风险地区人群及早开展胎儿地中海贫血基因产前诊断,并对中、重型地中海贫血胎儿家庭进行遗传咨询和干预,可有效减少重型地贫患儿的出生以及围生期的并发症。Objective:To investigate the prenatal gene diagnostic results during the first trimester of pregnancy and the pregnancy outcomes of pregnant women with fetal thalassemia,to prevent and control the birth of children with thalassemia major,and to provide the evidences for improving the prevention and treatment of the birth defects.Methods:A retrospective analysis was conducted on the diagnostic results and the pregnancy outcomes of 1324 pregnant women who underwent the abdominal villus biopsy for the prenatal thalassemia gene detection in the hospital from January 2019 to January 2020.Results:Among the 1324 villi samples for the thalassemia screening,the detection rates of α-thalassemia,β-thalassemia,andα-thalassemia withβ-thalassemia were 61.7%(593 cases),27.7%(266 cases)and 10.6%(102 cases),respectively.The athalassaemia fetal genetic types were mainly the southeast asia deletion type(-SEA/αα)(53.0%),followed by ^(--SEA/--SEA)(21.8%).4 cases with the rare gene type^(--SEA/--)THAI were detected.There were 81(30.4%)cases withβ-thalassemia major,and the main genotypes were βCD41-42/βCD17(6.8%).The main genotypes of the fetala-thalassemia with β-thalassemia were-SEA/ααwith βCD41-42/βN(17.6%),βCD17/βN(12.8%),-α3.7/αα with βCD41-42/βN(9.8%)and βCD17/βN(7.8%).129 women with fetalα-thalassemia major had chosen to terminate their pregnancies.There were 49 fetuses with spontaneous abortion because of hemoglobin(Hb)H and 49 fetuses with induced labor because of hemoglobin(Hb)H.13 women with the fetal hemoglobin(Hb)H had delivery.64 women with fetal β-thalassemia intermediate and major had terminated their pregnancies after diagnosis,and 12 women with fetal β-thalassemia intermediate and major were delivery.Conclusion:The early prenatal diagnosis of the fetal thalassemia of the high-risk pregnant women,and the genetic counseling and intervention for the family numbers of the pregnant women with fetal thalassemia intermediate and major can effectively reduce the birth of the newborns with thalassemia

关 键 词：胎儿 绒毛 产前诊断 地中海贫血 基因型 

分 类 号：R714.5[医药卫生—妇产科学]