prenatal diagnosis

Prenatal Diagnosis of α-Thalassemia by PCR and Southern Blot

应用PCR和斑点杂交产前诊断α&地中海贫血

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Prenatal diagnosis was made for 4 women at 8~ 11 weeks pregnant who had given birth to phenylketonuria ( PKU) babies.

【目的】应用基因短片段重复序列（STR）对4例曾生育过经典型苯丙酮尿症（PKU）患儿的孕妇，在妊娠8～11周进行产前诊断。

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Objective To explore the method for prenatal diagnosis of congenital adrenal hyperplasia ( CAH) with 21-hydroxylase deficiency ( 21-OHD).

目的探讨先天性肾上腺皮质增生症21羟化酶缺陷的产前诊断方法。

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The Methodology on Prenatal Screening and Gene Diagnosis for Down s Syndrome; Study on the prenatal diagnosis of pregnant women with Down's syndrome fetus

唐氏综合征产前筛查及基因诊断的方法学研究唐氏综合征产前羊水诊断补救措施的探讨

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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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Application of ( TCTA) n polymorphism in PAH gene in PKU prenatal diagnosis in Yunnan

云南苯丙氨酸羟化酶基因内（TCTA）n多态性及其在苯丙酮尿症诊断中的应用

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Objective To explore the diagnosis, prenatal diagnosis and early intervention of trisomy 21 syndrome ( Down syndrome, DS) at cellular, cell-molecular and molecular levels.

目的在细胞、细胞分子和分子水平对21三体综合征（Down syndrome，DS）进行诊断和干预。

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The percentage of ones who received prenatal diagnosis improve 37% after the thalassanemia intervention, and 1 case among every 2.7 cases receiving prenatal diagnosis was achieved because of the intervention. 4 babies with severe thalassanemia were avoided.

干预后促进的产前诊断比干预前提高了37%，每2.7例产前诊断就有1例是由于预措施促成，并避免了4例重型地贫儿的出生。

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Objective To investigate the diagnosis, prenatal treatment and prognosis of pregnancy with idiopathic thrombocytopenic purpura ( ITP).

目的探讨妊娠合并特发性血小板减少性紫癜（idiopathic thrombocytopenic purpura，ITP）围产期治疗效果及母儿结局。

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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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