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测定羊水Mb进行假性肥大型肌营养不良的产前诊断

DETERMINATION OF Mb CONCENTRATION IN AMNIOTIC FLUID FOR PRENATAL DIAGNOSIS OF PSEUDOHYPERTROPHIC MUSCULAR DYSTROPHY

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【作者】 郭亦寿; 龚瑶琴; 陈丙玺; 姜源; 刘鸿珍; 王淑华; 方秀荣;

【Author】 Guo Yishou et al (Dept.of Biological, Shandong Medical College)

【机构】 山东医学院生物学教研室; 山东医学院生物学教研室; 济南市妇幼保健院;

【摘要】 用放射免疫法测定了81名正常妊娠孕妇羊水中Mb浓度,正常值32ng/ml。对两名已生过一DMD患儿的孕妇作产前诊断。一名在24周时羊水检查表明胎儿男性,Mb浓度29.19ng/ml,在正常范围,产后婴儿脐带血清Mb浓度36.37ng/ml,CPK71.54IU,在正常范围,与产前诊断一致。另一名Mb61.13ng/ml,妊娠18周羊水检查表明胎儿男性,羊水Mb7.15ng/ml,属正常范围,建议继续妊娠。

【Abstract】 The radioimmunoassay (RIA)have been used to determine the myoglobin (Mb)concentration in amniotic fluid of 81 women, who had normal gestation.The normal level of Mb in amniotic fluid is 31.93 ng/ml. A prenatal diagnosis for two women, who have gave to birth a DMD boy was determined.One woman is 39 years old, her serum CPK is 13.83 IU , Mb is 26.85ng/ml. The amniocentesis was done at 24 weeks gestation, fetus is a male.The Mb concentration in amniotic fluid is 29.19ng/ml. When the boy was born, the Mb concentration in umbilicalblood serum is 36,37ng/ml, CPK level is 71.54 IU. These results are consistent with prenatal diagnosis. The other woman is 30 years old, her serum CPK level is 51.01 IU, Mb is 61.13 ng/ml.The amniocentesis was done at 18 weeks gestation. The fetus is a male, the concentration of Mb in amniotic fluid is 7.15 ng/ml, continune pregnancy. These cases illustrate the possibillity that myoglobIn determination using radioimmunoassay in amniotic fluid may be used for prenatal diagnosis of DMD.

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