1、

They were being born with hydrocephaly, microcephaly, cerebral palsy, Down's syndrome and other complications.

他们出生患有脑积水, 小头畸形, 脑瘫, 唐氏综合症以及其他并发症.

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Down's syndrome is an eponym for the English physician john down.

唐氏综合症是用英国医生约翰·唐(JohnDown)的名字命名的.

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3、

Down's syndrome is a condition caused by a genetic malfunction.

唐氏症是一种由于基因变化引起的症状.

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The overall rate of incidence of Down's syndrome is one in every 800 births.

新生儿中唐氏综合症的总体发病率是八百分之一.

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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。

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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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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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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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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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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

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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。

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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

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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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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。

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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。

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⑵ Maternal PAPP-A, maternal PAPP-A combined with maternal age and paternal age, and maternal age would respectively detect 60%, 80% and 50% of Down's syndrome fetuses with a false positive rate of 5%.

当假阳性率为5%时,单项母体血清PAPP-A、单项孕妇年龄、母体血清PAPP-A联合孕妇年龄及丈夫年龄筛查唐氏综合征胎儿的灵敏度分别为60%、50%、80%。

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Down syndrome is a genetic disorder that delays a person's physical and intellectual development.

唐氏综合症是一种阻碍身体和智力发育的先天性疾病.

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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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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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