测定羊水Mb进行假性肥大型肌营养不良的产前诊断

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。

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

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.