The Investigation of the Application of Quantitative Fluorescent PCR for Fast Prenatal Diagnosis of Down's Syndrome

Objective To explore the normality of MOM value of AFP and HCG used to screen the down's syndrome in Jiangsu province, and discuss the feasibility and effectiveness of application of SL transformation in Johnson system of distributions which is used to normalize MOM value of indexes above.

目的：考察江苏唐氏综合征产前筛查指标AFP和hCG的MoM值的正态性，探索Johnson分布体系中的SL分布族在上述指标正态性转换中应用的可行性和有效性。

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Down syndrome ( DS) is one of the most common genetic diseases with mental retardation. DS has characteristic cognitive impairment phenotype because of its unique genotype.

唐氏综合征（Down syndrome，DS）是一种引起精神发育迟滞的最常见的常染色体遗传性疾病，由于其特殊的基因型导致了特殊的认知障碍表型。

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In11-13+ 6 weeks, fetal nuchal translucency ( NT) thickness has become an important index of down's syndrome of early pregnancy screening.

孕11-13+6周胎儿颈项透明层（NT）厚度已经成为早孕期筛查唐氏综合征的重要指标。

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Result There are 6 anomaly of chromatosome of fetus and 12 NTD in 4661 screened gravida, And we found the possibility of expulsion abnormal fetus was much higher in the high risk group than the lower risk group of Down's syndrome.

结果在筛查的4661名孕妇总检出6例胎儿染色体异常，12例神经管畸形（NTD），并发现唐氏综合征高风险孕妇娩出异常胎儿的可能性明显高于唐氏综合征低风险孕妇。

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Study on normality of MOM of screening indexes for the down's syndrome

唐氏综合征筛查指标MOM值的正态性研究

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The PCR and hybridization results were compared.

将唐氏综合征患者的荧光定量PCR检测结果和荧光原位杂交检测结果与细胞遗传学分析结果进行比较。

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Conclusion: The prenatal diagnosis for Down syndrome by FISH with uncultured interphase cells can advance the diagnosis time to 50~ 70 days of pregnancy with the advantage of convenience, rapidness, accuracy, high sensitiveness and specification.

结论FISH技术应用于未培养间期细胞产前诊断唐氏综合征，可使诊断时间提早到孕50～70d，并且具有简便、快速、准确、灵敏度高、特异性强的独特优势。

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Conclusion: The quantitative analysis of maternal plasma DNA is of great value in the Down's syndrome screening.

结论孕妇血浆游离DNA的定量分析在唐氏综合征筛查中有重要的价值。

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Genetic diagnosis of Down's syndrome using the STR of 21 chromosome

利用21号染色体上STR位点进行唐氏综合征基因诊断的研究

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A Study on the rapid prenatal diagnosis for Down's syndrome

唐氏综合征快速产前诊断方法的研究

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Conclusion The AFP and free β-HCG can be useful markers to detect Down's syndrome and fetal abnormality.

结论AFP、free-β-HCG可用于筛查唐氏综合征及胎儿异常。

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Effect of uE_3 on Prenatal Screening for Down's Syndrome

uE3在唐氏综合征孕中期多指标联合筛查风险预测中的效果评估

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Objective: Rapid, simple and accurate prenatal diagnoses were made to prevent the births of Down's syndrome ( DS) through prenatal screening.

目的在建立可靠的产前筛查方法的同时，采用快速、简便、准确的产前诊断方法，防止唐氏综合征（DS）患儿的出生。

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Application of real-time fluorescence quantitative PCR accompanied with comparison of Delta CT for diagnosis of Down's syndrome from a single cell

单细胞实时荧光定量PCR结合比较阈值法在诊断唐氏综合征中的应用

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Cell-cycle negative regulatory gene ANA is over-expressed in the brain tissues of patients with Down syndrome

细胞周期抑制性基因ANA在唐氏综合征患者脑组织过量表达

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One cause may be an RH incompatibility causing kernicterus in the newborn.

一个原因可能是rh因子不相配引起新生儿的脑核性黄疸。

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Management of hyperbilirubinemia and prevention of kernicterus in 20 patients with Crigler-Najjar disease

20例Crigler-Najjar病患儿高胆红素血症的治疗及核黄疸的预防

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Ultrastructure of neonatal blood-brain barrier and its clinical significance for kernicterus

新生儿尾状核中血脑屏障超微结构与临床意义

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Relating to or affected with jaundice. One cause may be an Rh incompatibility causing kernicterus in the newborn.

与黄疸有关的或患有黄疸的一个原因可能是Rh因子不相配引起新生儿的脑核性黄疸。

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MRI Features in Children with Cerebral Palsy Induced by Chronic Kernicterus

慢性核黄疸所致脑性瘫痪的磁共振成像特征及临床意义

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