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匈牙利德布勒森囊性纤维化的遗传咨询与产前诊断——通过羊水微绒毛酶测定进行产前诊断

Genetic counselling and prenatal diagnosis of cystic fibrosis in Debrecen (Hungary)--prenatal diagnosis by microvillar enzyme assay from amniotic fluid.

作者信息

Szabó M, Teichmann F, Huszka M, Münnich A, Veress L, Papp Z

机构信息

Department of Obstetrics and Gynaecology, University Medical School of Debrecen, Hungary.

出版信息

Acta Univ Carol Med (Praha). 1990;36(1-4):132-4.

PMID:2130675
Abstract

Amniotic fluid intestinal alkaline phosphatase, gammaglutamyltransferase and trehalase activity were quantitated to assess their reliability for the prenatal diagnosis of cystic fibrosis. To obtain optimal diagnostic discrimination, the three enzyme values obtained for each sample were combined into a single linear discriminant function that proved to be a more accurate indicator of the outcome of the pregnancy. From the cases studied here, it appears that this method can be expected to give a correct prediction in 92.0% of all high risk pregnancies.

摘要

对羊水的肠碱性磷酸酶、γ-谷氨酰转移酶和海藻糖酶活性进行定量,以评估它们在产前诊断囊性纤维化中的可靠性。为了获得最佳的诊断区分度,将每个样本获得的三个酶值组合成一个单一的线性判别函数,事实证明该函数是妊娠结局更准确的指标。从这里研究的病例来看,似乎这种方法有望在所有高危妊娠中92.0%的情况下做出正确预测。

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