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无创性产前诊断研究现状及进展
全世界每年约有500万缺陷儿出生,给家庭和社会带来巨大的精神和经济负担.因此,广泛开展产前筛查与诊断,及早发现严重致残或致死性异常并终止妊娠是防治出生缺陷的重要措施.传统的产前诊断是通过侵入性方法获取胎儿组织,如羊水、绒毛、脐血后提取DNA,对其进行基因分析,获得产前诊断结果,判断胎儿预后.随着新技术的应用,特别是分子生物学技术和医学遗传学的发展,产前诊断技术不断地朝着早期、快速、准确、无创伤的方向发展,使得越来越多的出生缺陷能够在胚胎发育的较早期,安全、准确地诊断出来.
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产前诊断中的染色体芯片与核型分析:孰优孰劣
2012年12月6日出版的第367卷《新英格兰医学杂志》的封面论文主题为基因芯片,本文为其中一篇,标题为"Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis".哥伦比亚大学医学中心为主的研究人员历时四年进行了一项临床试验,评估了基因芯片在产前诊断中的应用前景,并与传统染色体核型分析进行了比较.
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"胎儿腹裂合并其他畸形:临床的重要性"点评
1原文Objective To report the prevalence of the association between gastroschisis and other anomalies,their prenatai characteristics and the postnatal follow-up.Methods Prenatal and postnatal data from all patients with gastroschis prenatally diagnosed between January 1998 and December 2006 were reviewed concerning the presence of associated anomalies.RtsultsGastroschisis was prenatally diagnosed in 108 fetuses.Associated anomalies were identified in 14 cases (prevalence of 13.O%),with prenatal diagnosis being made in 5(35.7%)patients.Postnatal examination revealed the association of other anomalies in nine other newborns not observed during prenatal examinations.Maternal age,parity,gestational age at diagnosis and birth,delivery mode and birth weight were similar in cases with‘isolated gastroschisis'and associated anomalies(p>0.05).Survival rates in the‘isolated gastroschisis group'and‘associated anomaly group'were 91.5 and 78.6%(P>0.05),respectively.The median time before oral feeding tended to be longer(but not statistical significantly)in the‘associated anomaly group'(32,range:5-720 days)compared to the ‘isolated gastroschisis group'(22,range:5-180 days;p=0.06),but with a significantly longer permanence in neonatal intensive care unit(p=0.04).Conclusion This study highlights the importance of identifyirig other anomalies when evaluating fetuses with gastroschisis to permit counselling concerning the postnatal outcomes.
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“磁共振与超声(MRI-US)融合成像在产前诊断中的应用研究”的点评
1 原文题目及摘要MRI and ultrasound fusion imaging for prenatal diagnosisObjective A combination of magnetic resonance imaging (MRI) images with real time highresolution ultrasound known as fusion imaging may improve prenatal examination.This study was undertaken to evaluate the feasibility of using fusion of MRI and ultrasound (US) in prenatal imaging.
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“采用双末端大规模平行测序对孕妇尿液中的胎儿DNA的高分辨率分析”点评
1论文题目及原文摘要1.1 论文题目High Resolution Size Analysis of Fetal DNA in the Urine of Pregnant Women by Paired-End Massively Parallel Sequencing1.2 摘要Background Fetal DNA in maternal urine,if present,would be a valuable source of fetal genetic material for noninvasive prenatal diagnosis.However,the existence of fetal DNA in maternal urine has remained controversial.The issue is due to the lack of appropriate technology to robustly detect the potentially highly degraded fetal DNA in maternal urine.
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“BACs-on-Beads:5所产前诊断实验室的前瞻性研究”点评
1 原文摘要Objective We previously reported on the validation of Prenatal BACs-on-BeadsTM on retrospectively selected and prospective prenatal samples.This bead-based multiplex assay detects chromosome 13,18,21 and X/Y aneuploidies and the nine most frequent microdeletion syndromes.We demonstrated that Prenatal BACs-on-BeadsTM is a newgeneration,prenatal screening tool.Here,we describe the experience of five European prenatal diagnosis laboratories
关键词: 产前诊断 实验室 前瞻性研究 Prenatal Diagnosis -
无创性产前诊断:从梦想到现实
无创性产前诊断(non-invasive prenatal diagnosis,NIPD)是一个长期追求的目标.几十年来,研究人员一直在努力寻找有效方法,去分离、纯化,并识别存在于母体循环中的少量胎儿细胞,胎儿细胞浓度约为每毫升母血中1~6个[1].
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ISPD产前诊断与治疗第14次国际会议
2008 年6月1日~4日,国际产前诊断学会(The International Society for Prenatal Diagnosis,ISPD)在加拿大范库弗峰隆重召开了产前诊断与治疗第14次国际会议,来自全球各地的产前诊断专家和学者出席了本次会议.ISPD现任主席DianaBianchi和院长GavinStuart为会议致辞.
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非侵入性产前诊断研究及临床应用新进展
由于环境情况不良、生育年龄延迟,出生缺陷的发病率在升高.非侵人性产前诊断是研究热点.通过分离母体血中胎儿细胞、经宫颈收集胎儿细胞,由母体血清中提取胎儿游离DNA及mRNA可对染色体异常疾病、基因异常疾病及RhD血型进行的产前诊断称之为非侵入性产前诊断(non- invasive prenatal diagnosis,因该检查手段并非完全无创,故认为非侵入性产前诊断更为合适)[1].多认为非侵人性产前诊断可以早期对胎儿异常做出较为安全有效的诊断,有利于降低出生缺陷.
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β地中海贫血的无创性产前诊断研究进展
β地中海贫血(β地贫)是常见的常染色体隐性遗传性疾病之一,呈地域性分布,其人群携带率为2%~25%,在我国长江以南地区发病率很高。重型β地贫患儿,在出生后4~6个月出现贫血症状,需接受输血治疗,多在童年期夭折。目前,产前诊断β地贫基因是预防重型β地贫患儿出生的有效方法。产前诊断包括侵入性方法(invasive prenatal diagnosis)和无创性(non-invasive prenatal diagnosis)方法。前者主要通过穿刺技术获取充足的胎儿物质进行胎儿基因检测,但其存在流产、胎膜早破、感染等并发症风险[1-2]。无创性产前诊断指从母体外周血中分离、收集游离胎儿有核红细胞(fetal nucleated red blood cells,FNRBC)或游离胎儿核酸(cell-free fetal nuleic acid,cffNA)进行产前诊断,避免了因穿刺手术所导致的流产等并发症,因此,无创性产前诊断是产前诊断领域的重要研究方向。
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产前超声诊断的现状与发展思考
超声影像诊断应用于产科观察胎儿并诊断胎儿疾病已有三十余年的历史,近年来发展更为迅速并成为产科不可缺少的影像诊断工具.超声诊断不仅可以用来显示正常胎儿的形态结构,实时地观察到胎儿在宫内的运动、行为及胎儿的血流动力学变化,而且能对胎儿的主要结构畸形进行筛查.
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Prenatal express-diagnosis by the method of QF-PCR and automatic microelectroforesis with microarrays