摘要
目的了解2010年~2019年广东省出生缺陷诊断中染色体或基因诊断的应用状况。方法以2010年~2019年间在广东省58家出生缺陷监测医院产检的孕妇及胎儿(包括活产、死胎死产及7天内死亡者)为研究对,描述性分析广东省染色体或基因诊断出生缺陷确诊中运用。结果广东省57间出生缺陷监测医院2010~2019年共监测孕产妇257.29万例,检出缺陷儿到缺陷儿87598例,其中诊断依据为染色体或基因检测联合其他诊断方法的有4306例次占4.92%,染色体或基因为诊断依据其年度率的差异有统计学意义(χ~2=1587.00,P<0.001)。2010年~2019年广东省4306例经染色体或基因诊断的出生缺陷儿,共报告了839个独立的染色体或致病基因诊断病种,其中中21三体综合征占41.36%,18三体综合征占7.36%,地中海贫血占5.97%,47,XXY占2.56%,13三体综合征占1.3%,47,XXX占1.28%。Turner综合征占0.88%,47XYY占0.70%,其他独立无法合并的基因或染色异常占39.00%。接受染色体或基因诊断的出生缺陷患孕产妇年龄分组中,≥35岁组占比最高占32.15%,全部监测人群中该组占比为11.81%。2010~2019年共监测孕产妇257.29万例,检出缺陷儿到缺陷儿87598例,其中产前确诊31785例占36.30%,产后7天内确诊者51622例占58.90%,产后7天后确诊者4191例占4.80%。所有产前确诊的缺陷儿中接受染色体或基因诊断的缺陷儿产前确诊4030例,例占12.68%。以诊断依据分类对出生缺陷胎儿的治疗性引产情况进行分析,以染色体或基因诊断为诊断依据的患儿缺陷治疗性引产率为82.93%,以超声或超声联合为诊断依据的缺陷患儿治疗性引产率为40.18%。结论染色体或基因诊断是产前筛查是的有效方法,但新技术也带来了巨大挑战,这些技术在胎儿疾病诊断方面还需要积极探索,应与传统技术相互融合、综合应用。
Objective:Analyzing Current situation and trend of the application of chromosomal or genetic diagnosis of birth defects in Guangdong Province from 2010 to 2019.Results:From 2010 to 2019,58 birth defect surveillance hospitals in Guangdong Province monitored 257.29 million pregnant,and 87598 defective infants were detected.Among them,4306 cases were diagnosed by chromosomal or genetic diagnosis combined with other diagnostic methods,accounting for 4.29%.There was significant difference in the annual rate of ultrasound as the basis of diagnosis(χ~2=1587.00,P<0.001)。839 independent chromosomal or genetic diagnosis diseases were reported in 4306 cases of birth defects.Among them,trisomy 21 accounted for 41.36%,trisomy 18 accounted for 7.36%,thalassemia accounted for 5.97%,47xxy accounted for 2.56%,trisomy 13 accounted for 1.3%,and 47xxx accounted for 1.28%.Turner syndrome accounted for 0.88%,47xyy accounted for 0.70%,and other independent genes or abnormal staining accounted for 39.00%.Among the age groups of pregnant women with birth defects who received chromosomal or genetic diagnosis,32.15%of them were older than 35 years old group,and that′s 11.81%of all monitoring population.From 2010 to 2019,a total of 2.5729 million pregnant and lying in women were monitored,and 87598 cases of defective infants were detected.Among them,31785 cases were diagnosed by prenatal diagnosis,accounting for 36.30%,51622 cases were diagnosed within 7 days after delivery,accounting for 58.90%,and 4191 cases were diagnosed after 7 days after delivery,accounting for 4.80%.Among all the prenatal diagnosis defects,4030 cases(12.68%)were diagnosed by chromosomal or genetic diagnosis.The therapeutic induced labor rate of defective fetuses was 82.93%based on chromosome or gene diagnosis,and 40.18%with ultrasound or ultrasound combined.Conclusion:Chromosomal or genetic diagnosis is an effective method for prenatal birth defects screening,but new technology also brings great challenges.These technologies need to be actively explored in the diagnosis of fetal diseases and should be integrated with traditional diagnosis methods.
作者
徐昊立
李玉萍
吴云涛
朱颖贤
XU Hao-li;LI Yu-ping;WU Yun-tao;ZHU Ying-xian(Department Of Health Care,Guangdong Maternal And Child Health Hospital,Guangzhou 511442)
出处
《中国优生与遗传杂志》
2020年第7期870-872,894,共4页
Chinese Journal of Birth Health & Heredity
基金
广东省医学科研基金(C2019065)
关键词
染色体或基因诊断
出生缺陷
高龄妊娠
产前前诊断
Chromosomal or genetic diagnosis
Birth defects
Advanced maternal age
Prenatal diagnosis
