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唐氏综合征产前筛查及诊断的研究进展

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唐氏综合征在临床中比较常见,对患儿的正常生长发育产生严重影响.唐氏综合征即21-三体综合征,属于多发性染色体疾病,以新生儿智力低下等为主要表现,给患儿家庭及社会带来了沉重的负担.当前,临床中对唐氏综合征并没有特效治疗方案,只能是加强产前筛查及诊断,尽早干预,从而有效抑制染色体疾病及先天缺陷发生率,降低唐氏综合征患儿出生率,实现优生优育的目标.在唐氏综合征产前筛查中,有效的筛查技术对疾病诊断具有重要意义,遗传学诊断技术、分子学诊断技术在唐氏综合征筛查中应用均比较多,不同诊断技术在诊断机制方面存在差异,但都能够达到疾病诊断的目的.为提高唐氏综合征筛查与诊断效率,临床中需结合孕妇实际情况,对诊断技术合理选择与应用,从而提高新生儿质量.本文对唐氏综合征产前筛查及诊断的研究进展进行综述,以期为唐氏综合征的临床筛查提供参考.
Research progress on prenatal screening and diagnosis of Down syndrome
Down syndrome is very common in clinical practice and has a serious impact on the normal growth and development of children.Down syndrome,also known as trisomy 21 syndrome,belongs to multiple chromosomal diseases,mainly characterized by intellectual disability in newborns,which brings a heavy burden to the families and society of affected children.At present,there is no specific treatment plan for Down syndrome in clinical practice.The only solution is to strengthen prenatal screening and diagnosis,intervene early,effectively suppress the incidence of chromosomal diseases and congenital defects,reduce the birth rate of Down syndrome children,and achieve the goal of eugenics.In prenatal screening for Down syndrome,effective screening techniques are of great significance for disease diagnosis.Genetic diagnostic techniques and molecular diagnostic techniques are widely used in Down syndrome screening.Different diagnostic techniques have differences in diagnostic mechanisms,but they can all achieve the purpose of disease diagnosis.In order to improve the screening and diagnostic efficiency of Down syndrome,it is necessary to combine the actual situation of pregnant women in clinical practice,and reasonably select and apply diagnostic techniques to improve the quality of newborns.This article reviews the research progress on prenatal screening and diagnosis of Down syndrome,in order to provide reference for clinical screening of Down syndrome.

Down syndromePrenatal screeningDiagnosisResearch progress

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天津市河西区妇幼保健计划生育服务中心妇女保健科,天津 300210

唐氏综合征 产前筛查 诊断 研究进展

2024

中国城乡企业卫生
中华预防医学会 天津市职业病防治院

中国城乡企业卫生

影响因子:0.239
ISSN:1003-5052
年,卷(期):2024.39(4)
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