Technical problems on prenatal diagnosis of the hemophilia A.

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Until recently, prenatal diagnosis of hemophiliacs was based on determining the fetal sex by amniocentesis under ultrasound guidance. However, chorion biopsy in the early pregnancy and applications of fetoscopy in the mid of pregnancy have led to an improvement of prenatal diagnosis of the hemophilia A which allows determination of fetal sex and measurements of FVIII/vWF complex, but several diagnostic errors still remain.Results: 1) The titers of FVIII: C (one step method) and vWF: Ag (Laurell's method) as well as FVIII: Ag (ELISA method) in the cord blood were generally lower than those of maternal blood during pregnancy. 2) A 37-year-old woman who had two sons with hemophilia A was pregnant again after divorce from the former husband. The pregnancy continued because the fetus had been suspected to be female by sex determinatin. At 27 weeks, the fetus was proved to be male by prenatal diagnosis using Y-specific DNA probe and FVIII in the fetal blood obtained by fetoscopy was extremely low, thereby the fetus was affected by hemophilia A. 3) A 23-year-old woman was diagnosed as a hemophilia A carrier at 10 weeks of pregnancy. The fetus was suspected to be female by sex determination using chorion biopsy, and at 22 weeks, the fetus was resuspected to be female by using amniotic cell. A normal male was born at 34 weeks and FVIII in the cord blood was fortunately within normal limit.
一般社団法人日本血栓止血学会の論文