Objective To investigate the effect of screening for Down syndrome ( DS) by detecting serum AFP and F-β hCG in pregnant women ( 14 to 20 weeks).

In DS critical region, the increase of genes causing overexpression of its product is considered to be the reason causing clinical manifestations of DS.

在唐氏综合征关键区上的基因数量的增加从而引起其产物的过度表达被认为是引起DS临床表现的原因。

Excess of the above genes may explain some of the changes, while the other unrecognized genes in Down syndrome critical region ( DSOR) may be involved in the disease process of DS.

上述基因的过量可能解释了其中的一些变化，但唐氏综合征关键区（DSOR）上的其他未被认识的基因也可能涉及了DS的疾病过程。

Objective: To pick out Down's syndrome and abnormal fetus of inborn neural tube defect, and reduce the birth of con-genital defect fetus through biochemical indicator detection of pregnancy serum markers.

目的通过母血清标记物生化指标检测，达到检出唐氏综合征（DS）及先天性神经管缺陷（NTD）异常胎儿，减少先天性缺陷胎儿的出生。

Detection of Down syndrome by the double chromatography fluorescence quantitative polymerase chain reaction

双色荧光定量PCR快速诊断唐氏综合征

Survival in infants with Down syndrome, Metropolitan Atlanta, 1979-1998

通过Metropolitan Atlanta评估的1979&1998年唐氏综合征患儿的存活情况

Methods: MEIA was used to detect the maternal serum markers of 3,000 women with second trimester gestation-a-fetoprotein ( AFP), free B-chorionic gonadotropin ( B-hCG), in order to prenatal screen for Down syndrome.

方法：采用磁性分离酶免疫测定技术检测3000例孕中期母血清标记物&甲胎蛋白（AFP）、游离β-绒毛促性腺激素（β-hCG），筛查唐氏综合征胎儿。

Colonic necrosis because of strangulated recurrent Morgagni's hernia in a child with Down's syndrome

唐氏综合征患儿由于反复的绞窄性Morgagni疝所导致的结肠坏死

Objective: To improve the screening rate of Down ′ s Syndrome ( DS) by combination of ultrasonic B examination in early pregnancy and serologic analysis in middle pregnancy.

目的联合孕早期B超及孕中期母血清检测，提高对唐氏综合征（Down′s Syndrome，DS）患儿的筛查率。

Objective: To investigate the expression level of genes located in chromosome 21 in the brain tissues of Down syndrome ( DS).

目的分析唐氏综合征（Down syndrome，DS）胎儿脑组织21号染色体（Chr21）基因的表达，探讨DS脑病变的分子机制。

Conclusion: FISH is a valuable technique for diagnosing Down's syndrome with the merits of fast, high sensitivity, strong signal, low background, vividness and safety. Therefore, FISH technique can find wide application in the diagnosis of clinical genetic disease.

结论：荧光原位杂交技术检测唐氏综合征具有快速、敏感度高、信号强、背景低、直观安全等优点，故FISH技术在临床遗传病检测领域中具有重要的应用价值和发展前景。

Summary ROC Curve And its Application to Evaluation of Prenatal Screening of Down's Syndrome

SROC曲线方法及其在唐氏综合征筛查试验评价中的应用

Conclusion Real-time FQ-PCR is a reliable method that may provide a new way for non-invasive prenatal diagnosis and preimplantation genetic diagnosis for Down's syndrome.

结论实时荧光定量PCR是一种可信的诊断方法，为唐氏综合征的无创性产前诊断及植入前遗传学诊断等提供了新的思路。

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

定量荧光PCR在唐氏综合征快速产前诊断中的应用研究

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。

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。

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。

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。

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

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。

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。